Meet the Speakers
Meet our confirmed conference speakers of this year's conference and find out more about their background and work.
Dr. Ajit Gandhi
MD and Diploma in endoscopic surgery
Designation: Consultant Gynaecologist
Affiliation(s): Unique HospitaCertified NT examiner FMF London since 2009.
Achievements:
PCPNDT committee member, Solapur, actively involved in preventing female feticide, Performed over 2000 laparoscopic sterilizations at Dufferin Hospital, Solapur Municiple Corporation2006-09 free of cost.
Chaired and Co-chaired various sessions in regional and local workshops and conferences.
He has also attended many national and international conferences
Area(s) of interest: Fetal Medicine, Prenatal Diagnosis, Perinatal Genetics, Fetal interventional procedures. High Risk Pregnancies,
Endoscopic surgery
Title of ISIEM2021 talk: Does consanguinity a high risk for Neonatal IEM disorders?
Designation: Consultant Gynaecologist
Affiliation(s): Unique HospitaCertified NT examiner FMF London since 2009.
Achievements:
PCPNDT committee member, Solapur, actively involved in preventing female feticide, Performed over 2000 laparoscopic sterilizations at Dufferin Hospital, Solapur Municiple Corporation2006-09 free of cost.
Chaired and Co-chaired various sessions in regional and local workshops and conferences.
He has also attended many national and international conferences
Area(s) of interest: Fetal Medicine, Prenatal Diagnosis, Perinatal Genetics, Fetal interventional procedures. High Risk Pregnancies,
Endoscopic surgery
Title of ISIEM2021 talk: Does consanguinity a high risk for Neonatal IEM disorders?
Dr. Alpa Dherai
Consultant Biochemist
Affiliation(s): P.D.Hinduja Hospital & MRC - Mumbai
Principle interest(s):
- Laboratory diagnosis of Inborn Errors of Metabolism.
- Therapeutic drug monitoring & Pharmacogenetics
- Biomarker identification using multiomics approach
Area(s) of research:
diagnosis of Neurotransmitter defects & Congenital disorders of glycosylation
Management of Inflammatory bowel disease – A Pharmacogenetic biomarker approach
Therapeutic drug monitoring of Thiopurine, Infliximab & Adalimumab.
biomarker identification in complex disease with a multiomics approach
- Title of ISIEM2021 talk:
Judge for the poster session
Affiliation(s): P.D.Hinduja Hospital & MRC - Mumbai
Principle interest(s):
- Laboratory diagnosis of Inborn Errors of Metabolism.
- Therapeutic drug monitoring & Pharmacogenetics
- Biomarker identification using multiomics approach
Area(s) of research:
diagnosis of Neurotransmitter defects & Congenital disorders of glycosylation
Management of Inflammatory bowel disease – A Pharmacogenetic biomarker approach
Therapeutic drug monitoring of Thiopurine, Infliximab & Adalimumab.
biomarker identification in complex disease with a multiomics approach
- Title of ISIEM2021 talk:
Judge for the poster session
Dr. Amar Verma
MD DCH Ph.D (Medicine) MICP FIAP etc.
Designation: Professor & Deputy Director
Affiliation(s): Rajendra Institute of Medical Sciences, Ranchi, Jharkhand
Principle interest(s):
Antenatal & Neonatal Screening
Haemoglobinopathies
Malaria
Area(s) of research:
Neonatal & Antenatal Screening in aspirational Districts of Jharkhand
Autistic Spectral Disorders in Jharkhand
Title of ISIEM2021 talk:
Designation: Professor & Deputy Director
Affiliation(s): Rajendra Institute of Medical Sciences, Ranchi, Jharkhand
Principle interest(s):
Antenatal & Neonatal Screening
Haemoglobinopathies
Malaria
Area(s) of research:
Neonatal & Antenatal Screening in aspirational Districts of Jharkhand
Autistic Spectral Disorders in Jharkhand
Title of ISIEM2021 talk:
Dr. Anil Jalan
Chief Scientific Research officer
NIRMAN: Navi Mumbai Institute of Research in Mental and Neurological Handicap, Navi Mumbai, India
VIsiting Professor: SRMC,Chennai
MD (Paed) : Mumbai University
- Trained in Metabolic Medicine at 10 different European Center and Universities
- Publications- More than 60 research publications.
- Books Published: 4
- Lectues: More than 100 invited talks at various CME's and Conferences.
- Chapters 17 Chapters in 6 medical books
- Hobbies: Travel and Music
- MMC Speaker Code- MMC/MAS/03932/2015
NIRMAN: Navi Mumbai Institute of Research in Mental and Neurological Handicap, Navi Mumbai, India
VIsiting Professor: SRMC,Chennai
MD (Paed) : Mumbai University
- Trained in Metabolic Medicine at 10 different European Center and Universities
- Publications- More than 60 research publications.
- Books Published: 4
- Lectues: More than 100 invited talks at various CME's and Conferences.
- Chapters 17 Chapters in 6 medical books
- Hobbies: Travel and Music
- MMC Speaker Code- MMC/MAS/03932/2015
Dr. Ashish Bavdekar
Associate Professor, Pediatric Gastroenterologist
Affiliation(s): KEM Hospital, Pune
Principle interest(s): Metabolic liver Disease – Wilson Disease, Gaucher Disease, Glycogen storage disease
Area(s) of research: Metabolic liver disease / Clinical Nutrition
Title of ISIEM2021 talk: Addressing a diagnostic enigma - Differentiating Gaucher Disease Type 1 from Type 3
Affiliation(s): KEM Hospital, Pune
Principle interest(s): Metabolic liver Disease – Wilson Disease, Gaucher Disease, Glycogen storage disease
Area(s) of research: Metabolic liver disease / Clinical Nutrition
Title of ISIEM2021 talk: Addressing a diagnostic enigma - Differentiating Gaucher Disease Type 1 from Type 3
Dr. Ashish Mehta
Director
ARPAN NEWBORN CARE CENTRE Pvt Ltd.
Ahmedabad
Gujarat
INDIA
Director– NICU
Sterling Hospital Pvt Ltd.
Visiting Neonatologist
V.S.Hospital and medical college
Received Award from Indian Medical Asso.
For “excellence in Medical field”
Recently received Award from Times Group
For “ Health Icon 2018”
Fellow In Neonatology
College Of Pediatrics, Australia
Visiting Fellow
Sick Kids and Mt Sinai Hospital
Canada
Chapters in Book..
Interventions ..mechanical ventilation )The high risk newborn Jaypee)
Manual of newborn nursing By Indian Academy of pediatrics
Protocols in Neonatology By IAP.. Neo Chap
Atlas and synopsis in neonatology By IAP…Neo Chap
Textbook of Neonatology By Jaypee Publication
Manual Of Neonatology By Cloherty and Stark’s
Journal articles
Journal of Neonatology Vol29, Number 1, Jan – March 2015. Review Article on Respiratory Intervention and Developmental outcome.
ARPAN NEWBORN CARE CENTRE Pvt Ltd.
Ahmedabad
Gujarat
INDIA
Director– NICU
Sterling Hospital Pvt Ltd.
Visiting Neonatologist
V.S.Hospital and medical college
Received Award from Indian Medical Asso.
For “excellence in Medical field”
Recently received Award from Times Group
For “ Health Icon 2018”
Fellow In Neonatology
College Of Pediatrics, Australia
Visiting Fellow
Sick Kids and Mt Sinai Hospital
Canada
Chapters in Book..
Interventions ..mechanical ventilation )The high risk newborn Jaypee)
Manual of newborn nursing By Indian Academy of pediatrics
Protocols in Neonatology By IAP.. Neo Chap
Atlas and synopsis in neonatology By IAP…Neo Chap
Textbook of Neonatology By Jaypee Publication
Manual Of Neonatology By Cloherty and Stark’s
Journal articles
Journal of Neonatology Vol29, Number 1, Jan – March 2015. Review Article on Respiratory Intervention and Developmental outcome.
Dr. Ashka Prajapati
Consultant Clinical Geneticist
Genetic Care Clinic, CIMS Hospital, Ahmedabad
Dr Aashka has done MBBS from BJ Medical college and MD Pediatrics from N.H.L Medical college, Ahmedabad.
She then completed a Fellowship in Clinical Genetics from Indira Gandhi Institute Of Child Health , Bangalore.
She has been associated with the field of Clinical Genetics since 2014.
She has served as a Consultant Clinical Geneticist at Centre For Human Genetics, Bangalore..
She is academically highly active with many posters in her name at national and international conferences. and also a member of IAP, AOP GUJARAT and Associated member of IAMG .
She is at present practicing as a Consultant Clinical Geneticist at Genetic Care Clinic, Ahmedabad and attached as a visiting consultant at different hospitals.
She has Special interest in pediatric genetics, prenatal genetics, dysmorphology, inborn error of metabolism, skeletal dysplasia.
Genetic Care Clinic, CIMS Hospital, Ahmedabad
Dr Aashka has done MBBS from BJ Medical college and MD Pediatrics from N.H.L Medical college, Ahmedabad.
She then completed a Fellowship in Clinical Genetics from Indira Gandhi Institute Of Child Health , Bangalore.
She has been associated with the field of Clinical Genetics since 2014.
She has served as a Consultant Clinical Geneticist at Centre For Human Genetics, Bangalore..
She is academically highly active with many posters in her name at national and international conferences. and also a member of IAP, AOP GUJARAT and Associated member of IAMG .
She is at present practicing as a Consultant Clinical Geneticist at Genetic Care Clinic, Ahmedabad and attached as a visiting consultant at different hospitals.
She has Special interest in pediatric genetics, prenatal genetics, dysmorphology, inborn error of metabolism, skeletal dysplasia.
Dr. Ashok Vellodi
Former Consultant Paediatrician, Metabolic Unit, Great
Ormond Street Hospital for Children, London, UK
Principle interest(s):
Lysosomal Storage Disorders
Title of ISIEM2021 talk: Lysosomal Function and Dysfunction
Ormond Street Hospital for Children, London, UK
Principle interest(s):
Lysosomal Storage Disorders
Title of ISIEM2021 talk: Lysosomal Function and Dysfunction
Dr. Ashwin Dalal
Head, Diagnostics Division
Centre for DNA Fingerprinting and Diagnostics
Hyderabad, INDIA
Current positions and affiliations:
Adjunct Visiting Professor, Department of Medical Genetics
Kasturba Medical College, Manipal, India
Areas of interest:
Exome sequencing for recessive disorders
Chromosomal breakpoint characterization
Genetic analysis in Lysosomal storage disorders
Title of ISIEM2021 talk:
Next generation sequencing based testing strategies for IEMs
Centre for DNA Fingerprinting and Diagnostics
Hyderabad, INDIA
Current positions and affiliations:
Adjunct Visiting Professor, Department of Medical Genetics
Kasturba Medical College, Manipal, India
Areas of interest:
Exome sequencing for recessive disorders
Chromosomal breakpoint characterization
Genetic analysis in Lysosomal storage disorders
Title of ISIEM2021 talk:
Next generation sequencing based testing strategies for IEMs
Dr. Chaitanya Datar
Clinical & Metabolic Geneticist, Director, Sujanan Clinics
Affiliation(s): SUJANAN CLINICS, BHARATI HOSPITAL & RESEARCH CENTER, KEM HOSPITAL, Pune
Principle interest(s):
Neurogenetics, Metabolic disorders, Dysmorphology, Fetal Autopsy, Phenotyping of Genetic syndromes
Area(s) of research: Fetal Autopsy, Neurogenetic disorders
Title of ISIEM2021 talk:"Management of (Intermediary) IEMs in the Molecular era"
Affiliation(s): SUJANAN CLINICS, BHARATI HOSPITAL & RESEARCH CENTER, KEM HOSPITAL, Pune
Principle interest(s):
Neurogenetics, Metabolic disorders, Dysmorphology, Fetal Autopsy, Phenotyping of Genetic syndromes
Area(s) of research: Fetal Autopsy, Neurogenetic disorders
Title of ISIEM2021 talk:"Management of (Intermediary) IEMs in the Molecular era"
Dr. Dipanjana Datta
Dr. Dipanjana Datta, PhD, PDF ( USA)
BGCI ( LEVEL II) certified
Consultant, Medical Genetics
State coordinator for Organization of Rare Disease India ( ORDI )
Dr. Dipanjana Datta is a BGCI Level II certified Genetic Counselor and has 13 years of experience in the field of human genetics. She is the West Bengal Coordinator for Organization of Rare Disease India and also an invited member in the State ( WB) Rare Disease Task Force . Dr. Datta did her M.Sc in Biochemistry from Calcutta University and completed her PhD from Indian Institute of Chemical Biology, Kolkata ( IICB). She was a post doctoral fellow from Virginia Common Wealth University (VCU) and has published in numerous international journals of repute like PNAS, Journal of Neurology, Plos One, International Journal of Gastroenterology, etc. Dr Datta also holds a patent on in discovery and validation of New Biomarkers for metastasis in Head & Neck Cancer along with other members.
BGCI ( LEVEL II) certified
Consultant, Medical Genetics
State coordinator for Organization of Rare Disease India ( ORDI )
Dr. Dipanjana Datta is a BGCI Level II certified Genetic Counselor and has 13 years of experience in the field of human genetics. She is the West Bengal Coordinator for Organization of Rare Disease India and also an invited member in the State ( WB) Rare Disease Task Force . Dr. Datta did her M.Sc in Biochemistry from Calcutta University and completed her PhD from Indian Institute of Chemical Biology, Kolkata ( IICB). She was a post doctoral fellow from Virginia Common Wealth University (VCU) and has published in numerous international journals of repute like PNAS, Journal of Neurology, Plos One, International Journal of Gastroenterology, etc. Dr Datta also holds a patent on in discovery and validation of New Biomarkers for metastasis in Head & Neck Cancer along with other members.
Dr. Harsh Patel
Consultant Paediatric Neurologist
Affiliation(s): Zydus Hospital, Ahmedabad and Sheth L.G. Hospital, Ahmedabad
Principle interest(s):
1. Complex Epilepsy (Metabolic and genetic epilepsy/epileptic encephalopathy, Drug resistant Epilepsy)
2. Neurogenetic disorders
3. Neuromuscular disorders
4. Pediatic stroke
Area(s) of research: FIRES/NORSE (febrile infection related epilepsy syndrome/New onset refractory status epilepticus) registry, Vitamin B12 responsive epileptic encephalopathy in infants
Title of ISIEM2021 talk: Vitamin Responsive Epilepsy/epileptic encephalopathy
Affiliation(s): Zydus Hospital, Ahmedabad and Sheth L.G. Hospital, Ahmedabad
Principle interest(s):
1. Complex Epilepsy (Metabolic and genetic epilepsy/epileptic encephalopathy, Drug resistant Epilepsy)
2. Neurogenetic disorders
3. Neuromuscular disorders
4. Pediatic stroke
Area(s) of research: FIRES/NORSE (febrile infection related epilepsy syndrome/New onset refractory status epilepticus) registry, Vitamin B12 responsive epileptic encephalopathy in infants
Title of ISIEM2021 talk: Vitamin Responsive Epilepsy/epileptic encephalopathy
Dr. Harsh Sheth
Assistant Professor
Affiliation(s): FRIGE’s Institute of Human Genetics, Ahmedabad, India
Principle interest(s): My research focuses on developing novel genomic and computational technologies for rapid, high-throughput and low-cost diagnosis of rare diseases. This includes genomics of hereditary colorectal cancer and Lynch syndrome, lysosomal storage disorders, autism spectrum disorders and male infertility.
Area(s) of research: (1) Epidemiology of microsatellite instability and Lynch syndrome in colorectal cancer patients in India
(2) Genetic architecture of autism spectrum disorder in India
(3) Development and deployment of smMIP based NGS assay for diagnosis of 23 common LSDs in India
(4) Assessing role of de novo variants in male infertility in India
Title of ISIEM2021 talk: Development of smMIP based NGS assay for identification of SNV and CNV for LSDs
Affiliation(s): FRIGE’s Institute of Human Genetics, Ahmedabad, India
Principle interest(s): My research focuses on developing novel genomic and computational technologies for rapid, high-throughput and low-cost diagnosis of rare diseases. This includes genomics of hereditary colorectal cancer and Lynch syndrome, lysosomal storage disorders, autism spectrum disorders and male infertility.
Area(s) of research: (1) Epidemiology of microsatellite instability and Lynch syndrome in colorectal cancer patients in India
(2) Genetic architecture of autism spectrum disorder in India
(3) Development and deployment of smMIP based NGS assay for diagnosis of 23 common LSDs in India
(4) Assessing role of de novo variants in male infertility in India
Title of ISIEM2021 talk: Development of smMIP based NGS assay for identification of SNV and CNV for LSDs
Dr. Harshruti Shah
Senior child neurologist practicing since 22 years at Rajvee hospital ,
Ahmedabad
•
Graduation in child neurology Telaviv uni. Israel
•
Post doctorate in child neurology British pediatric neurology
association
•
Gold medals in each years of M.B.B. S
•
Ex asst, prof. B.J. medical college Ahmedabad
•
Established Epilepsy clinic at Civil hospital on wheel since 23 years
•
Founder secretary Child neurology group Gujarat
•
Best Young investigator’s award of Asia child neurology
congress,Japan
•
Gold prize world child neurology congress Taiwan
•
Times “power woman award 2021”
•
Area of interest epilepsy, autism, neurometabolic disorders
Ahmedabad
•
Graduation in child neurology Telaviv uni. Israel
•
Post doctorate in child neurology British pediatric neurology
association
•
Gold medals in each years of M.B.B. S
•
Ex asst, prof. B.J. medical college Ahmedabad
•
Established Epilepsy clinic at Civil hospital on wheel since 23 years
•
Founder secretary Child neurology group Gujarat
•
Best Young investigator’s award of Asia child neurology
congress,Japan
•
Gold prize world child neurology congress Taiwan
•
Times “power woman award 2021”
•
Area of interest epilepsy, autism, neurometabolic disorders
Dr. Inusha Panigrahi
Professor, Genetic Metabolic Unit, Department of Pediatrics
Affiliation:
PGIMER, Chandigarh-12, India
Principle interest:
Thalassemia, Dysmorphology, Metabolic disorders, Intellectual Disability, Preinatal medicine.
Books edited: 1- Handbook on medical genetics and genetic counselling, First edition, Noble Vision Publishers, New Delhi, 2013; 2nd Edition 2021.
2- Handbook on Down syndrome, 2017.
3- Birth Defects and Disability: A beginner's guide, 1st Edition, 2018
Area of research: Current- Congenital Deafness, Osteogenesis Imperfecta, Gaucher Disease, Craniosynostosis
Title of your ISIEM2021 talk:
Treatable IEMs including Organic Acidemias
Affiliation:
PGIMER, Chandigarh-12, India
Principle interest:
Thalassemia, Dysmorphology, Metabolic disorders, Intellectual Disability, Preinatal medicine.
Books edited: 1- Handbook on medical genetics and genetic counselling, First edition, Noble Vision Publishers, New Delhi, 2013; 2nd Edition 2021.
2- Handbook on Down syndrome, 2017.
3- Birth Defects and Disability: A beginner's guide, 1st Edition, 2018
Area of research: Current- Congenital Deafness, Osteogenesis Imperfecta, Gaucher Disease, Craniosynostosis
Title of your ISIEM2021 talk:
Treatable IEMs including Organic Acidemias
Dr. Jayesh Sheth
Founder and Chairman of Foundation for Research In Genetics and Endocrinology(FRIGE) and Institute of Human Genetics-Ahmedabad, Gujarat
Director: Shah Pathology Lab and Endocrine unit, Ahmedabad
Pioneer of Endocrine services since 1985 and Genetic services since 1995 in Gujarat
Vice President of the Indian Society of Human Genetics
Memebr of National Rare Disease Registry, ICMR-GOI
Past Roles:
Ex Associate Professor of Endocrinology and Head Endocrine Lab; Sheth VS General Hospital and NHL Medical college, Ahmedabad
Executive member :Endocrine Society of India
Member: National task force on lysosomal storage disorders, ICMR-GOI
Qualifications/ Degree:
Ph.D (Biochemistry), Diploma certificate in Reproductive Medicine and Biology (Univ of Geneva)
Fellow-UICC and WHO
Fellow of Indian College of Mother and Child Health
Awards and honours
Who is Who in Medicine and Healthcare, 2006 by The Marquis Who is Who
Future of India:Business excellence and Achievement Award by 1000 Petals, CNBC and TV18,2016
Research portfolio and publications:
132 in National and International journals, Written book on Genetics and several chapters in endocrinology and Genetics
Guided several students for PhD, Biotechnology and MD
Reviewer: Several National and International Journals like Ind Pediatrics, Neurology India, Am J Med Genetics, Frontiers in Genetics etc
National Patent on low-cost I-cell screening
Research interest; Lysosomal storage Disorders, Rare diseases,Thyroid, Diabetes , Monogenic disorders, Genomics of developmental disorders and Herbal drug for degenerative and chronic diseases diseases
Email: Jayesh.Sheth@Frige.co.in/www.geneticcentre.org
Director: Shah Pathology Lab and Endocrine unit, Ahmedabad
Pioneer of Endocrine services since 1985 and Genetic services since 1995 in Gujarat
Vice President of the Indian Society of Human Genetics
Memebr of National Rare Disease Registry, ICMR-GOI
Past Roles:
Ex Associate Professor of Endocrinology and Head Endocrine Lab; Sheth VS General Hospital and NHL Medical college, Ahmedabad
Executive member :Endocrine Society of India
Member: National task force on lysosomal storage disorders, ICMR-GOI
Qualifications/ Degree:
Ph.D (Biochemistry), Diploma certificate in Reproductive Medicine and Biology (Univ of Geneva)
Fellow-UICC and WHO
Fellow of Indian College of Mother and Child Health
Awards and honours
Who is Who in Medicine and Healthcare, 2006 by The Marquis Who is Who
Future of India:Business excellence and Achievement Award by 1000 Petals, CNBC and TV18,2016
Research portfolio and publications:
132 in National and International journals, Written book on Genetics and several chapters in endocrinology and Genetics
Guided several students for PhD, Biotechnology and MD
Reviewer: Several National and International Journals like Ind Pediatrics, Neurology India, Am J Med Genetics, Frontiers in Genetics etc
National Patent on low-cost I-cell screening
Research interest; Lysosomal storage Disorders, Rare diseases,Thyroid, Diabetes , Monogenic disorders, Genomics of developmental disorders and Herbal drug for degenerative and chronic diseases diseases
Email: Jayesh.Sheth@Frige.co.in/www.geneticcentre.org
Dr. Jyotsna Verma
Senior Consultant, In-Charge Biochemical Genetics
Affiliation(s): Institute of medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi
Principle interest(s):Lab Diagnosis of Lysosomal storage disorders and other metabolic disorders, Prenatal Biochemical screening, Newborn screening
Research/ Professional Experience/ Awards: >25 yrs experience, Training in Clinical lab diagnosis ICH, London, Duke University, USA, Taipei University, Taiwan, AIIMS, Delhi and IGIB (CSIR) Lab, Delhi. Received Genzyme fellowship, DST young scientist award, doctorate and post-doctrate CSIR fellowships , Published >50 papers in Intenational journals.
Title of ISIEM2021 talk: Chairing workshop lecture by Dr. J. Sheth
Affiliation(s): Institute of medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi
Principle interest(s):Lab Diagnosis of Lysosomal storage disorders and other metabolic disorders, Prenatal Biochemical screening, Newborn screening
Research/ Professional Experience/ Awards: >25 yrs experience, Training in Clinical lab diagnosis ICH, London, Duke University, USA, Taipei University, Taiwan, AIIMS, Delhi and IGIB (CSIR) Lab, Delhi. Received Genzyme fellowship, DST young scientist award, doctorate and post-doctrate CSIR fellowships , Published >50 papers in Intenational journals.
Title of ISIEM2021 talk: Chairing workshop lecture by Dr. J. Sheth
Dr. Kausik Mandal
MBBS: NRS, Kolkata
MD (Pediatrics) : MAMC, New Delhi
DM (Medical Genetics): SGPGIMS, Lucknow
Work experience:
LHMC New Delhi
CMC Vellore
SGPGIMS Lucknow: since 2013
Present affiliation:
Additional Professor,
Department of Medical Genetics, SGPGIMS, Lucknow
Email: mandal.kausik@gmail.com
Clinical expertise:
Dysmorphology diagnosis / Pediatric genetic disorders
Genetic counseling
Antenatal diagnosis by USG, amniocentesis, chorionic villous sampling etc.
Laboratory diagnostic skills:
MLPA (Multiplex Ligation dependant amplification)
Sanger sequencing
Ongoing research areas:
Inherited Kidney diseases
Lysosomal storage disorders
Genetic hematological disorders
Genetic neuromuscular disorders
Neuro-cardio-facio-cutaneous syndromes – Noonan syndrome
Disorders of Growth
Publications :
Around 70 publications in indexed journals
5 Book chapters
2 inclusions in London Dysmorphology Database
Journal associations:
Reviewer - 10 journals (National and international)
MD (Pediatrics) : MAMC, New Delhi
DM (Medical Genetics): SGPGIMS, Lucknow
Work experience:
LHMC New Delhi
CMC Vellore
SGPGIMS Lucknow: since 2013
Present affiliation:
Additional Professor,
Department of Medical Genetics, SGPGIMS, Lucknow
Email: mandal.kausik@gmail.com
Clinical expertise:
Dysmorphology diagnosis / Pediatric genetic disorders
Genetic counseling
Antenatal diagnosis by USG, amniocentesis, chorionic villous sampling etc.
Laboratory diagnostic skills:
MLPA (Multiplex Ligation dependant amplification)
Sanger sequencing
Ongoing research areas:
Inherited Kidney diseases
Lysosomal storage disorders
Genetic hematological disorders
Genetic neuromuscular disorders
Neuro-cardio-facio-cutaneous syndromes – Noonan syndrome
Disorders of Growth
Publications :
Around 70 publications in indexed journals
5 Book chapters
2 inclusions in London Dysmorphology Database
Journal associations:
Reviewer - 10 journals (National and international)
Dr. Khanjan Shah
M.D. PAEDIATRICS, IDPCCM
Affiliation(s):
Principle interest(s): PEDIATRIC CRITICAL CARE,METABOLIC EMERGENCIES
Area(s) of research:
Title of your ISIEM2021 talk:CLINICAL DIAGNOSIS AND MANAGEMENT OF CYSTIC FIBROSIS.
Affiliation(s):
Principle interest(s): PEDIATRIC CRITICAL CARE,METABOLIC EMERGENCIES
Area(s) of research:
Title of your ISIEM2021 talk:CLINICAL DIAGNOSIS AND MANAGEMENT OF CYSTIC FIBROSIS.
Dr. Koumudi Godbole
MD (Pediatrics), FCCMG (Fellow of Canadian College of Medical Geneticists)
Consultant Clinical Geneticist, Deenanath Mangeshkar Hospital & Research Center, Pune
Publications: About 30 in international journals, 3 books, 5 book chapters
Areas of Interest: Mental retardation and dysmorphism, Reproductive Health, Developmental origins of Health and Disease in adults
V. Balgopal Raju Award in Child Health, IAP, 1996
Rotary Foundation Multi-year Ambassadorial Scholarship for Training in Canada 2002-04
Coordinator, Pune Birth Defects Registry since 2006
Marathi Vidnayn Parishad, Dr Tulpule award for Janansathi Genetics, an introductory genetics book in Marathi 2010
Concept and organization of Garbha-Swasthya Helpline, 2011
Visiting International Fellowship, UK Clinical Genetics Society, 2014
Consultant Clinical Geneticist, Deenanath Mangeshkar Hospital & Research Center, Pune
Publications: About 30 in international journals, 3 books, 5 book chapters
Areas of Interest: Mental retardation and dysmorphism, Reproductive Health, Developmental origins of Health and Disease in adults
V. Balgopal Raju Award in Child Health, IAP, 1996
Rotary Foundation Multi-year Ambassadorial Scholarship for Training in Canada 2002-04
Coordinator, Pune Birth Defects Registry since 2006
Marathi Vidnayn Parishad, Dr Tulpule award for Janansathi Genetics, an introductory genetics book in Marathi 2010
Concept and organization of Garbha-Swasthya Helpline, 2011
Visiting International Fellowship, UK Clinical Genetics Society, 2014
Dr. Madhulika Kabra
Professor
Affiliation(s): Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi
Principle interest(s): A brief write up about your current research
Interests :Intellectual disability, Lysosomal storage disorders, Newborn screening, Dysmorphology
Present research : Outreach programs for genetic services, registry of rare disorders & birth defects, Intellectual disability
Area(s) of research:
Lysosomal Storage disorders, Newborn screening, Intellectual disability, Molecular spectrum of Monogenic disorders in India, Down syndrome, Non syndromic hereditary hearing loss.
Title of ISIEM2021 talk:
Rare Disease Policy and Implications in IEM
When to suspect GSD and its management
Affiliation(s): Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi
Principle interest(s): A brief write up about your current research
Interests :Intellectual disability, Lysosomal storage disorders, Newborn screening, Dysmorphology
Present research : Outreach programs for genetic services, registry of rare disorders & birth defects, Intellectual disability
Area(s) of research:
Lysosomal Storage disorders, Newborn screening, Intellectual disability, Molecular spectrum of Monogenic disorders in India, Down syndrome, Non syndromic hereditary hearing loss.
Title of ISIEM2021 talk:
Rare Disease Policy and Implications in IEM
When to suspect GSD and its management
Dr. Mamta Muranjan
Professor (Additional) & In-charge of Genetic Clinic
Consultant in Clinical genetics
Affiliations:
KEM Hospital, Mumbai
PD Hinduja National Hospital & NH SRCC Hospital, Mumbai
Principle interests/areas of research:
Inborn errors of metabolism including lysosomal storage disorders, particularly Gaucher disease; newborn screening; prenatal diagnosis; skeletal dysplasias; Down syndrome
Title of ISIEM2021 talk:
Challenges in the treatment of patient with Gaucher disease
Consultant in Clinical genetics
Affiliations:
KEM Hospital, Mumbai
PD Hinduja National Hospital & NH SRCC Hospital, Mumbai
Principle interests/areas of research:
Inborn errors of metabolism including lysosomal storage disorders, particularly Gaucher disease; newborn screening; prenatal diagnosis; skeletal dysplasias; Down syndrome
Title of ISIEM2021 talk:
Challenges in the treatment of patient with Gaucher disease
Dr. Manish Mehta
Neonatal and Pediatric intensivist, Synergy Hospital, Ahmedabad
Fellowship in neonatology Wadia Hospital, Mumbai
HSG AOP Gujarat
President AOP Ahmedabad 2017-18
Treasurer AOP Gujarat 2016-17
Organizingg Secretary GIAPCON 2017
Jt Organizing Secretary NCPID 2019
Fellowship Postgraduate in Pediatric Nutrtion
Trainer in United airways and Vaccinology, United airways, WAR, Fever modules of CIAP
Fellowship in neonatology Wadia Hospital, Mumbai
HSG AOP Gujarat
President AOP Ahmedabad 2017-18
Treasurer AOP Gujarat 2016-17
Organizingg Secretary GIAPCON 2017
Jt Organizing Secretary NCPID 2019
Fellowship Postgraduate in Pediatric Nutrtion
Trainer in United airways and Vaccinology, United airways, WAR, Fever modules of CIAP
Dr. Meenakshi Bhat
Professor & Mazumdar-Shaw Research Chair
Affiliation(s): Associate Director,Centre for Human Genetics (CHG), Bengaluru
Honorary Consultant, Indira Gandhi Institue of Child Health, Bengaluru
Principle interest(s): A brief write up about your current research.
She has set up and leads the clinical services at CHG, developing one of the largest patient databases of genetic disorders over a 15 year period. She has initiated training programmes in Paediatric genetics and genetic counselling to address the critical need for trained personnel in clinical genetics. She has provided intellectual partnership in producing indigenous, low cost, lifesaving diets for metabolic disorders, now certified and used throughout the country. The first ever Centre of Excellence for Rare Diseases Therapy was set up under her guidance in Indira Gandhi Institute of Child Health, Bengaluru. Her work with rare diseases has resulted in CHG being named as one of the eight centres of excellence in the National Rare Diseases Policy, 2021.
Area(s) of research: Clinical Genetics, Lysosomal storage disorders, genetic counselling
Title of ISIEM2021 talk:
Ultra- rare cardiac variant in Gaucher disease: type IIIC, Indian experience
Affiliation(s): Associate Director,Centre for Human Genetics (CHG), Bengaluru
Honorary Consultant, Indira Gandhi Institue of Child Health, Bengaluru
Principle interest(s): A brief write up about your current research.
She has set up and leads the clinical services at CHG, developing one of the largest patient databases of genetic disorders over a 15 year period. She has initiated training programmes in Paediatric genetics and genetic counselling to address the critical need for trained personnel in clinical genetics. She has provided intellectual partnership in producing indigenous, low cost, lifesaving diets for metabolic disorders, now certified and used throughout the country. The first ever Centre of Excellence for Rare Diseases Therapy was set up under her guidance in Indira Gandhi Institute of Child Health, Bengaluru. Her work with rare diseases has resulted in CHG being named as one of the eight centres of excellence in the National Rare Diseases Policy, 2021.
Area(s) of research: Clinical Genetics, Lysosomal storage disorders, genetic counselling
Title of ISIEM2021 talk:
Ultra- rare cardiac variant in Gaucher disease: type IIIC, Indian experience
Dr. Neerja Gupta
Associate Professor, Division of Genetics, Department of Pediatrics,
All India Institute of Medical Sciences, New Delhi
neerja17@gmail.com
Qualifications:
MD Pediatrics, DM (Medical Genetics)
Publications: 159; More than 20 book chapters
Academic Achievements/ Awards:
Recipient of Clinical Genetics Society fellowship UK, 2012
Coordinator Quality assurance WHO birth defect surveillance program across SEAR
Past treasurer SIAMG
Areas of interest:
Management of Inherited metabolic disorders
Genomics of intellectual disability, Skeletal dysplasia, dysmorphic syndromes
All India Institute of Medical Sciences, New Delhi
neerja17@gmail.com
Qualifications:
MD Pediatrics, DM (Medical Genetics)
Publications: 159; More than 20 book chapters
Academic Achievements/ Awards:
Recipient of Clinical Genetics Society fellowship UK, 2012
Coordinator Quality assurance WHO birth defect surveillance program across SEAR
Past treasurer SIAMG
Areas of interest:
Management of Inherited metabolic disorders
Genomics of intellectual disability, Skeletal dysplasia, dysmorphic syndromes
Dr. Prajnya Ranganathan
Associate Professor and Head, Department of Medical Genetics, Nizam's Institute of Medical Sciences (NIMS), Hyderabad & Adjunct Scientist, Centre for DNA Fingerprinting and Diagnostics (CDFD), Hyderabad
Principle interest(s): Study of monogenic causes of intellectual disability, dysmorphic syndromes, neuromuscular disorders and non-immune fetal hydrops.
Area(s) of research: Lysosomal storage disorders, genetic neuromuscular disorders, non-immune fetal hydrops
Title of ISIEM2021 talk: Follow-up of patients with mucopolysaccharidosis (MPS)
Principle interest(s): Study of monogenic causes of intellectual disability, dysmorphic syndromes, neuromuscular disorders and non-immune fetal hydrops.
Area(s) of research: Lysosomal storage disorders, genetic neuromuscular disorders, non-immune fetal hydrops
Title of ISIEM2021 talk: Follow-up of patients with mucopolysaccharidosis (MPS)
Dr. Prakash Gambhir
Pediatrician and Geneticist Director Birthright Genetic Clinic, Pune, Chief Medical Scientist, LifeCell International
Affiliation(s): Secretary, Genetics Chapter, Indian Academy of Pediatrics
Principle interest(s): A brief write up about your current research.
Involved in Setting up of national level Newborn screening program with corporate participation. Involved in setting up reflex genetic diagnostics in Newborn screening. Involved in setting up a fetal autopsy nationwide network. Involved in setting up audits of pernatal screening programs
Area(s) of research: Fetal Dysmorphology and Fetal autopsy, Prenatal and Newborn Screening,
Title of ISIEM2021 talk: Newborn Screening Strategy in Indian Perspective
Affiliation(s): Secretary, Genetics Chapter, Indian Academy of Pediatrics
Principle interest(s): A brief write up about your current research.
Involved in Setting up of national level Newborn screening program with corporate participation. Involved in setting up reflex genetic diagnostics in Newborn screening. Involved in setting up a fetal autopsy nationwide network. Involved in setting up audits of pernatal screening programs
Area(s) of research: Fetal Dysmorphology and Fetal autopsy, Prenatal and Newborn Screening,
Title of ISIEM2021 talk: Newborn Screening Strategy in Indian Perspective
Dr. Promod Kumar Mistry
Professor
Affiliation(s): Yale University School of Medicine
Principle interest(s):
Dr Pramod Mistry is Professor of Medicine, Pediatrics and Cellular & Molecular Physiology at Yale School of Medicine. He is the Director of Yale’s National Gaucher Disease Treatment Center. His lab is focused on clinical translational research in Gaucher disease that includes patient-centered research, treatment outcomes, mouse models, genomics, biomarker discovery, and understanding the role of glycosphingolipids in immune dysregulation and cancer. Dr Mistry is the Chair of Project Hope Humanitarian program for Gaucher disease, serves on the medical advisory board of the National Gaucher Foundation and he is regional coordinator of the ICGG Registry.
Area(s) of research: Genomics, biomarkers, mouse models, therapies and modifier genes in Gaucher disease. Relevance beyond rare disease, ie Parkinson disease and myeloma.
Title of your ISIEM2021 talk:
Type 3 Gaucher disease: from phenotypes to disease mechanisms and therapeutic targets.
Affiliation(s): Yale University School of Medicine
Principle interest(s):
Dr Pramod Mistry is Professor of Medicine, Pediatrics and Cellular & Molecular Physiology at Yale School of Medicine. He is the Director of Yale’s National Gaucher Disease Treatment Center. His lab is focused on clinical translational research in Gaucher disease that includes patient-centered research, treatment outcomes, mouse models, genomics, biomarker discovery, and understanding the role of glycosphingolipids in immune dysregulation and cancer. Dr Mistry is the Chair of Project Hope Humanitarian program for Gaucher disease, serves on the medical advisory board of the National Gaucher Foundation and he is regional coordinator of the ICGG Registry.
Area(s) of research: Genomics, biomarkers, mouse models, therapies and modifier genes in Gaucher disease. Relevance beyond rare disease, ie Parkinson disease and myeloma.
Title of your ISIEM2021 talk:
Type 3 Gaucher disease: from phenotypes to disease mechanisms and therapeutic targets.
Dr. Radha Rama Devi
Consultant Paediatrician and clinical Geneticist
Affiliation(s): Rainbow Children Hospital
Prasad Hospital & Research centre, Genome Foundation, Hyderabad
Principle interest(s):
New-born Screening. Diagnosis and management of IEMs
Area(s) of research:
Generation of Zebra Fish model for Glutaric aciduria type1
To study the early striatal damage in GA1 in the model and GA1 mutation Registry.
Lyso-B study in Gaucher disease
To develop registries for Treatable LSDs
Title of ISIEM2021 talk:
New-born screening, Past, present and future.
Affiliation(s): Rainbow Children Hospital
Prasad Hospital & Research centre, Genome Foundation, Hyderabad
Principle interest(s):
New-born Screening. Diagnosis and management of IEMs
Area(s) of research:
Generation of Zebra Fish model for Glutaric aciduria type1
To study the early striatal damage in GA1 in the model and GA1 mutation Registry.
Lyso-B study in Gaucher disease
To develop registries for Treatable LSDs
Title of ISIEM2021 talk:
New-born screening, Past, present and future.
Dr. Raju C Shah
Medical director, Ankur Institute of Child Health, Ahmedabad
Former Professor and Head, Dept. of Pediatrics, GCS Medical College, Ahmedabad
Posts in Professional Bodies:
National President, Indian Academy of Pediatrics (2005)
President, Pediatric Association of SAARC (2005-08)
Chairman, Committee on Immunization, IAP (2005-6)
Chairman, Infectious Disease Chapter of IAP (2002–3)
Member, Academic Council, College of Indian Academy of Pediatrics (2021-23)
Awards & Publications :
Dr Shantilal Sheth Oration Award, IAP (2015)
Dr Ashok Kapse Oration Award, Surat IAP (2021)
Editor in chief, IAP textbook of Tropical Diseases
Executive Editor, IAP Textbook of Pediatrics, 3rd Edition,
Editor, Guidebook on Immunisation, IAP (2006)
Contributed in more than 50 modules of IAP
Editor of Books on Immunisation and Infectious diseases
Published more than 100 articles in journals and books
Title of ISIEM2021 talk: Journey from septicaemia to IEM Disorders
Former Professor and Head, Dept. of Pediatrics, GCS Medical College, Ahmedabad
Posts in Professional Bodies:
National President, Indian Academy of Pediatrics (2005)
President, Pediatric Association of SAARC (2005-08)
Chairman, Committee on Immunization, IAP (2005-6)
Chairman, Infectious Disease Chapter of IAP (2002–3)
Member, Academic Council, College of Indian Academy of Pediatrics (2021-23)
Awards & Publications :
Dr Shantilal Sheth Oration Award, IAP (2015)
Dr Ashok Kapse Oration Award, Surat IAP (2021)
Editor in chief, IAP textbook of Tropical Diseases
Executive Editor, IAP Textbook of Pediatrics, 3rd Edition,
Editor, Guidebook on Immunisation, IAP (2006)
Contributed in more than 50 modules of IAP
Editor of Books on Immunisation and Infectious diseases
Published more than 100 articles in journals and books
Title of ISIEM2021 talk: Journey from septicaemia to IEM Disorders
Dr. Ratna Puri
Professor and Chairperson, Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi
M.D. Pediatrics (AFMC); D.M. Medical Genetics (SGPGI, Lucknow)
Dr IC Verma Outstanding Researcher Award 2019
Dharam Vira Award of Excellence 2010 in recognition of meritorious work Member of the Undiagnosed Disease Network International of NIH, USA
Member of Diagnostics Scientific Committee, International Rare Diseases Research Consortium
Young Investigators Award, Tokyo, Japan 2006
Member of the panel of experts of the WHO Collective Global Network for Rare Diseases, an activity of the Rare Diseases International
Ongoing Research Projects
Indian Undiagnosed Diseases Program (I-UDP)
Establishing Registry for rare and potentially treatable Genetic Disorders
Molecular characterization of lethal skeletal dysplasias
Sequential evaluation of patients with muscular dystrophies by deep phenotyping & molecular studies
A study of next generation sequencing in unexplained intellectual disability
Publications – 130
M.D. Pediatrics (AFMC); D.M. Medical Genetics (SGPGI, Lucknow)
Dr IC Verma Outstanding Researcher Award 2019
Dharam Vira Award of Excellence 2010 in recognition of meritorious work Member of the Undiagnosed Disease Network International of NIH, USA
Member of Diagnostics Scientific Committee, International Rare Diseases Research Consortium
Young Investigators Award, Tokyo, Japan 2006
Member of the panel of experts of the WHO Collective Global Network for Rare Diseases, an activity of the Rare Diseases International
Ongoing Research Projects
Indian Undiagnosed Diseases Program (I-UDP)
Establishing Registry for rare and potentially treatable Genetic Disorders
Molecular characterization of lethal skeletal dysplasias
Sequential evaluation of patients with muscular dystrophies by deep phenotyping & molecular studies
A study of next generation sequencing in unexplained intellectual disability
Publications – 130
Dr. Reena Kartha
Assistant Professor and Associate Director of Translational Pharmacology
Affiliation(s): Center for Orphan Drug Research, Department of Experimental and Clinical Pharmacology, University of Minnesota, Minneapolis, USA.
Principle interest(s): Clinical pharmacology and development of drugs used in the treatment of inherited metabolic disorders; Biomarker discovery in the area of rare pediatric neurological disorders.
Area of research: Inherited metabolic disorders; Biomarker discovery;
Neuropharmacology; Drug Repurposing
Title of ISIEM2021 talk: Clinical Pharmacology Considerations in Repurposing Natural Products for Inherited Metabolic Disorders
Affiliation(s): Center for Orphan Drug Research, Department of Experimental and Clinical Pharmacology, University of Minnesota, Minneapolis, USA.
Principle interest(s): Clinical pharmacology and development of drugs used in the treatment of inherited metabolic disorders; Biomarker discovery in the area of rare pediatric neurological disorders.
Area of research: Inherited metabolic disorders; Biomarker discovery;
Neuropharmacology; Drug Repurposing
Title of ISIEM2021 talk: Clinical Pharmacology Considerations in Repurposing Natural Products for Inherited Metabolic Disorders
Dr. Seema Kapoor
Director Professor, Pediatrics,
In charge, Division of Genetics & Metabolism,
Maulana Azad Medical College, New Delhi
Currently coordinating a center for excellence in Biochemical Genetics
Experience in Medical/ Pediatric education:
1.Member of Task Force for Metabolic errors by the ICMR
2.Member of advisory board of IVF and reproductive Biology center,MAMC, New Delhi
3.Member Task force on Lysosomal storage Disorders by the ICMR
4. Member of Science and Education Committee in ISNS
5. Member of Asia Pacific Human Genetic Group
6.Reviewer for Indian Pediatrics, Indian Journal of Pediatrics Journal of Pediatric Genetics & Metabolism, World Journal Of pediatrics
7.Member of the small molecule group registry under the registry
8. Member of the Central PNDT committee
9. Member of the National Newborn Screening Committee
10. Disability Board for LN hospital for evaluation of challenged children,
Helping support for formation of the Down Syndrome support group
Publications:
Authored 150 indexed publications in national and international journals
Awards/ Recognitions:
Awarded 25 Gold medals during MBBS and awarded the Presidents Medal for Best Lady Medico 1982
International travel award to Ph.D Students for JDDW 2018, APDW 2018 & SSIEM 2018)
Title of ISIEM2021 talk: Holistic Newborn screening: Challenges and way forward.
In charge, Division of Genetics & Metabolism,
Maulana Azad Medical College, New Delhi
Currently coordinating a center for excellence in Biochemical Genetics
Experience in Medical/ Pediatric education:
1.Member of Task Force for Metabolic errors by the ICMR
2.Member of advisory board of IVF and reproductive Biology center,MAMC, New Delhi
3.Member Task force on Lysosomal storage Disorders by the ICMR
4. Member of Science and Education Committee in ISNS
5. Member of Asia Pacific Human Genetic Group
6.Reviewer for Indian Pediatrics, Indian Journal of Pediatrics Journal of Pediatric Genetics & Metabolism, World Journal Of pediatrics
7.Member of the small molecule group registry under the registry
8. Member of the Central PNDT committee
9. Member of the National Newborn Screening Committee
10. Disability Board for LN hospital for evaluation of challenged children,
Helping support for formation of the Down Syndrome support group
Publications:
Authored 150 indexed publications in national and international journals
Awards/ Recognitions:
Awarded 25 Gold medals during MBBS and awarded the Presidents Medal for Best Lady Medico 1982
International travel award to Ph.D Students for JDDW 2018, APDW 2018 & SSIEM 2018)
Title of ISIEM2021 talk: Holistic Newborn screening: Challenges and way forward.
Dr. Shalmi Mehta
Training in Pediatric Endocrinology at Hospital for Sick Children, Toronto, Canada
Practising as a consultant Pediatric Endocrinologist since 2009 in Ahmedabad at Endokids Clinic.
Convenor for Growth Chart Training, Gujarat
Authored chapter in Textbook of Pediatric Endocrinology, by IAP.
Speaker at various state level and national conferences
Key interest- Type 1 Diabetes, Precocious Puberty, Calcium and Bone disorders.
Practising as a consultant Pediatric Endocrinologist since 2009 in Ahmedabad at Endokids Clinic.
Convenor for Growth Chart Training, Gujarat
Authored chapter in Textbook of Pediatric Endocrinology, by IAP.
Speaker at various state level and national conferences
Key interest- Type 1 Diabetes, Precocious Puberty, Calcium and Bone disorders.
Dr. Sheela Nampoothiri
Designation: Clinical Professor
Affiliation: Department of Pediatric Genetics
Amrita Institute of Medical Sciences & Research Centre
Cochin, Kerala
Principle interest(s):
Prospective study to evaluate the prevalence of Fabry disease among patients
Young stroke (< 45 years)
Hypertrophic Cardiomyopathy
Chronic kidney disease due to unknown etiology
Area(s) of research:
Fabry disease, Skeletal dysplasias
Title of ISIEM2021 talk: Different Phenotypes from same Genotype- Learnings from Fabry Disease
Affiliation: Department of Pediatric Genetics
Amrita Institute of Medical Sciences & Research Centre
Cochin, Kerala
Principle interest(s):
Prospective study to evaluate the prevalence of Fabry disease among patients
Young stroke (< 45 years)
Hypertrophic Cardiomyopathy
Chronic kidney disease due to unknown etiology
Area(s) of research:
Fabry disease, Skeletal dysplasias
Title of ISIEM2021 talk: Different Phenotypes from same Genotype- Learnings from Fabry Disease
Dr. Shruti Bajaj
Consultant Clinical Geneticist
Affiliation(s): The Purple Gene Clinic, NH SRCC Children’s Hospital, Sir HN Reliance Hospital- Mumbai
Principle interest(s): Prenatal and pediatric genetics, inborn errors of metabolism, dysmorphology
Publication / Awards:
23 Articles: Indexed National and International journals
6 Chapters: Inborn errors of metabolism (Textbook of Pediatrics), Approach to neonatal encephalopathy (Elsevier India Point of care), Neurofibromatosis, Marfan Syndrome, Achondroplasia, Vitamin-D Resistant Rickets
Title of ISIEM2021 talk: Acute neonatal encephalopathy: case based approach
Affiliation(s): The Purple Gene Clinic, NH SRCC Children’s Hospital, Sir HN Reliance Hospital- Mumbai
Principle interest(s): Prenatal and pediatric genetics, inborn errors of metabolism, dysmorphology
Publication / Awards:
23 Articles: Indexed National and International journals
6 Chapters: Inborn errors of metabolism (Textbook of Pediatrics), Approach to neonatal encephalopathy (Elsevier India Point of care), Neurofibromatosis, Marfan Syndrome, Achondroplasia, Vitamin-D Resistant Rickets
Title of ISIEM2021 talk: Acute neonatal encephalopathy: case based approach
Dr. Siddharth Shah
Child Neurologist & Epileptologist
Affiliation(s): Royal Institute of Child Neurosciences, Ahmedabad
Principle interest(s): A brief write up about your current research.
Neurogenetics, Neuromuscular disorders and Stroke
PI for Phase 3 trial of Ataluren in DMD patients
Recent speaker for Genetics in stroke at AOCN seminar July 21 and ICNC International conference 2018
Core member for writing guidelines in the management of stroke
Publications on COL4A1 and presentations in childhood
In submission case report on Juvenile Tay Sachs Disease
Area(s) of research:
As above
Title of ISIEM2021 talk: Neuroimaging clues for IEM disorders
Affiliation(s): Royal Institute of Child Neurosciences, Ahmedabad
Principle interest(s): A brief write up about your current research.
Neurogenetics, Neuromuscular disorders and Stroke
PI for Phase 3 trial of Ataluren in DMD patients
Recent speaker for Genetics in stroke at AOCN seminar July 21 and ICNC International conference 2018
Core member for writing guidelines in the management of stroke
Publications on COL4A1 and presentations in childhood
In submission case report on Juvenile Tay Sachs Disease
Area(s) of research:
As above
Title of ISIEM2021 talk: Neuroimaging clues for IEM disorders
Dr. Sridhar Sivasubbu
Senior Principal Scientist at the CSIR-Institute of Genomics
and Integrative Biology (IGIB), Delhi, India. His research interests are focused on
sequencing human genomes for adoption and benefit in healthcare with applications in
rare genetic disorders. He also develops zebrafish models for application in precision
medicine in humans. His laboratory also explores non-coding RNA mediated regulation
of vascular development and diseases, wherein his group is credited with the discovery
of a number of non-coding RNAs.
Dr. Sivasubbu co-founded the Genomics for Understanding Rare Disease: India
Alliance Network (GUaRDIAN), which is one of the largest precision medicine
ecosystem in India working on rare genetic diseases. He also served as the chief
scientific officer of The Center for Genomic Application, a Public-Private partnership
company established by IGIB. Dr. Sivasubbu completed his PhD from M.S University,
India and postdoctoral research from the CSIR-Center for Cellular and Molecular
Biology, India and the University of Minnesota, USA, with specializations in genetics
and genomics.
Major Research Areas
• Personalized and precision medicine in humans.
• Developing zebrafish models for application in precision medicine.
• Elucidating non-coding RNA mediated regulation of Vascular and Cardiovascular
development and diseases.
Technology Commercialization
2 Technologies & 28 Molecular diagnostic assays
Publications: 129
Complete list of publication is available at:
https://pubmed.ncbi.nlm.nih.gov/?term=Sridhar+Sivasubbu&sort=date
and Integrative Biology (IGIB), Delhi, India. His research interests are focused on
sequencing human genomes for adoption and benefit in healthcare with applications in
rare genetic disorders. He also develops zebrafish models for application in precision
medicine in humans. His laboratory also explores non-coding RNA mediated regulation
of vascular development and diseases, wherein his group is credited with the discovery
of a number of non-coding RNAs.
Dr. Sivasubbu co-founded the Genomics for Understanding Rare Disease: India
Alliance Network (GUaRDIAN), which is one of the largest precision medicine
ecosystem in India working on rare genetic diseases. He also served as the chief
scientific officer of The Center for Genomic Application, a Public-Private partnership
company established by IGIB. Dr. Sivasubbu completed his PhD from M.S University,
India and postdoctoral research from the CSIR-Center for Cellular and Molecular
Biology, India and the University of Minnesota, USA, with specializations in genetics
and genomics.
Major Research Areas
• Personalized and precision medicine in humans.
• Developing zebrafish models for application in precision medicine.
• Elucidating non-coding RNA mediated regulation of Vascular and Cardiovascular
development and diseases.
Technology Commercialization
2 Technologies & 28 Molecular diagnostic assays
Publications: 129
Complete list of publication is available at:
https://pubmed.ncbi.nlm.nih.gov/?term=Sridhar+Sivasubbu&sort=date
Dr. Subha Phadke
Dr. Sujatha Jagdeesh
Head dept of Clinical Genetics
Affiliation(s):at Mediscan Chennai
Principle interest(s): Since 22 years Involved in teaching and training fetal medicine students. Run a support group for children with LSDs. Have started a one point care Centre for LSD , SMA, IEMs and Down syndrome at Centre for rare diseases Adayar where I hold the post of Director. Coordinator for Birth Defects Registry of India - a venture of Fetal care research foundation Involved in counseling mothers who carry fetus with abnormality, families with previous children with birth defects, recurrent pregnancy losses , infertility . Special interest in planning diet and follow up along with our team dietician for children IEMs Authored chapters in books Have publications in national and international indexed journalsGiven talks in national and international conferences
Area(s) of research: Dysmorphology and IEM
Title of ISIEM2021 talk: MPS type IV: management and follow-up
Affiliation(s):at Mediscan Chennai
Principle interest(s): Since 22 years Involved in teaching and training fetal medicine students. Run a support group for children with LSDs. Have started a one point care Centre for LSD , SMA, IEMs and Down syndrome at Centre for rare diseases Adayar where I hold the post of Director. Coordinator for Birth Defects Registry of India - a venture of Fetal care research foundation Involved in counseling mothers who carry fetus with abnormality, families with previous children with birth defects, recurrent pregnancy losses , infertility . Special interest in planning diet and follow up along with our team dietician for children IEMs Authored chapters in books Have publications in national and international indexed journalsGiven talks in national and international conferences
Area(s) of research: Dysmorphology and IEM
Title of ISIEM2021 talk: MPS type IV: management and follow-up
Dr. Sumita Danda
Professor and Head
Affiliation(s): Department of Clinical Genetics, Christian Medical College and Hospital Vellore
Principle interest(s): Undertaking research in Alkaptonuria gene expression studies, Neurometabolic disorders, Homocysteine metabolism.
Training of Clinicians for Genetic disorders and molecular diagnosis, Undertaking Antenatal screening for thalassemia and sickle cell anaemia in Aspirational district of India
Area(s) of research: Alkaptonuria, Neurogenetic disorders, Recurrent abortions Mitochondrial disorders, Rare monogenic disorders, Genetics in Public Health, Maintaining registries for LSDs-Gaucher, MPS-I, Pompe, Fabry disease
Title of ISIEM2021 talk:
Alkaptonuria - clinicogenetic profile in Indian patients
Affiliation(s): Department of Clinical Genetics, Christian Medical College and Hospital Vellore
Principle interest(s): Undertaking research in Alkaptonuria gene expression studies, Neurometabolic disorders, Homocysteine metabolism.
Training of Clinicians for Genetic disorders and molecular diagnosis, Undertaking Antenatal screening for thalassemia and sickle cell anaemia in Aspirational district of India
Area(s) of research: Alkaptonuria, Neurogenetic disorders, Recurrent abortions Mitochondrial disorders, Rare monogenic disorders, Genetics in Public Health, Maintaining registries for LSDs-Gaucher, MPS-I, Pompe, Fabry disease
Title of ISIEM2021 talk:
Alkaptonuria - clinicogenetic profile in Indian patients
Dr. Sunita Bijarnia
Senior Consultant & Professor,
Affiliation(s):
Institute of Medical Genetics & Genomics,
Sir Ganga Ram Hospital, New Delhi
Principal interest(s):
All Inborn errors of metabolism
Area(s) of research including present research:
Genetic etiologies in childhood neuro-regression & LSDs.
Inherited disorders of homocysteine metabolism, leukodystrophies, mitochondriopathies, newborn screening
Carrier screening for common AR disorders in healthy individuals
Hereditary cancers and personalised genomic medicine
Title of ISIEM2021 talk:
How and when to suspect an IEM and its management
Affiliation(s):
Institute of Medical Genetics & Genomics,
Sir Ganga Ram Hospital, New Delhi
Principal interest(s):
All Inborn errors of metabolism
Area(s) of research including present research:
Genetic etiologies in childhood neuro-regression & LSDs.
Inherited disorders of homocysteine metabolism, leukodystrophies, mitochondriopathies, newborn screening
Carrier screening for common AR disorders in healthy individuals
Hereditary cancers and personalised genomic medicine
Title of ISIEM2021 talk:
How and when to suspect an IEM and its management
Dr. Suvarna Magar
Assistant Professor
Principle interest(s): 15 publications in national and international journals, mainly on genetic diseases, inborn errors of metabolism, Dysmorphology etc.
Area(s) of research: small molecule IEMs and lysosomal storage diseases, Thalassemia, Dysmorphology
Titile of ISIEM2021 talk: Nutrition in carbohydrate metabolic defects.
Principle interest(s): 15 publications in national and international journals, mainly on genetic diseases, inborn errors of metabolism, Dysmorphology etc.
Area(s) of research: small molecule IEMs and lysosomal storage diseases, Thalassemia, Dysmorphology
Titile of ISIEM2021 talk: Nutrition in carbohydrate metabolic defects.
Dr. Udhaya Kotecha
M.D. Pediatrics: Shri M P Shah Medical College
Fellowship in Medical Genetics: Sir Ganga Ram Hospital, Delhi
Served as an Associate Consultant at Sir Ganga Ram for 4 years
Ex-consultant - Clinical Geneticist (Neurology) at MedGenome Laboratories, Bangalore
Currently leads analysis and reporting of microarray and next generation sequencing for inherited disorders at Neuberg-Supratech Reference Laboratory.
Visiting Consultant –Medical Genetics, Zydus Hospital, Ahmedabad
Fellowship in Medical Genetics: Sir Ganga Ram Hospital, Delhi
Served as an Associate Consultant at Sir Ganga Ram for 4 years
Ex-consultant - Clinical Geneticist (Neurology) at MedGenome Laboratories, Bangalore
Currently leads analysis and reporting of microarray and next generation sequencing for inherited disorders at Neuberg-Supratech Reference Laboratory.
Visiting Consultant –Medical Genetics, Zydus Hospital, Ahmedabad
Dr. Uma Ramaswamy
FRCPCH, MD (Royal Free London Hospitals, University College London)
Affiliations(s): Consultant in Inherited Metabolic Disorders and Clinical Lead for the Lysosomal Disorders Unit at the Royal Free Hospital, London and an Honorary Senior Research Associate, Genetics and Genomics Department, University College London. Uma has a special interest in clinical research relating to understanding of the natural history and disease progression of inherited metabolic disorders. Uma leads transition services for young patients with inherited metabolic disorders and is the national clinical lead for the UK paediatric familial hypercholesterolaemia register. Uma has been a principal investigator and co-investigator for many pivotal clinical trials for lysosomal disorders. Uma has over 150 research works with 5200 citations, h-index 35, i10-index 62. Uma is a guest editor for Frontiers in Genetics and authored several chapters in metabolic medicine. Uma is a National Institute of Clinical Excellence (NICE) topic expert, Communicating Editor for Journal of Inherited Metabolic Disorders (JIMD), member of the teaching faculty at University College London, and an invited speaker at many national and international conferences, including patient organisation led conferences
Affiliations(s): Consultant in Inherited Metabolic Disorders and Clinical Lead for the Lysosomal Disorders Unit at the Royal Free Hospital, London and an Honorary Senior Research Associate, Genetics and Genomics Department, University College London. Uma has a special interest in clinical research relating to understanding of the natural history and disease progression of inherited metabolic disorders. Uma leads transition services for young patients with inherited metabolic disorders and is the national clinical lead for the UK paediatric familial hypercholesterolaemia register. Uma has been a principal investigator and co-investigator for many pivotal clinical trials for lysosomal disorders. Uma has over 150 research works with 5200 citations, h-index 35, i10-index 62. Uma is a guest editor for Frontiers in Genetics and authored several chapters in metabolic medicine. Uma is a National Institute of Clinical Excellence (NICE) topic expert, Communicating Editor for Journal of Inherited Metabolic Disorders (JIMD), member of the teaching faculty at University College London, and an invited speaker at many national and international conferences, including patient organisation led conferences
Dr. Usha Dave
Research Director & National Professor
Affiliation(s): MILS International India & Haffkine Institute, Mumbai.
Principle interest(s): Clinical, Molecular & Metabolic Diagnosis in IEM; Epilepsy Genetics; Brain Molecular Studies in Autism & ID; Newborn Screening; Mass Spectrometry using GC/ MS & TMS
Area(s) of research:
Genomic Studies Autism, Intellectual Disability & IEM;
Metabolomics & Biomarkers in Genetic Disorders & Cancer;
Reproductive Genetics; Prenatal Molecular Studies,
Community Genetics & Genetic Counseling.
Title of ISIEM2021 talk:
TMS vs GC/ MS in IEM Screening & Diagnosis- Benefits & Limitation.
Affiliation(s): MILS International India & Haffkine Institute, Mumbai.
Principle interest(s): Clinical, Molecular & Metabolic Diagnosis in IEM; Epilepsy Genetics; Brain Molecular Studies in Autism & ID; Newborn Screening; Mass Spectrometry using GC/ MS & TMS
Area(s) of research:
Genomic Studies Autism, Intellectual Disability & IEM;
Metabolomics & Biomarkers in Genetic Disorders & Cancer;
Reproductive Genetics; Prenatal Molecular Studies,
Community Genetics & Genetic Counseling.
Title of ISIEM2021 talk:
TMS vs GC/ MS in IEM Screening & Diagnosis- Benefits & Limitation.
Dr. Vinod Scaria
Principal Scientist
Affiliation(s): CSIR Institute of Genomics and Integrative Biology
Principle interest(s):
Genomics and Precision Medicine
Area(s) of research: Genomics and Genome Informatics
Title of ISIEM2021 talk: Genomics from personal to populations and back
Affiliation(s): CSIR Institute of Genomics and Integrative Biology
Principle interest(s):
Genomics and Precision Medicine
Area(s) of research: Genomics and Genome Informatics
Title of ISIEM2021 talk: Genomics from personal to populations and back
Dr. Virginia Kimonis
M.D Professor of Pediatrics Division of Genetics and Genomic Medicine University of California, Irvine, CA, USA
Area of special interest and research: Inclusion body myopathy associated with Paget disease of bone and Frontotemporal Dementia (IBMPFD):
- 2003, the Kimonis group identified the gene as Valosin- Containing Protein, or VCP
- The lab is identifying the molecular mechanisms involved in IBMPFD in cells and animal models with the goal of developing potential treatments.
Prader- Willi Syndrome (PWS) and Early-onset Morbid Obesity Natual History
- Natural History studies of PWS
- Clinical trials of PWS
Lysosomal Storage Disorders
- Resistance exercise study in Pompe disease
ASO treatment in Pompe disease Clinical trials , LSD Registries
Area of special interest and research: Inclusion body myopathy associated with Paget disease of bone and Frontotemporal Dementia (IBMPFD):
- 2003, the Kimonis group identified the gene as Valosin- Containing Protein, or VCP
- The lab is identifying the molecular mechanisms involved in IBMPFD in cells and animal models with the goal of developing potential treatments.
Prader- Willi Syndrome (PWS) and Early-onset Morbid Obesity Natual History
- Natural History studies of PWS
- Clinical trials of PWS
Lysosomal Storage Disorders
- Resistance exercise study in Pompe disease
ASO treatment in Pompe disease Clinical trials , LSD Registries
Dr. Vishal Kacchy
Fellow in Neonatal Medicine(AIMS)
Member ISCCM and Intensive Care Chapter- IAP
National instructor Basic NRP programme
Fellow in Post Graduate Programme in Pediatric Nutrition
Director Of Synergy Groups Of Hospital
Member ISCCM and Intensive Care Chapter- IAP
National instructor Basic NRP programme
Fellow in Post Graduate Programme in Pediatric Nutrition
Director Of Synergy Groups Of Hospital
Dr. Vykunta Raju
Professor of Pediatric Neurology
Affiliation(s): Indira Gandhi Institute of Child Health, Bangalore
Principle interest(s): In Padiatric Neurology, 120 PubMed indexed publications
Are(s) of research: Pediatric Neurology, Neurometabolic, Neurodegenerative disorders and Pediatric Epilepsy
Title of ISIEM2021 talk: When to suspect, DIagnosis and Management of Mitochondrial disorders
Affiliation(s): Indira Gandhi Institute of Child Health, Bangalore
Principle interest(s): In Padiatric Neurology, 120 PubMed indexed publications
Are(s) of research: Pediatric Neurology, Neurometabolic, Neurodegenerative disorders and Pediatric Epilepsy
Title of ISIEM2021 talk: When to suspect, DIagnosis and Management of Mitochondrial disorders