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