Saturday, August 28
Sunday, August 29
Abstract Submission Guidelines
Offices and Committes
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
Dr. Anil Jalan
Dr. Ashish Bavdekar
Dr. Ashok Vellodi
Dr. Ashwin Dalal
Head, Diagnostics Division
Centre for DNA Fingerprinting and Diagnostics
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. Atul Mehta
Dr. Chaitanya Datar
Clinical & Metabolic Geneticist, Director, Sujanan Clinics
Affiliation(s): SUJANAN CLINICS, BHARATI HOSPITAL & RESEARCH CENTER, KEM HOSPITAL, Pune
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 Dutta
Dr. Harsh Patel
Consultant Paediatric Neurologist
Affiliation(s): Zydus Hospital, Ahmedabad and Sheth L.G. Hospital, Ahmedabad
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
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. Inusha Panigrahi
Professor, Genetic Metabolic Unit, Department of Pediatrics
PGIMER, Chandigarh-12, India
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
Dr. Koumudi Godbole
Dr. Madhulika Kabra
Dr. Mamta Muranjan
Dr. Neerja Gupta
Dr. P K Mistry
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)
Dr. Prakash Gambhir
Dr. Radha Rama Devi
Dr. Raju C Shah
Dr. Ratna Puri
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
Dr. Siddharth Shah
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
Prof. Julien Baruteau
UK Medical Research Council Clinician Scientist Fellow
University College London Great Ormond Street Institute of Child Health, UK
Great Ormond Street Hospital for Children, London, UK
Principle interest(s): Dr Baruteau’s research interest focusses in developing novel therapies for inherited metabolic diseases, focussing on urea cycle defects. He showed proof of concept of adeno-associated viral vector (AAV) mediated gene therapy for argininosuccinic aciduria. He is co-leading a translational programme of AAV gene therapy for paediatric ornithine transcarbamylase deficiency. In 2020, he was awarded a Clinician Scientist Fellowship by the UK Medical Research Council to investigate the role of neuronal arginine metabolism
Area(s) of research: Novel therapies and urea cycle defects
Title of ISIEM2021 talk: An overview of liver gene therapy and urea cycle defects
Prof Rashid Merchant
Dr. Meenakshi Bhat
Dr. Seema Kapoor
Dr. Shalmi Mehta
Dr. Sheela Nampoothiri
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
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
Dr. Sunita Bijarnia
Dr. Suvarna Magar
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. 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.
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
Dr. Vinod Scaria
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
Prof. I C Verma
Prof. Sir John Burn
Professor of Clinical Genetics
Affilation(s): Newcastle University
Principle interest(s): Rare diseases, malformations and genetic/genomic service organisation. Development of point of care genomic testing devices.
Area(s) of research: Discovered a late onset inborn error of metabolism known as neuroferritinopathy which presents as late onset neurological decline dur to iron/ferritin complex accumulation in the brain. Longstanding interest in the causes and diagnostic methods of hereditary cancer. International leader of the CAPP chemoprevention trials.
David H. McKenna
Professor of Laboratory Medicine & Pathology
Affiliation(s): University of Minnesota
Principle interest(s): My research centers on the translational (“bench to bedside”) development and current good manufacturing practices (cGMP) production of cell-based therapies. Current projects include research and/or clinical trials with peripheral blood-derived and induced pluripotent stem cell (iPSC)-derived natural killer cells, peripheral blood-derived and umbilical cord blood (UCB)-derived T regulatory cells, UCB-derived T progenitor cells, expanded UCB-derived hematopoietic stem cells, gene-edited tumor infiltrating lymphocytes, mesenchymal stem/stromal cells (MSCs), and iPSC for other applications.
Area(s) of research: Cell therapy product development, scale-up and optimization
Title of ISIEM2021 talk: Cell Therapies for Inborn Errors of Metabolism
Dr. Khanjan Shah