Dr Jayesh Sheth has obtained his Master and PhD in Biochemistry from Mumbai University in 1983 and Diploma certificate in Reproductive Biology and Reproductive Medicine from University of Geneva in 2002. He is also a Fellow of UICC and Indian college of Mother and Child health.
Dr Sheth is the founder member and Chairman of Foundation for Research in Genetics and endocrinology (FRIGE) and the Institute of Human Genetics in Ahmedabad-Gujarat.
He was also an Hon. Associate Professor of Endocrinology at Sheth VS Hospital and NHL Municipal Medical College,Ahmedabad from 1988 till 2008.
He has more than 130 research publications to his credit and also authored one book on Genetics in Clinical Practice :Symptoms,Diagnosis and Therapy by Jaypee Brothers along with many chapters related to Genetics.
He has performed pioneering work in the area of rare genetic diseases with special focus on Lysosomal storage disorders. He was the first one to report about the occurrence of different LSDs in India in 2004 and later on burden of various LSDs in the country in 2013.
He was a member of the National task force on LSDs by ICMR-DHR,GOI and also a member of the National registry for rare diseases and rare disease research by ICMR.
His work on LSDs has identified founder mutation for Tay Sachs and Morquio-A disease and also identified p.L444P as the most common mutation for Gaucher disease in India.
His other work includes elucidating the role of MTHFR gene, Folate and Thiol concentration in mother with Down syndrome child, and mother with Neural tube defects in a child.
His other work in the area of antenatal screening, prenatal diagnosis of LSDs, role of Vitamin D in type 2 diabetes, thyroid disorders and the role of HLA polymorphism in carbamazepine metabolism has provided a framework for forming national health and nutrition guidelines.