Institute of Human Genetics

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Research Projects

Ongoing Research Projects

  • Multi Centric Collaborative Study of the Clinical biochemical and Molecular Characterization of Lysosomal Storage Disorders in India.
    Indian Council of Medical Research: 2013 – 2016. Dr Jayesh Sheth / Dr Frenny Sheth / Dr Prakash Gambhir / Dr Ashish Bavdekar / Dr Mahesh Kamate (Ref: TF-LSD/1/2010-BMS)
  • Quality Assurance Program for Molecular and Prenatal Diagnosis of Hemoglobinopathies.
    Indian Council of Medical Research: 2014-2017. Dr Kanjaksha Ghosh / Dr Jayesh Sheth (Ref: DHR/GIA/12/2014)
  • The clinical, enzymological and molecular study of children with Gaucher disease (GD): Identification of demographical loci on GD phenotype.
    Department of Biotechnology: 2016 – 2019. Dr Jayesh Sheth / Dr Frenny Sheth / Dr Ashish Bavdekar (Ref: BT/PR4112/MED/12/654/2014)
  • Detection of copy number variant and Mendelian disorders in children with malformations and intellectual disabilities of unknown etiology using various molecular modalities.
    Gujarat State Biotechnology Mission (Department of Science and Technology, Govt. of Gujarat): 2016 -2019. Dr. Frenny Sheth / Dr. Krati Shah (Project ID: 1419)
  • Completed Research Projects
  • Effects of genetic variants in PPARg2 and ADRb3 gene in type II diabetic subjects of Gujarat in relation to drug response (Thiazolidinedione). Gujarat Institute of Chemical Technology [GICT]: 2012 – 2015. Dr Jayesh Sheth/Dr Frenny Sheth/Dr Navneet Shah
  • Genetics of consanguinity in children with multiple disabilities. National Institute of Empowerment of Persons with Multiple disabilities (Ministry of Social Justice and Empowerment, Govt. of India, Muttukadu, Chennai): 2012. Under Dr Frenny Sheth : PI
  • Mutation study of the prevalent Lysosomal storage disorders in India and extension of Lysosomal enzyme study in Western India. Indian Council of Medical Research: 2010-2013. Ref. 54/1/2009-BMS by Dr Jayesh Sheth : PI
  • Preparation and Standardization of FISH Probes For Various Genetic Disorders And Extension Of Services In Gujarat. Department of Biotechnology: 2008-2010. Ref. BT/PR9111/MED/12/337/2007 by Dr Frenny Sheth : PI
  • Study of Genetic susceptibility to Neural Tube Defects and its Association with Maternal vitamin B12 and Folate status. Department of Biotechnology: 2007-2009. Ref. BT/PR-7585/PID/20/298/2006/29.9.06 by Dr Jayesh Sheth : Co PI
  • Study of Lysosomal Storage Disorders in Children with Regression of Milestone. Indian Council of Medical Research : 2005-2009. Ref. 54/2/2005-BMS by Dr Jayesh Sheth : PI
  • Prostate Neoplasm: Impact of PSA, Growth Factor and Other Markers in the early identification and differentiation. Gujarat Council for Scientific Research : 2005-2006. Ref. GUJCOST/192/03-04 by Dr Jayesh Sheth : PI
  • Herbal Based preparations for Degenerative disorders: Diabetes mellitus type II (NIDDM) with emphasis on insulin sensitization. Council for Scientific and Industrial Research : 2004-2008. Ref: 5/258/12a/2002-NMITLI by Dr Jayesh Sheth : Co PI

Research Focus for future

  • To develop micro-deletion panel using microarray
  • To explore the possibility of DNA vaccine
  • Array-CGH study in multiple Congenital Anomalies (MCA)
  • Work towards the possibilities of developing indigenous enzymes for ERT in LSDs
  • Gene-Nutrition interaction in type II diabetes