Rare diseases pose a significant medical and societal challenge because they affect ~5% of the population. A vast majority of rare diseases are genetic in origin. Rare Diseases are often difficult to define, diagnose, manage and treat.
I am a Clinician Scientist who combines genomics with functional and clinical studies in rare human genetic disorders. My current research programs have following themes - (1) performing systematic analysis of whole genome data to discover novel diseases; (2) understanding the mechanisms of paediatric disorders of chromatin remodelling and inborn errors of metabolism to develop new treatments; (3) understanding the contribution of copy number and non-coding variants in Mendelian disorders; and (4) establishing cohorts of paitents with rare disorders for natural history studies and clinical trials.
I hold a joint position at the Manchester Centre for Genomic Medicine (Manchester University NHS Trust) as a Consultant Clinical Geneticist. In my clinical prcatice I see children and adults with a range of genetic disorders.
I am the Founding Clinical Director of the Manchester Rare Conditions Centre.
Overall, the aim of my work is to improve diagnosis, management and treatment of rare diseases.
I graduated in Medicine (MBBS) from Lokmanya Tilak Medical College (University of Mumbai) in 2002, obtained Membership of Royal College of Paediatrics and Child Health (MRCPCH) in 2006 and joined Clinical Genetics training programme in Manchester in 2007. I was awarded a Research Training Fellowship by the NIHR Manchester Biomedical Research Centre from 2008 to 2011 and was awarded PhD by the University of Manchester in 2012. I obtained my Certificate of Completion of Specialist Training (CCST) in Clinical Genetics training in 2013 and was subsequently appointed as Clinical Senior Lecturer and Consultant Clinical Geneticist in July 2013. I have been in my current position from 2021.