I am a Clinician Scientist working at the Division of Evolution and Genomic Sciences (University of Manchester). I hold a joint position at the Manchester Centre for Genomic Medicine (St Mary's Hospital, Manchester University NHS Trust) as a Consultant Clinical Geneticist.
My research group uses a combination of genomics, clinical and functional studies to (1) identify novel disease-genes and mechanisms; (2) improve interpretation of genomic data; and (3) delineate the phenotypic spectrum of rare gene diseases.
My current research programs are primarily around the paediatric disorders of chromatin remodelling, conditions caused by copy number variations and inborn errors of metabolism. I am the Research co-ordinator for the European Reference Network for Intellectual Disabilities and Congnenital Malformations (ERN-ITHACA). I established and run the Chromatin Disorders Clinic at the Manchester Centre for Genomic Medicine. I am the Pathway lead for the MSc for the NHS National Genomics Scientist Training Program (STP).
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. I have been in my current position since July 2013.
Development of new laboratory services for patients with rare disorders
- I led the development of a NGS based panel of 226 genes for clinical diagnosis of rare metabolic diseases. This panel is now in service at the Regional Molecular Genetics lab in Manchester and more than 500 results have been issued so far.
- I led introduction of testing for two new genes in the Regional Genetics Laboratory in Manchester for Kabuki syndrome. This service was used by a large number of patients in the region, across the country and world and more than 500 results were issued.
Public engagement programs
- I have regularly contributed to Pernicious Anaemia Society Conferences as a speaker and written articles for their newsletter.
- Spoke on the topic of Genetics of Angelman Syndrome at ASSERT patients' conference.
- I wrote an article on Inherited Disorders of cobalamin for CLIMB patients support organization.
I offer Nuffield Research Placements in my research group. These placements give sixth form students hands-on experience of a professional research environment through a 4 - 6 week placement in their summer holidays.