Present Designation
Professor & Unit Head, Genetic Metabolic Unit, Department of Pediatrics, PGIMER, Chandigarh, India.
Major Achievements
- Started DM (Medical Genetics) course at PGIMER
- Established Genetic Counseling services
- Worked at IMS (BHU), SGPGIMS, AIIMS, and PGIMER
Publications
Around 150 journal articles, over 130 indexed in Medline, including at least 7 review articles.
Fields of Interest
Thalassemia, Dysmorphology, Metabolic Disorders, Intellectual Disability, Cancer Genetics, Genomics, Perinatal Medicine
Books Edited
- Handbook on Medical Genetics & Genetic Counseling (2013, 2021)
- Handbook on Down Syndrome (2017)
- Birth Defects and Disability – A Beginner’s Guide (2018)
Current Research
Congenital Deafness, Osteogenesis Imperfecta / WNT Signaling, Gaucher Disease, Primordial Dwarfism, Brachydactyly
Documentaries
- Brittle Bones: A Ray of Hope (2015) – Osteogenesis Imperfecta
- Thalassemia: A Tell Tale of Broken Cells (2015)