Profile
Dr. Ashwin Dalal exemplifies excellence in medical genetics, beginning with the prestigious accolade of a Gold Medal in his MBBS exams. He furthered his expertise by completing his MD in Pediatrics at Goa Medical College, Goa University, followed by a DM in Medical Genetics at the renowned Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow.Currently, as the Staff Scientist and Head of the Diagnostics Division at the Centre for DNA Fingerprinting and Diagnostics (CDFD) in Hyderabad, Dr. Dalal spearheads a state-of-the-art genetic diagnostic laboratory. Here, he provides comprehensive genetic diagnoses, counseling, and prenatal screening for genetic diseases. Dr. Dalal's influence extends beyond the laboratory, as he played a pivotal role in establishing the Department of Medical Genetics at Nizam’s Institute of Medical Sciences (NIMS), Hyderabad. He also serves as an Adjunct Visiting Professor at the Department of Medical Genetics, Kasturba Medical College, Manipal. He is also dedicated to education, contributing to textbooks and delivering lectures at medical colleges and national conferences.Recognized for his expertise, Dr. Dalal has served on various task forces for governmental bodies, including the Department of Biotechnology, Indian Council of Medical Research, and Department of Science and Technology, Ministry of Health and Family Welfare
Current Focus Areas
Identification and characterization of variants in known and novel genes for rare genetic diseases
Selected Publications
Udupa P, Ghosh DK, Kausthubham N, Shah H, Bartakke S, Dalal A, Girisha KM, Bhavani GS. Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis. J Hum Genet. 2023 Apr;68(4):287-290.
Dutta UR, Rao SN, Pidugu VK, V S V, Bhattacherjee A, Bhowmik AD, Ramaswamy SK, Singh KG, Dalal A. Breakpoint mapping of a novel de novo translocation t(X;20)(q11.1;p13) by positional cloning and long read sequencing. Genomics. 2018 111(5):1108-1114
Deshpande D, Gupta SK, Sarma AS, Ranganath P, Jain S JMN, Sheth J, Mistri M, Gupta N, Kabra M, Phadke SR, Girisha KM, Dua Puri R, Aggarwal S, Datar C, Mandal K, Tilak P, Muranjan M, Bijarnia-Mahay S, Rama Devi A R, Tayade NB, Ranjan A, Dalal AB. 2021 Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency. Hum Mutat. Oct;42(10):1336-1350
Kausthubham N, Shukla A, Gupta N, Bhavani GS, Kulshrestha S, Das Bhowmik A, Moirangthem A, Bijarnia-Mahay S, Kabra M, Puri RD, Mandal K, Verma IC, Bielas SL, Phadke SR, Dalal A, Girisha KM. 2021 A dataset of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians. Hum Mutat. Apr;42(4):e15-e61
Pasumarthi D, Gupta N, Sheth J, Jain SJMN, Rungsung I, Kabra M, Ranganath P, Aggarwal S, Phadke SR, Girisha KM, Shukla A, Datar C, Verma IC, Puri RD, Bhavsar R, Mistry M, Sankar VH, Gowrishankar K, Agrawal D, Nair M, Danda S, Soni JP, Dalal A. 2020 Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III. J Hum Genet. ;65(11):971-984.