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Centre Principal Investigators:
Professor K Thangaraj, Director, CDFD
Email: thangs@cdfd.org.in;
Webpage: http://www.cdfd.org.in/labpages/dir_group.html
Dr Ashwin Dalal MD (Paediatrics), DM (Medical Genetics), Group Leader, Diagnostics, CDFD
Email: adalal@cdfd.org.in;
Webpage: http://www.cdfd.org.in/labpages/ashwindalal.html
- About CDFD
CDFD is an autonomous institute, funded primarily by the Indian Government’s Department of Biotechnology (DBT) and is involved in diagnostics, research and teaching activities. The Centre is equipped with state-of-the-art diagnostics, instrumentation and computing infrastructure to underpin a wide range of biological research across 19 diverse departments. Its computing infrastructure supports a very strong bioinformatics core
- Summary of diagnostics capability and expertise at CDFD
The genetic diagnostic laboratory at Centre for DNA Fingerprinting & Diagnostics offers comprehensive diagnosis of genetic diseases using cytogenetic, biochemical and molecular genetic tests. The centre also offers prenatal diagnosis for detection of chromosomal abnormalities, single gene disorders and inborn errors of metabolism. In addition to providing genetic diagnostic services, the laboratory carries out research work on molecular pathophysiology and mapping of mendelian genetic disorders.
- Top five publications of the ICGNMD PIs
- 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. Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency. Hum Mutat. 2021 Oct;42(10):1336-1350.
- 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. Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III. J Hum Genet. 2020 Nov;65(11):971-984.
- 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. 2019 Sep;111(5):1108-1114.
- Kar A, Phadke SR, Das Bhowmik A, Dalal A. Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis, and polydactyly. Am J Med Genet A. 2018 Jan;176(1):34-40.
- Shukla A, Das Bhowmik A, Hebbar M, Rajagopal KV, Girisha KM, Gupta N, Dalal A. Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis. J Hum Genet. 2018 Jan;63(1):19-25.
- CDFD and the ICGNMD
CDFD is a critical ICGNMD partner in India, providing gold-standard gene testing for a wide range of neuromuscular and neurogenetic diseases and intellectual insights into these diseases. The combined and co-ordinated activities of Professor Thangaraj and Dr Dalal across CDFD and CCMB, both in Hyderabad, ensure a comprehensive range of in-country genetic testing is possible for the ICGNMD project.
