Page 87 - CSIR-IGIB Annual Report 2020-21

Clinical and functional Genetics of for the first time globally with the aim of making
spinocerbellar ataxias (SCA) disease cell line models we have established
over 50 Lymphoblastoid cell lines of various
In collaboration with Neurology Department of hereditary form of Ataxias. One such example is
AIIMS, and CSIR-IGIB, our group has been able Friedreich Ataxia (FRDA). In FRDA, we used
to establish (one of the largest repositories of patient cell lines and in collaboration with
world and largest of India >7000 patients) Wisconsin University, we were able to
repository of SCA patients. In this area we have demonstrate and validate a novel synthetic
identified and characterized different SCA molecule which can overcome molecular
subtypes prevalent in Indian populations. We deficiency for FRDA.
have identified novel SCA subtypes in Indian
population, previously not reported in Indian Clinical Genomics and Genetics
population with the help of genetics tools
including next generation sequencing. Our Our lab has initiated a Pan-India clinical network
group is actively involved in identification novel for providing clinical genetic services for
genes and mutations for Indian SCA patients. prevalent genetic disorders in Indian context.
We have deployed over 300 different genetic
One notable contribution our group made is tests (single gene tests) as clinical genetic
identification of a uniquely prevalent form of services and so far, we have catered over 30,000
SCA subtype in Indian population i.e., SCA12. tests to more than 10,000 patients referred
We have also established and created Induced from more than 200 hospitals network in India
Pluripotent stem cell derived cell line of SCA12, (http://gomed.igib.in)

Publications

C9orf72 hexanucleotide repeat expansion in Indian patients with ALS: a common founder and its geographical
predilection. Shamim U, Ambawat S, Singh J, Thomas A, Pradeep-Chandra-Reddy C, Suroliya V, Uppilli B, Parveen
S, Sharma P, Chanchal S, Nashi S, Preethish-Kumar V, Vengalil S, Polavarapu K, Keerthipriya M, Mahajan NP, Reddy
N, Thomas PT, Sadasivan A, Warrier M, Seth M, Zahra S, Mathur A, Vibha D, Srivastava AK, Nalini A, Faruq M.
Neurobiol Aging. 2020 Jan 3. pii: S0197-4580(19)30453-1.

mTOR pathway activation in focal cortical dysplasia. Kumari K, Sharma MC, Kakkar A, Malgulwar PB, Pathak P, Suri
V, Sarkar C, Chandra SP, Faruq M. Ann Diagn Pathol. 2020 Jun;46:151523.

Encephalopathy due to defective mitochondrial and peroxisomal fission 2 caused by a novel MFF gene mutation in
a young child. Panda I, Ahmad I, Sagar S, Zahra S, Shamim U, Sharma S, Faruq M. Clin Genet. 2020 Jun;97(6):933-
937.

An Indian child with Coats plus syndrome due to mutations in STN1. Passi GR, Shamim U, Rathore S, Joshi A, Mathur
A, Parveen S, Sharma P, Crow YJ, Faruq M. Am J Med Genet A. 2020 Sep;182(9):2139-2144.

Integrated genomic view of SARS-CoV-2 in India. Kumar P, Pandey R, Sharma P, Dhar MS, A V, Uppili B, Vashisht H,
Wadhwa S, Tyagi N, Fatihi S, Sharma U, Singh P, Lall H, Datta M, Gupta P, Saini N, Tewari A, Nandi B, Kumar D, Bag
S, Gahlot D, Rathore S, Jatana N, Jaiswal V, Gogia H, Madan P, Singh S, Singh P, Dash D, Bala M, Kabra S, Singh S,
Mukerji M, Thukral L, Faruq M, Agrawal A, Rakshit P. Wellcome Open Res. 2020 Aug 3;5:184.

Seven novel genetic variants in a North Indian cohort with classical homocystinuria. Kaur R, Attri SV, Saini AG,
Sankhyan N, Singh S, Faruq M, Ramprasad VL, Sharda S, Murugan S. Sci Rep. 2020 Oct 14;10(1):17299.

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