Page 28 - Annual report 2021-22

Annual Report 2021-22 |

In collaboration with Vaishali Suri, AIIMS, New Delhi, robust and inexpensive diagnostic biomarkers
(especially miRNAs) for early detection of gliomas are being developed. To this end, a targeted gene
sequencing panel for application to identify different mutations and fusions was designed using
literature search and genes taken from commercially available gene panel such as Mayo Clinic. It
included 76 genes and multiple fusions of 12 genes. Genes from the commercially available Neuro
Oncology Panel of Mayo Clinic Laboratory were also included which also includes fusions. 11

Faruq has been closely working in close association with Vinod Scaria on the GOMED programme that
entails pan-India service for genetic disorders diagnosis to more than 100+ hospitals. GOMED has been
offering quality services, discovery and possible tech-transfers to the commercial entities. Since it
started in 2015, the testing has been extended to the 10000+ patients and for 300+ single genes
disease testing. Extensive research has been done using NGS. A novel disorder of bone development
has been identified. Capillary sequencing-based genetic tests encompassing a variety of disease
conditions and specialties including Movement Disorders, Motor Neuron Disease, Familial Stroke,
Mitochondrial Disorders, Developmental and Inborn error of metabolism, Leukodystrophies, and
Ophthalmological diseases.
One important outcome of GOMED has been the generation of resources like building up of a cohort
of clinical and genetically investigated 11,000 patients and a database of allele frequency of clinical
markers (ClinIndb: http://clinindb.igib.res.in) and identification of novel gene markers for rare
disorders.

“Science is not a heartless pursuit of objective information. It is a

creative human activity, its geniuses acting more as artists than as
information processors.” — Stephen Jay Gould