Genomics of Rare Genetic Disorders:
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Lot of Indian people are suffering from different types of inherited disorders and their frequency in the population lower than the established monogenic or polygenic dieses. As per WHO definitions, rare disease as often debilitating lifelong disease or disorder with a prevalence of 1 or less, per 1000 population. Major problems with rare disorders that they are muti-genic origin and variants are not common. Thus, it has been initiated to do case by case approach for identifying indigenous gene and variants using whole exome sequencing method.
Our group has discovered a novel variant of the CLDN16: NM_006580:exon2:c.T374C:p.F125S (Homozygous) responsible for Familial Hypomagnesemia with Hypercalciuric Nephrocalcinosis (FHHNC) type 1 (Published data) in a Bengali Patient. First two figures in below. (Thapa R, Roy A, Nayek K, Basu A. Identification of a Novel Homozygous Missense Mutation in the CLDN16 Gene to Decipher the Ambiguous Clinical Presentation Associated with Autosomal Dominant Hypocalcaemia and Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis in an Indian Family. Calcif Tissue Int. 2024;114(2):110-118. doi:10.1007/s00223-023-01142-8).
Recently group has discovered also the variant of CHRNE: NG_008029.2:g.6441_6454dup (Homozygous) is responsible inherited Myasthenia Gravis (unpublished data) in a Bengali patient as well other case studies for rare inflammatory disorders and variants. [ Archived preprint server] .
