Clinical and genomic characterization of Indian patients with Arthrogryposis Multiplex Congenita (AM
33/26/2019-TF/Rare/BMS
ICMR
Jan. 1, 2020
Dec. 31, 2022
Three Year
Arthrogryposis Multiplex Congenita
In vitro study
Quantitative data
To delineate the clinical and molecular spectrum of AMC. To identify novel phenotypes and/or genotypes and expand existing knowledge of AMC
Arthrogryposis next generation sequencing, exome sequencing, genomics
The novel phenotypic & molecular findings observed through this project has expanded the existing knowledge about the underlying molecular mechanisms of AMC. This project has been helpful in establishing a robust pipeline, a virtual AMC panel, and infrastructure for doing bioinformatics analysis.
53,80,020/-
Dr. Neerja Gupta/None/Division of Genetics , AIIMS, New Delhi