Researchers at a national biobank for rare inherited diseases have characterized the severe neurodegenerative condition Gaucher disease type 2 (GD2) among 19 Indians1, a population in which the disorder is historically underexplored.
The researchers, at the Lysosomal Storage Disorders biobank in Ahmedabad, say understanding the clinical, biochemical, and molecular spectrum of GD2 among Indians will help in discovering new drugs and improved diagnostic techniques specifically targeted at the population.
Because GD2 could be fatal, mapping specific population metrics is essential to enable early identification, genetic counseling, and prenatal diagnosis, says lead researcher Jayesh Sheth at the Foundation for Research in Genetics and Endocrinology, Ahmedabad.
Gaucher disease (GD) is the most common lysosomal storage disorder, caused by pathogenic variants inherited from both parents in the GBA1 gene. Research on this disease has been limited due to lack of data.
The biobank routinely collects and preserves biological specimens, including genomic DNA, plasma, urine, and detailed clinical, biochemical, enzymatic, and molecular data. It has data from more than 530 patients representing ...