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Nucleome Informatics Introduces a Novel Genetic Test for Inherited Retinal Diseases

NextEdge Admin

09 Sep 2024

2 min 32 sec

Nucleome Informatics, a leading genomics services provider, has launched the DrSeq IRD panel, a comprehensive genetic test for diagnosing inherited retinal diseases (IRDs). This novel test, one of the most advanced globally, aims to improve early detection and management, especially in individuals with a family history of blindness.

IRDs are a genetically diverse group of disorders that affect the retina, leading to vision impairment or blindness. In India, their prevalence varies between 1 in 350 to 1 in 2000, depending on factors like consanguinity. Diagnosing these conditions is challenging due to clinical and genetic heterogeneity, with over 300 genes linked to IRDs. The DrSeq IRD panel covers 850 genes and thousands of known and novel variants, offering exceptional diagnostic accuracy.

The test identifies genetic mutations responsible for specific IRD types, which is crucial for personalized treatment, including gene therapy. As gene therapies advance, genetic testing plays a vital role in helping patients access clinical trials and targeted therapies tailored to their genetic profiles.

In partnership with LV Prasad Eye Institute (LVPEI), the Department of Science and Technology (DST), and Korean collaborators, Nucleome Informatics developed the DrSeq IRD panel by sequencing 300 Indian IRD patients and 200 healthy family members. A similar study was conducted in Korea to validate its effectiveness.

Dushyant Singh Baghel, CEO of Nucleome Informatics, emphasized the test's role in advancing early detection, treatment options, and global gene therapy efforts for conditions like Leber congenital amaurosis, Stargardt’s disease, and retinitis pigmentosa. The company is actively seeking global distribution partners and gene therapy collaborators.