Nucleome Informatics Unveils Genetic Test for Inherited Retinal Diseases

A unique feature of this test is its saliva-based collection method, which removes the need for invasive blood samples.

Nucleome Informatics, a Telangana-based genomics services provider, has introduced the 'DrSeq IRD panel,' a new genetic test aimed at diagnosing Inherited Retinal Diseases (IRDs).

The test is particularly beneficial for individuals with a family history of blindness. It identifies genetic mutations linked to specific IRDs, enabling patients to participate in clinical trials or access treatments tailored to their genetic profiles.

The DrSeq IRD panel diagnoses a broad spectrum of retinal conditions, including Leber Congenital Amaurosis (LCA), Cone Dystrophy, Retinitis Pigmentosa (RP), Stargardt's Disease, and Macular Dystrophy.

A unique feature of this test is its saliva-based collection method, which removes the need for invasive blood samples.

Collaborative Development & Validation

The company shared in a statement that the test was developed in collaboration with the LV Prasad Eye Institute (LVPEI), the Department of Science and Technology (DST) of the Government of India, and Korean partners, including Seoul Eye Hospital.

It was validated by sequencing 300 IRD patients and 200 healthy family members in India, and similar results from a Korean study further confirmed its effectiveness across populations.

Emphasizing the significance of the DrSeq IRD panel, Dushyant Singh Baghel, CEO of Nucleome Informatics, said, "With this test, we aim to enhance early detection, improve treatment options, and support gene therapy initiatives worldwide. Nucleome Informatics is actively seeking global distribution partners and gene therapy companies targeting IRDs such as Leber Congenital Amaurosis, Stargardt's Disease, Retinitis Pigmentosa, and other conditions covered by the DrSeq IRD panel."

IRD disorders, which impact the retina and can lead to blindness, are genetically diverse. In India, the prevalence of IRDs varies from 1 in 350 to 1 in 2000, depending on region and consanguinity factors.

With over 300 associated genes, diagnosing IRDs has been challenging, though 20 key genes are responsible for most cases.

In another development in the genomics space, in June this year, Hyderabad-based MapmyGenome and US-based Humanity partnered to enhance personalized healthcare.

They will integrate genomic testing with data analytics and behavior change methods through the Humanity AI Health Coach App. This collaboration will offer actionable health insights to empower individuals in making proactive health decisions.