Nucleome Informatics unveils DrSeq IRD panel for advanced diagnosis of retinal diseases

New Delhi: Nucleome Informatics has launched the DrSeq IRD panel, a state-of-the-art genetic test designed to diagnose Inherited Retinal Diseases (IRDs). This test represents a major advancement in early detection and management of these conditions, particularly benefiting individuals with a family history of blindness.

The DrSeq IRD panel from Nucleome Informatics is designed to address this complexity by covering a wide range of IRDs, including Leber Congenital Amaurosis, Cone Dystrophy, Cone Rod Dystrophy, Retinitis Pigmentosa, Stargardt’s Disease, Macular Dystrophy, Congenital Stationary Blindness, Vitelliform Macular Dystrophy, Bardet-Biedl Syndrome, Usher Syndrome, Choroideremia, Achromatopsia, and Bestrophinopathy. 

Featuring 850 genes and thousands of known and new variants, this panel offers superior diagnostic accuracy, crucial for pinpointing the exact genetic mutations responsible for these diseases and informing treatment options, including gene therapies.

Developed in collaboration with the LV Prasad Eye Institute (LVPEI), the Department of Science and Technology (DST) of the Government of India, and Korean institutions like Seoul Eye Hospital, the DrSeq IRD panel was validated through sequencing studies involving 300 IRD patients and 200 healthy family members in India, along with a similar study in Korea. Notably, the panel uses a saliva-based collection method, allowing patients to provide samples at home easily, which are then analyzed at Nucleome’s advanced laboratory in Hyderabad.

Dushyant Singh Baghel, CEO of Nucleome Informatics, introduced the DrSeq IRD panel at a conference held at Stanford University in San Francisco. He highlighted, “The DrSeq IRD panel marks a significant step forward in tackling the challenges posed by Inherited Retinal Diseases. With this test, we aim to enhance early detection, improve treatment options, and support gene therapy initiatives worldwide. Nucleome Informatics is actively seeking distribution partners globally, as well as gene therapy companies that are targeting IRDs such as Leber Congenital Amaurosis, Stargardt’s Disease, Retinitis Pigmentosa, and other conditions covered by the DrSeq IRD panel.”  

Inherited Retinal Diseases are a group of genetic disorders impacting the retina, potentially leading to severe vision loss or blindness. In India, the incidence of these diseases ranges from 1 in 350 to 1 in 2000, depending on regional factors and levels of consanguinity. Identifying these conditions has been difficult due to their genetic complexity, with over 300 associated genes, although most cases are linked to mutations in just 20 key genes.