Nucleome Informatics, a leader in genomics services, has launched the DrSeq IRD panel, a breakthrough genetic test designed to diagnose Inherited Retinal Diseases (IRDs). This innovative test is among the most comprehensive in the world and aims to significantly improve early detection and disease management, particularly for individuals with a family history of blindness.

Inherited Retinal Diseases represent a broad range of genetic disorders that affect the retina, often leading to vision loss or blindness. In India, the prevalence of these diseases varies from 1 in 350 to 1 in 2000, depending on factors such as consanguinity and regional differences. However, diagnosing IRDs has been challenging due to their genetic complexity. More than 300 genes have been linked to IRDs, but the majority of cases are caused by mutations in a set of 20 key genes. This complexity has made accurate diagnosis difficult, but Nucleome’s DrSeq IRD panel addresses this issue by covering an extensive range of retinal conditions.

The DrSeq IRD panel includes 850 genes and thousands of known and novel variants, offering superior diagnostic accuracy. The test is designed to identify the genetic mutations responsible for specific types of IRDs, which is critical for determining the most appropriate treatment options, especially as advancements in gene therapy continue. As gene therapies progress, genetic testing is becoming increasingly important for patients who may qualify for clinical trials or need targeted treatments tailored to their genetic profile.

Nucleome Informatics worked in collaboration with several leading institutions to develop the DrSeq IRD panel. Partners include LV Prasad Eye Institute (LVPEI), the Department of Science and Technology (DST) of the Government of India, and Korean counterparts like Seoul Eye Hospital. The panel was created by sequencing 300 IRD patients and 200 healthy family members from India. A similar study conducted with Korean patient samples validated the panel’s effectiveness across different populations. This comprehensive research has resulted in a genetic test that provides accurate and reliable results, crucial for both patients and healthcare providers.

One unique feature of the DrSeq IRD panel is its saliva-based collection method, which simplifies the process of providing genetic material for analysis. Patients can now easily provide saliva samples from the comfort of their own homes using a collection kit, eliminating the need for blood samples. Once collected, the samples are analyzed at Nucleome’s state-of-the-art laboratory in Hyderabad, ensuring that the process is both convenient and efficient for patients.

The official launch of the DrSeq IRD panel was announced by Mr. Dushyant Singh Baghel, CEO of Nucleome Informatics, during a recent conference at Stanford University, San Francisco. Speaking about the global potential of the test, Mr. Baghel expressed his excitement about its impact on IRD diagnosis and treatment. “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,” he said.

Nucleome Informatics is also actively seeking distribution partners across the globe, along with gene therapy companies that focus on treating IRDs such as Leber Congenital Amaurosis, Stargardt’s Disease, and Retinitis Pigmentosa. By working with these companies, Nucleome hopes to extend the benefits of its DrSeq IRD panel to patients worldwide, offering a reliable and accessible tool for diagnosing and managing retinal diseases.

As gene therapy continues to evolve, the importance of genetic testing is becoming more apparent. Tests like the DrSeq IRD panel are essential for identifying specific genetic mutations, allowing healthcare providers to offer personalized treatment plans that can dramatically improve patient outcomes. By facilitating early detection and more precise interventions, the DrSeq IRD panel is set to transform the way retinal diseases are diagnosed and treated.

Nucleome Informatics extends its sincere gratitude to its collaborators, including the Technology Development Board, DST, Government of India, LV Prasad Eye Institute, and Korean partners, for their support in making this project a reality. With the launch of this innovative genetic test, the company is poised to make a lasting impact on the diagnosis and treatment of IRDs, both in India and globally.