300 million people worldwide are affected by rare diseases and while over 7,000 rare diseases are known, less than 400 of those have approved treatments. Rare Genomics Institute (RG) is an international non-profit that makes cutting edge research technologies of genome sequencing, physicians and scientists around the world accessible to rare disease patients.
Omicia is committed to helping RG’s researchers identify the causes of rare cancers and other genetic disorders. In partnership with RG, Omicia has announced the recipients of this year’s BeHEARD Rare Disease Science Challenge, who will receive free access to Omicia’s Opal software in support of their ongoing research.
Rare Genomics Institute supports rare disease research through the donation of genome analysis software and services. One of the ways RG achieves this is through their BeHEARD (Helping Empower & Accelerate Research Discoveries) division, which brings pertinent industry solutions to academic researchers in order to increase visibility for their rare disease and facilitate their work.
The annual BeHEARD Rare Disease Science Challenge provides donated biotechnology prizes to research investigators based on submitted research proposals.
This year’s Challenge winners include three researchers who will use the Opal Research genome informatics and interpretation software donated by Omicia to further their studies of underrepresented diseases.
Dr. Chiara Manzini of The George Washington University was one of the winners who is using Opal to further her research. “We are working on a group of muscular dystrophies severely affecting movement and brain function, the dystroglycanopathies,” Dr Manzini said. “The principal difficulty we face in finding new genes responsible for these disorders is that there are multiple possible causes. The Opal software from Omicia will help us prioritize candidate genes to identify new genes for these devastating diseases.”
Dr. Yung-Hao Ching of Tzu Chi University in Taiwan will use the software to advance her team’s study of Usher Syndrome and possible co-expression of causative genes in the eye and inner ear.
A third awardee is using Opal to analyze genomic data in support of research on Waardenburg Syndrome type IV, although considered rare, may be the major type of WS in the Thai population. “We greatly appreciate the award from Omicia and believe that it will help more kids with rare disease, particularly Waardenburg Syndrome, in Thailand”, said Dr. Meng-Shin Shiao of the Ramathibodi Hospital, Mahidol University in Bangkok.
“Omicia is proud to be a supporter of RG and a donor to the annual BeHEARD Science Challenge,” said Selena Larkin, Omicia’s Chief Commercial Officer. “As the premier company dedicated to supporting genomic analysis for cancers and other genetic disorders including rare diseases, we are committed to driving increased visibility and targeted research in the pursuit of cures.”
Commercial and hospital-affiliated clinical labs are using Opal Clinical software to successfully develop and deploy high-throughput next-generation sequencing-based testing services for genetic diseases. Case studies from Children’s National Medical Center and Parabase Genomics will be reviewed in an upcoming webinar on September 17th.