Case Study: Rare Genomics Institute achieves a rare disease diagnosis with Genomenon

Rare Genomics Institute finds a diagnosis in one research paper with Genomenon

The Rare Genomics Institute (RG), a non-profit patient advocacy group, helps families with rare genetic diseases who have exhausted conventional diagnostics and financial resources. Their challenge was finding diagnoses for these extremely rare conditions, which often requires searching through millions of research papers for a single relevant genetic mutation. RG partnered with vendor Genomenon and utilized its Mastermind Genomic Search Engine to meet this need.

Genomenon’s solution used artificial intelligence to connect patient DNA data with over 30 million medical research publications. In one specific case, this allowed an RG geneticist to find a single research paper that matched a patient's data and shared similar symptoms, leading to a diagnosis after all other methods had failed. This result provided the patient's family with a definitive answer, access to a new community, and the potential for more appropriate treatments and specialist care.

Rare Genomics Institute