AI Advances Precision Therapy for Rare Genetic Disorders of Obesity

A pioneering real-world example of how advanced AI can contribute to better medicine, uncovering the roots of rare metabolic syndromes to optimize the impact of new drugs

— Genuity Science”s DeepCODE algorithm identifies impact scores for all rare genetic variants in key metabolic pathway correlated to obesity

— These can be used to create companion diagnostics to identify patients likely to benefit from novel therapeutics targeting this pathway and to streamline clinical trials

Genuity Science (formerly known as WuXi NextCODE) today announced a partnership with Rhythm Pharmaceuticals (NASDAQ: RYTM), a biopharmaceutical company aimed at developing and commercializing therapies for the treatment of rare genetic disorders of obesity, under which Rhythm is applying Genuity Science’s proprietary deep learning capabilities to identify key genetic markers for rare metabolic syndromes. The goal is to use that information to optimize the development of Rhythm’s investigational compounds. Financial terms were not disclosed.

The first phase of the partnership involved mining Genuity Science’s knowledgebase of all major reference datasets to identify all rare sequence variants in the POMC, PCSK1, and LEPR genes in the MC4R pathway. This is a key biological pathway in humans that regulates weight by increasing energy expenditure and reducing appetite. WuXi NextCODE’s advanced artificial intelligence (AI) laboratory then applied its proprietary DeepCODESM¬†algorithm to score the variants for their predictive impact on obesity. Testing people living with obesity for the highest impact variants in these genes may enable the identification of those who may be candidates for treatment with therapies developed to target the MC4R pathway, as well as to a broader understanding of the mechanisms through which this pathway contributes to obesity.

“We are committed to using the most cutting-edge technologies to develop treatment options for patients affected by rare genetic disorders of obesity,” said¬†Lex Van der Ploeg, chief scientific officer of Rhythm. “Data provided by advanced AI can play an important role in our ability to identify patients who might be most appropriate for treatment with our compounds.”