January 9, 2018 –

AI Identifies Key Genetic Markers for Rare Metabolic Syndromes

We're proud to announce a new partnership with Rhythm Pharmaceuticals that will accelerate drug discovery for rare genetic obesity disorders.

Biopharmaceutical company Rhythm Pharmaceuticals will work with our AI and Deep Learning team to examine genetic big data and identify the variants associated with rare metabolic syndromes. Rhythm will then apply those findings to develop more effective treatments for patients with those variants.


The partnership began by mining our vast genomic knowledgebase containing all major reference datasets. We combed this data 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.

Our advanced artificial intelligence (AI) laboratory then applied our proprietary DeepCODE 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 identify patients whose obesity is genetic. The patient might then be a candidate for treatments that target the MC4R pathway.


“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.”

“This is a pathbreaking demonstration of how AI can advance drug development and we are thrilled to be partnering with Rhythm to put our capabilities to work to meet such an important unmet medical need,” said Hannes Smarason, CEO of WuXi NextCODE.

“We are also very excited to take the next steps in this partnership, and are applying the breadth of our capabilities, from large-scale cohort validation to functional assays, to help advance Rhythm’s clinical development programs. This is important work in the context of rare disease more broadly and we are proud to be a part of it.”

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