The Manton Center for Orphan Disease Research | Industry Collaborators

Below are the industry collaborators which work with The Manton Center.

Alexion

The Manton Center continues its partnership with Alexion Pharmaceuticals, Inc. Applying Alexion’s genomic and data science capabilities to the GDC’s rich repository of clinical and genomic patient data, can allow for better decoding of rare diseases. By utilizing Clinithink’s CLiX Natural language processing (NLP), we are working together to establish a workflow that allows us to leverage NLP, comb through medical records with incredible speed and filter out key phrases that may describe the patient’s clinical presentation. These phrases are then coded into Human Phenotype Ontology (HPO) terms and combined with Alexion’s artificial intelligence algorithms to process the patient’s genomic data, yielding a prioritized list of suspected genetic variants and diagnoses. By utilizing a subset of Manton Center diagnosed and undiagnosed patients, we hope to further develop and improve this technology to eventually offer more timely diagnoses for our patients. This partnership combines the unique strengths of each of our organizations to answer critical questions posed by puzzling and difficult diseases.

Pfizer, Inspire and Citizen Genetics

The Manton Center has teamed up with Inspire (a health-centered social network), Citizen Genetics, Pfizer, Inc. to investigate potential genetic factors causing lung cancer and immune-related conditions.  By conducting outreach to people within  Inspire’s large online health communities, we were able to   introduce potential participants to The Manton Center. Interested families can participate in a study aimed at understanding genetic drivers of resilience to a wide array of difficult medical conditions.  Together, we will help guide potential drug discovery and development. 
Media Coverage about this project.