Multiple sclerosis is a complex disease. Recent therapeutic advances focus on disease-modifying therapies - reducing the rate of progression or the frequency of relapse. Most of these therapies help patients with relapsing-recurring MS (RRMS). Unfortunately, patients with secondary or primary progressive MS (SPMS, PPMS) have not benefitted from the same progress.
Several genetic variants are known to influence the risk of multiple sclerosis. Some of these variants are now being investigated as therapeutic targets. However, connecting disease severity or progression to genetic factors in large-scale genetic studies is difficult without detailed clinical history.
Genuity Science's MS clinicogenomic dataset covers a comprehensive discovery cohort enriched for SPMS and PPMS, also including RRMS participants. Detailed clinical and laboratory data help define disease subtype, severity, and rate of progression. Genomic data includes whole genome sequencing at a typical 30x depth along with other -omic and deep phenotypic data from several thousand participants.
Genuity Science partners with drug discovery teams in many disease areas to provide answers to their toughest research questions. Learn more about our approach below and see how deeper, richer datasets can accelerate your research program.
We start by combining population-scale high quality whole genome sequence data with detailed clinical phenotype data to help distinguish signal from noise for a given disease. Distilling candidate targets from initial hits requires several layers of analysis. These analysis phases work like a funnel to narrow down and genomically validate hits. Our experienced team of scientists works with you every step of the way with a goal of delivering candidate targets for your drug development program.
In this webinar, Genuity Science Principal Scientist Anthony Ryan, PhD discusses the importance and value of deep phenotyping when looking for genomic associations to disease.