DBHi Presents: Informatics Talks - Challenging the Assumptions of Polygenic Risk Scores

Speaker

Laura Almasy, PhD

Professor of Genetics

Perelman School of Medicine

About the Topic

It has become clear that many common, complex human traits are polygenic, influenced by hundreds or thousands of genetic variants each of relatively small effect. Polygenic risk scores are a means of summing up the aggregate effects of these variants. Polygenic scores have provided insight into the genetic architecture of complex traits and the correlations between traits and it has been proposed that they will soon be used in clinical practice. This talk will discuss work in the Almasy lab looking at consistency of polygenic scores generated from different studies and potential confounding of polygenic scores with environmental measures.

About the Speaker

Dr. Almasy is part of the Lifespan Brain Institute and DBHi at the Children’s Hospital of Philadelphia. Dr. Almasy is a leading statistical geneticist, known for her contribution to the development and application of statistical methods for the localization and identification of genetic effects on common, complex diseases and related quantitative traits. Dr. Almasy directs the Genetic Analysis Workshop, an international forum for development and testing of statistical genetic methods and has made a major contribution to the development of novel statistical genetics methods for family-based analysis. She also applies these state-of-the-art methods to study the genetic basis of a wide range of complex diseases, from cardiovascular disease and metabolic disorders to neuropsychiatric illness, including schizophrenia and alcohol dependence, as well as to normal variation in brain structure and function. Dr. Almasy brings an important expertise in integrative analysis of genotype, sequence and phenotype data in extended families.

About the Speaker Series

DBHi recognizes the importance of learning from professionals in their area of expertise. Informatics Talk is a monthly speaker series designed to showcase the informatics innovations being conducted by researchers across the CHOP enterprise.

Upcoming Sessions:

April 20 - Elizabeth Froh, PhD, RN – Center for Pediatric Nursing Research & Evidence-Based Practice
May 18 - Jenna Reece, MD – Pathology & Laboratory Medicine
June 8 - Alicia Alcamo – Critical Care Medicine

Continued Medical Education

CME is available to internal CHOP physicians and Penn faculty only.

Clinical RSS Activity Statements

ACCME Accreditation Statement: Children’s Hospital of Philadelphia is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.
AMA Credit Designation Statement: Children’s Hospital of Philadelphia designates this live activity for a maximum of 1.00 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Disclosure Statement: Laura Almasy, PhD (Speaker), Anthony Luberti, MD (CME Course Director), Donna Vito (Planner), Ariana Downs (Planner), Hannah Bocchinfuso, (Planner), and Amy Gettlin (CME Accreditation Manager) and others as appropriate have no relevant financial relationship with an ineligible company to disclose.