Human Genetics

Significant Accomplishments

Advance in Genomic Analyses

Lisa Martin, PhD, Co-Director of the Cincinnati Genomic Control Cohort, recently published a methods paper entitled “Variant Impact on Linkage Effect Test.” This paper is a major contribution to the field because it identifies a method for overcoming a critical mismatch in the way linkage results are followed up. Given that linkage and association are expected to overlap only in Mendelian conditions, using such an approach for complex traits may impede our ability to detect disease causing variants.

Progress in Pulmonary Hypertension

William Nichols, PhD, has established the NHLBI-funded National Biological Sample and Data Repository for Pulmonary Arterial Hypertension. Since receiving its first samples in October 2012, biological samples have been collected from more than 600 patients from 24 enrollment centers across the US with a five-year goal of building the cohort to 3,000 patients. Biological samples, clinical data, and genetic data on WHO Group 1 PAH patients will be distributed to researchers worldwide to enhance genetic and other studies of this devastating disease.

Genetics Counseling Program Earns High Rating

The Genetic Counseling Graduate Program (GCP) received an A rating of excellence from the UC Graduate School Review. Reviewers said the program has "achieved national reputation and might be expected to develop as a center of excellence." The GCP also was reaccredited this year by the Accreditation Council for Genetic Counseling for the maximum amount of eight years. Melanie Myers, PhD, Director, and Carrie Atzinger, MS, CGC, Associate Director, also successfully transitioned the program from quarters to semesters. Close monitoring and frequent meetings with advisors resulted in students meeting academic requirements and finishing research projects on time, despite six weeks less time than previous classes.