Vanderbilt researchers have developed a new method to analyze mutations in blood stem cells that can trigger explosive, clonal expansions of abnormal cells.
An international consortium co-led by Vanderbilt’s Rubén Martínez-Barricarte, PhD, has discovered a new genetic disorder that causes immunodeficiency and profound susceptibility to opportunistic infections including a life-threatening fungal pneumonia.
A multidisciplinary team led by Vanderbilt University Medical Center investigator Alexander Bick, MD, PhD, has been awarded a $2 million, four-year grant to study inflammation at the single-cell level in the rare disease RUNX1-FPD.
Vanderbilt’s Katie Lang, MS, CGC, and Samantha (Sam) Stover, MS, CGC, were recently honored at the 2022 Heart of Genetic Counseling Award ceremony.
Similar rates of bilateral mastectomy in women with inherited mutations in high- and moderate-penetrance genes raises concerns about possible overtreatment of some patients, Vanderbilt researchers report.
A team at Vanderbilt University Medical Center will explore computational solutions to help address the problem of missed or delayed diagnosis for patients with rare genetic diseases.