News and Events

John H. Newman, MD, Professor of Medicine and Co-Principal Investigator of the Vanderbilt Undiagnosed Disease Program since 2014, passed away on February 20 after a several-month illness at the age of 78. A distinguished alumnus of Columbia University College of Physicians and Surgeons (1971), Dr. Newman dedicated his career to Vanderbilt University Medical Center from 1979, serving in numerous pivotal roles, including Chief of Pulmonary Medicine and Chair of Medicine. Renowned for leading groundbreaking research in the genetics of heritable pulmonary arterial hypertension, Dr. Newman's work significantly advanced our understanding of pulmonary vascular diseases. Beyond his scientific contributions, he was a revered mentor, guiding countless individuals across the Vanderbilt community and beyond towards remarkable careers. Known for his warmth, generosity, and mentorship, Dr. Newman's profound impact and presence will be deeply missed, leaving a lasting legacy that continues to inspire.

Before Blake Kirby was born 10 years ago, his mom, Kara Davis, knew from ultrasounds that he was very small and had clubfoot, an abnormality in which one or both feet are twisted out of shape or position. “Other than that, we thought he was going to be OK,” she said. When Blake stopped growing altogether, Davis was induced on March 16, 2013, at 36 weeks gestation. His heart rate dropped during labor, and when he was delivered at 4 pounds, 15 ounces, he was taken to the neonatal intensive care unit for observation. Physicians were also concerned about his appearance, and he failed a newborn hearing screening.

A transformative gift from the Potocsnak family has established the Potocsnak Center for Undiagnosed and Rare Disorders at Vanderbilt University Medical Center. The center will allow VUMC to accelerate research and serve more patients looking for answers and cures to diseases that, in some cases, have been undiagnosed for decades.

Following the success of the Undiagnosed Diseases Network (UDN) at Vanderbilt University Medical Center (VUMC), the medical center is now establishing their own clinical program aimed at solving complex medical mysteries, the Vanderbilt Undiagnosed Diseases Program (VUDP). Launched in April 2021 under the direction of Rizwan Hamid, MD, PhD, the VUDP works alongside the current UDN team to expand access to services to the 1 in 10 patients currently estimated to be affected by a rare and/or undiagnosed disease. Guided by the success of VUMC’s NIH-funded program, the VUDP combines the expertise of both clinical and research specialists, partnering with several multidisciplinary collaborators across VUMC’s campus and providing patients access to VUMC’s state-of-the-art resources and genetic analysis pipelines.

Vanderbilt University Medical Center has been named a National Organization for Rare Disorders (NORD) Center of Excellence, joining 31 medical centers as part of an innovative network seeking to expand access and advance care and research for rare disease patients in the United States.

For many years and dozens of doctor visits, Amy and her older sister have battled an undiagnosed genetic muscle disease. Since adolescence, when they overexert themselves with exercise, their muscles start to break down, leaving them with significant muscle weakness, soreness and twitching, full body fatigue, headaches and nausea.

The detective work for mysterious symptoms can be difficult. Here’s where to start. The relationship between a patient and a health care provider is not normally complicated. A patient has symptoms, visits a physician or nurse practitioner, and leaves with a diagnosis