The UAB NF Program is internationally recognized for its contributions to outstanding clinical care, research, and education related to all forms of neurofibromatosis (NF1, NF2, and schwannomatosis). We are the national coordinating center for the NF Clinical Trials Consortium, funded by the Department of Defense to perform clinical trials for all forms of neurofibromatsis.
UAB Medicine’s Undiagnosed Diseases Program expands with genomics clinic at Children’s of AlabamaThe University of Alabama at Birmingham’s Undiagnosed Diseases Program will expand its services with a new genomics clinic located at Children’s of Alabama. The program, powered by UAB, Children’s of Alabama and the HudsonAlpha Institute for Biotechnology, uses sophisticated DNA sequencing and a multidisciplinary medical team to search for a diagnosis for patients with rare or unusual conditions that have defied diagnosis for years. The program was launched in October 2013.
Some of these conditions may be so rare that only a handful of people in the world have them. Others may be more common, but have symptoms that present in an unusual way, making diagnosis difficult. It is possible the UAB Medicine program will discover genetic conditions that have never been described.
Clinical Services: Our goal is to deliver outstanding care for patients and families through integrated clinical and laboratory services. For some conditions, we are considered a national and international referral source.
Research: We seek to expand knowledge and create new applications through laboratory and clinical research along the continuum from fundamental studies to preclinical investigations, to bench-to bedside translation, to clinical practice and community implementation.