Letter from the Director

Our division’s work begins with patients and families who are looking for answers. Some come to us with a known genetic diagnosis and need thoughtful, coordinated care. Others arrive after months or years of uncertainty, with complex symptoms that do not fit neatly into a single diagnosis. In both situations, our goal is the same: to bring the best of clinical genetics, genomic medicine, counseling, and scientific discovery to the care of each patient.

We provide genetic services across a broad range of pediatric and adult conditions, including rare disease, metabolic disorders, newborn screening, neurodevelopmental disorders, congenital anomalies, hearing loss, cardiovascular genetics, skeletal dysplasia, cancer predisposition, prenatal genetics, and inpatient consultation. We also work closely with colleagues across Vanderbilt because genomic medicine now touches nearly every area of health care.

Our work extends beyond traditional genetics clinics. We are building genetics eConsult services to help clinicians across the health system ask genetics questions and use genomic information more effectively in patient care. Our faculty and collaborators are active in research that includes rare disease discovery, genomic diagnostics, newborn screening, pulmonary vascular disease, pulmonary fibrosis, functional genomics, informatics, and precision medicine. The common thread is practical: using genetics and genomics to answer difficult clinical and scientific questions.

One of the defining strengths of our division is our work in undiagnosed and rare diseases. Through the Vanderbilt Undiagnosed Diseases Program and our participation in the NIH Undiagnosed Diseases Network, we evaluate patients with some of the most challenging medical presentations. These cases require careful listening, deep phenotyping, advanced genomic testing, functional studies, data science, and broad collaboration. They also reflect what Vanderbilt does especially well: bringing clinical care and research together to solve problems that no single discipline can solve alone.

Education is also central to our mission. We train medical students, residents, fellows, genetic counseling students, and colleagues across the health system. As one of the major genetics programs in Tennessee and the surrounding region, we also serve as a resource for referring clinicians, hospitals, community partners, and families through clinical care, consultation, education, and collaborative programs.

The field is moving quickly. New tools are making it possible to diagnose conditions and understand disease mechanisms in ways that were not possible even a few years ago. But those tools only matter if they are applied thoughtfully to real patients and real clinical questions. That is the work our division is committed to doing.

Best regards,

Rizwan Hamid, MD, PhD, FAAP, FACMG
Director, Division of Medical Genetics and Genomic Medicine
Dorothy O. Wells Professor of Pediatrics