Rare Diseases

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NORD® Rare Disease Center of Excellence emblem

UT Southwestern Medical Center’s doctors focus on providing the highest quality care for patients with rare diseases, which can be challenging to diagnose and treat.

We treat rare diseases that can affect any part of the lifespan, from birth through old age, including conditions that can complicate pregnancy. Our team also conducts innovative research to pioneer new treatments for these uncommon diseases.

The National Organization for Rare Disorders (NORD) selected UT Southwestern Medical Center as a Rare Disease Center of Excellence. We are charter members of an elite national network of 31 centers. The goal of the network is to expand access and advance care for rare disease patients and to support research toward treatments and cures.

Comprehensive, Multidisciplinary Care for Rare Diseases

There are about 7,000 known rare diseases, many of which disproportionately affect children, adolescents, and young adults. Although most rare diseases might individually affect only a few hundred to a few thousand people worldwide, collectively they are common, affecting an estimated 25 million to 30 million people in the U.S. alone.

Most of the currently recognized rare diseases are thought to be genetic – caused by changes in genes or chromosomes. In some cases, genetic changes that cause disease are passed from one generation to the next. In other cases, when only a single person in the family is affected, the condition still might be genetic, but often we do not yet know the source of the condition.

UT Southwestern has received numerous national designations for rare disease care, has established high-level initiatives within its hospital and clinics as well as with affiliated institutions, and has ongoing educational and training programs for future generations of caregivers.

Rare Diseases, Exceptional Care

For families living with diseases such as cystic fibrosis and Duchenne muscular dystrophy, finding an expert diagnosis and advanced care can be very challenging. Angela Scheuerle, M.D., and Ralph DeBerardinis, M.D., Ph.D., lead UT Southwestern’s Center of Excellence for Rare Diseases, where genetic research and clinical progress are making a real impact on patients’ lives.

Rare Conditions We Treat

UT Southwestern has special expertise in treating rare diseases including:

Adult rare conditions

Children’s rare conditions

Clinical Trials

As an academic medical center, UT Southwestern is involved in a number of research studies for rare diseases.

Visit Study Finder to search for current clinical trials.

Highlights of recent rare disease research at UT Southwestern include:

1985 Nobel Prize in Physiology or Medicine

Researchers at UTSW have identified more than 25 rare Mendelian disease genes since Nobel Laureates Michael Brown, M.D., and Joseph Goldstein, M.D., discovered in 1983 that mutations in the LDLR gene caused familial hypercholesterolemia, a landmark finding that led to their sharing the 1985 Nobel Prize in Physiology or Medicine and helped launch the development of statins, now used by millions.

Genomic Determinants of Cholesterol Levels

Other benchmark efforts include those by Helen Hobbs, M.D., Director of the Eugene McDermott Center for Human Growth and Development, whose characterization of the genomic determinants of cholesterol levels provided rationale for the development of PCSK9 inhibitors, as well as structural studies of HIF-2 that led to the development of a small molecule inhibitor of this transcription factor.