UT Southwestern designated founding Rare Disease Center of Excellence
DALLAS – Nov. 4, 2021 – UT Southwestern Medical Center has been selected as a Rare Disease Center of Excellence – charter members of an elite network of 31 centers nationally to expand access, and advance care and research for rare disease patients in the United States.
Established by the National Organization for Rare Disorders (NORD), the network’s goals foster national collaborations to share knowledge and findings, connect experts and patients across the country, and work to improve the pace of progress in clinical care, treatments, and research.
“UT Southwestern is an exceptional environment, in large part due to our multidisciplinary, team-based approach to care. Departments across our medical center – Pediatrics, Internal Medicine, Neurology, Ophthalmology, Urology, and others – are focused on innovative research and the highest quality care for those with rare disorders,” said John Warner, M.D., Executive Vice President for Health System Affairs. “Close communication between Pediatrics and Internal Medicine translates into exceptional care for our patients, who seamlessly transition from childhood to adulthood with no interruption in clinical management. Our programs in cystic fibrosis, inborn errors of metabolism, neurofibromatosis, congenital heart disease, and von Hippel-Lindau disease are excellent examples.”
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, rare diseases collectively are common, affecting an estimated 25 million to 30 million people in the U.S. alone.
People living with rare diseases face many challenges in finding a diagnosis and quality clinical care. Many of these diseases have a genetic cause, are serious or life-threatening, and are challenging to diagnose and treat. In the U.S., only about 10% of identified rare diseases have an FDA-approved therapy available.
In establishing the Centers of Excellence program, NORD selected clinical centers across the country that provide exceptional rare disease care and that have demonstrated a deep commitment to serving rare disease patients and their families using a holistic, state-of-the-art approach. Centers were evaluated through a competitive application process requiring evidence of expertise across multiple specialties to meet the needs of rare disease patients, and significant contributions to rare disease patient education, physician training, and research.
“This designation will let patients with rare diseases know that they can be cared for here through their lifespans – from birth through old age – and it will attract trainees, clinicians, and researchers to join the UT Southwestern family,” said Angela Scheuerle, M.D., Professor of Pediatrics and Pathology, who led the NORD application effort and will be Director of the Center at UT Southwestern.
“Our participation in the Centers of Excellence network will allow us to participate in harmonized, multicenter clinical trials and in developing new treatment guidelines, which will ultimately help us take the best care of our patients. It also provides a framework for clinical and laboratory research. Rigorous medical science requires an adequate number of participating patients. Having a broad network increases the chance for patients to participate in research projects and increases the useful data available to the researchers,” noted Dr. Scheuerle, a member of the Eugene McDermott Center for Human Growth and Development/Center for Human Genetics.
“UT Southwestern’s designation as a Center of Excellence by NORD is quite an honor. It’s a sign of an institutionwide commitment by clinicians from many different departments to patients with these rare conditions,” said Ralph DeBerardinis, M.D., Ph.D., Chief of Pediatric Genetics and Metabolism, and Professor of Pediatrics in the Children’s Medical Center Research Institute at UT Southwestern (CRI). Dr. DeBerardinis, who is also a member of the Eugene McDermott Center for Human Growth and Development and the Harold C. Simmons Comprehensive Cancer Center at UT Southwestern, directs the Genetic and Metabolic Disease Program at CRI.
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.
UTSW’s rare disease-specific designations or accreditations in clinics span all ages and include:
- Autism and Developmental Disabilities: The Center for Autism and Developmental Disabilities (CADD) has a Certificate of Distinction from the Joint Commission (JACHO)
- Congenital Adrenal Hyperplasia: The CARES Foundation recognizes CMC as a multidisciplinary Comprehensive Care Center
- Epilepsy: The Pediatric Comprehensive Epilepsy Center has a Certificate from the Joint Commission (JACHO)
- Nephrotic Syndrome: Pediatric Nephrology is part of the Nephrotic Syndrome Study Network (NEPTUNE), which is part of the larger rare disease clinical research network
- Neurofibromatosis: The dedicated clinic is part of the Children’s Tumor Foundation affiliate clinic network and the Neurofibromatosis clinical trial consortium
- Neuromuscular diseases: Parent Project for Muscular Dystrophy (PPMD), Cure SMA, and the Charcot-Marie-Tooth (CMT) Association all designate the Pediatric Neuromuscular Clinic as a Center of Excellence
- Primary Ciliary Dyskinesia: The Primary Ciliary Dyskinesia Foundation has provisionally accredited UTSW as a clinical and research network site
- Rett Syndrome: The International Rett Syndrome Foundation recognizes the clinic as a Clinical Center of Excellence
- Hospital-based designations
- CMC’s Newborn Intensive Care Unit (NICU) is part of the Children’s Hospital Consortium
- Texas Scottish Rite Hospital has six designated Centers of Excellence: Clubfoot and Foot Disorders, Hand Conditions, Hip Disorders, Limb Lengthening, Scoliosis and Spine, Sports Medicine
- Across the Lifespan
- Congenital Heart Disease: The Adult Congenital Heart Disease Program at UTSW and CMC is an Adult Congenital Heart Association (ACHA) Adult Congenital Heart Disease (ACHD) Accredited Comprehensive Care Center
- Cystic Fibrosis: The Cystic Fibrosis (CF) Foundation accredits both the Pediatric and Adult Clinics as Care Centers
- Hereditary Hemorrhagic Telangiectasia: Cure HHT (formerly the HHT Foundation International) designates both Pediatric and Adult Clinics as Centers of Excellence
- von Hippel-Lindau: The von Hippel-Lindau (VHL) Alliance recognizes both Pediatric and Adult clinics as designated Clinical Care Centers
- Muscular Dystrophy: Muscular Dystrophy Association (MDA) designates both Pediatric and Adult clinics as Clinical Care Centers
- Internal Medicine/Adult
- Amyloidosis: The Amyloidosis Foundation recognizes the Multidisciplinary Amyloidosis Program (ATTR-CM) as a treatment center
- Hypertrophic Cardiomyopathy: The Hypertrophic Cardiomyopathy Association (ACMA) recognizes this clinic as a Center of Excellence
- Lymphangiomyomatosis: The Lymphangioleiomyomatosis (LAM) Foundation recognizes and approves this clinic
- Multiple System Atrophy: The Multiple System Atrophy (MSA) Coalition recognizes this program as a Center of Excellence. This is one of only two centers in the U.S. so recognized
- Adult Nephrology is part of the Nephrotic Syndrome Study Network (NEPTUNE)
- Neurology has Center of Excellence designations from the Guillain-Barre/CIDP Foundation and the Autoimmune Encephalitis (AE) Alliance
- Pulmonary Fibrosis: The Pulmonary Fibrosis clinic is part of the Pulmonary Fibrosis Foundation Care Center Network
UTSW’s ACGME certified clinical training programs (and annual slots) that focus on rare disease include:
- Medical Genetics and Genomics
Clinical Genetics (2 slots), Medical Biochemical Genetics (New program, 1 slot), Laboratory Genetics and Genomics (1 slot every other year for a 2-year program), Molecular Genetic Pathology (1 slot/year)
- Pediatric Subspecialty Fellowships
Neonatology (12 slots/year), Cardiology (6-9 slots/year), Endocrinology (6 slots/year), Gastroenterology (9 slots/year), Hematology/Oncology (9 slots/year), Nephrology (Variable number of slots/year), Pulmonology (6 slots/year), Rehabilitation (2 slots/year), Rheumatology (3-4 slots/year)
- Other (Internal Medicine, Neurology, OB/GYN, Surgery)
Combined Renal and Solid Organ Transplant (CRSOT) (1 slot/year), Craniofacial Surgery (2 slots/year), Gastrointestinal and Liver Pathology (1 slot/year), Maternal Fetal Medicine (2slots/year), Neuromuscular Medicine (3 slots/year), Neuroradiology (6 slots/year), Neurotology (1 slot every other year), Pediatric Orthopaedics (5 slots/year), Physical Medicine and Rehabilitation (33 slots/year), Pulmonary Disease and Critical Care Medicine (16 slots/year), Rheumatology (8 slots/year), Transplant Hepatology (2 slots/year), Vascular Neurology (3 slots/year)
In addition to the ACGME programs above, UTSW has several clinical fellowships approved by the Texas Medical Board. Those that focus on patients with rare diseases include:
- Anesthesia: Neuro-Anesthesia and Pediatric Cardiothoracic Anesthesiology
- Cardiovascular and Thoracic Surgery: Pediatric Cardiothoracic Surgery
- Internal Medicine: Transplant Nephrology
- Neurology: Autoimmune Neurology and Movement Disorders
- Orthopaedic Surgery: Pediatric Upper Extremity
- Radiology: Pediatric Interventional Radiology and Pediatric Neuroradiology
- Surgery: Kidney and Liver Transplant Surgery
There also are many specialty clinics focused on particular conditions or categories of condition. UTSW students and residency trainees of all levels spend time in these clinics as part of their defined training or as an elective. These programs and their home clinical departments include:
Specific conditions: Beckwith-Wiedemann Syndrome, neurofibromatosis types I and II, sickle cell anemia, cystic fibrosis, hereditary hemorrhagic telangiectasia. muscular dystrophy, primary ciliary dyskinesia, von Hippel-Lindau syndrome, and 22q11.2 deletion syndrome (the multidisciplinary 22q11.2 deletion syndrome clinic is the only one in Texas)
Areas of concentration: Inborn errors of metabolism, Mendelian neurogenetic disorders, childhood renal disorders including a comprehensive pediatric stone center, craniofacial disorders, disorders of sexual development, familial cancer syndromes, Fetal Evaluation and Treatment Alliance (FETAL) center, hypospadias, thrombotic disorders, and urogenital malformations
Specific Conditions: cystic fibrosis, hereditary hemorrhagic telangiectasia, hypertrophic cardiomyopathy, lymphangiomyomatosis, neurofibromatosis types I and II, sickle cell anemia, transthyretin-mediated amyloid cardiomyopathy (ATTR-CM), and von Hippel-Lindau syndrome
Areas of concentration: Adult-onset genetic disorders, adult congenital cardiac disease, bronchiectasis, cardiovascular genetics, interstitial lung disease, lipid metabolism, lipodystrophies, muscular dystrophies, rare forms of pulmonary hypertension, rare GI cancers
Autoimmune neurologic diseases, Fragile X syndrome, neuromuscular disorders
Genetic disorders of the eye
- Mechanisms of Disease and Translational Science (MoDTS)
This graduate track is a unique program designed to serve as a bridge between basic science and clinical training. Ph.D. candidates aligned with the MoDTS track take part in a curriculum that complements core basic science training with mentored clinical experiences to provide a tangible appreciation of human disease. The overall goal of the program is to cultivate the next generation of translational researchers. Many students participating in this track have focused their clinical experiences on rare diseases such as Neurofibromatosis, familial cancer syndromes, and inborn errors of metabolism.
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.
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, and structural studies of HIF-2 that led to the development of a small molecule inhibitor of this transcription factor.
A recent study by the National Institutes of Health’s National Center for Advancing Translational Sciences (NCATS) provides fresh evidence of the potential impact of rare diseases on public health. The findings in the Orphanet Journal of Rare Diseases drew from estimates over five years indicating costs ranging from $4,859 to $18,994 for treating rare disease patients compared with $2,211 for those treated without a rare disease. The NCATS team reported that extrapolating those estimated costs for the approximately 25 million to 30 million individuals with rare diseases in the U.S. results in total yearly direct medical costs of approximately $400 billion, which is similar to the combined annual direct medical costs for cancer, heart failure, and Alzheimer’s disease.
For more information on the NORD Rare Disease Centers of Excellence program and the full list of centers, visit the program website.
Dr. Brown, a Regental Professor, is Director of the Erik Jonsson Center for Research in Molecular Genetics and Human Disease, a Professor of Molecular Genetics and Internal Medicine, and holds The W. A. (Monty) Moncrief Distinguished Chair in Cholesterol and Arteriosclerosis Research and the Paul J. Thomas Chair in Medicine.
Dr. DeBerardinis is a Howard Hughes Medical Institute Investigator and holds the Joel B. Steinberg, M.D. Distinguished Chair in Pediatrics, the Robert L. Moody, Sr. Faculty Scholar award and is a Sowell Family Scholar in Medical Research.
Dr. Goldstein, a Regental Professor, is Chair of Molecular Genetics, Professor of Molecular Genetics and Internal Medicine, and holds the Julie and Louis A. Beecherl, Jr. Distinguished Chair in Biomedical Research and the Paul J. Thomas Chair in Medicine.
Dr. Hobbs is a Professor of Internal Medicine and Molecular Genetics and Howard Hughes Medical Institute Investigator. She holds the Eugene McDermott Distinguished Chair for the Study of Human Growth and Development, the Philip O’Bryan Montgomery, Jr., M.D. Distinguished Chair in Developmental Biology, and the 1995 Dallas Heart Ball Chair in Cardiology Research.
Dr. Warner holds the Jim and Norma Smith Distinguished Chair for Interventional Cardiology and the Nancy and Jeremy Halbreich, Susan and Theodore Strauss Professorship in Cardiology.
About UT Southwestern Medical Center
UT Southwestern, one of the premier academic medical centers in the nation, integrates pioneering biomedical research with exceptional clinical care and education. The institution’s faculty has received six Nobel Prizes, and includes 25 members of the National Academy of Sciences, 16 members of the National Academy of Medicine, and 14 Howard Hughes Medical Institute Investigators. The full-time faculty of more than 2,800 is responsible for groundbreaking medical advances and is committed to translating science-driven research quickly to new clinical treatments. UT Southwestern physicians provide care in about 80 specialties to more than 117,000 hospitalized patients, more than 360,000 emergency room cases, and oversee nearly 3 million outpatient visits a year.