Skip to main content

U of U Health Designated as Rare Disease Center for Excellence

Rare diseases
Lorenzo Botto, M.D., a professor of pediatrics and a medical geneticist at U of U Health (left), and Nicola Longo, M.D., Ph.D., professor of pediatrics and chief of the Division of Medical Genetics at U of U Health. Photo credit: Charlie Ehlert


University of Utah Health has been designated as a Rare Disease Center for Excellence by the National Organization for Rare Disorders (NORD). The health care system is among 31 medical organizations nationwide joining an innovative effort to expand access and advance care and research for patients with rare diseases in the United States.

The program, according to NORD, seeks to promote knowledge sharing between experts across the country, connect patients to appropriate specialists regardless of disease or geography, and improve the pace of progress in rare disease diagnosis, treatment, and research.

"NORD has a long history of connecting patients who have rare diseases with the best medical specialists," says Nicola Longo, M.D., Ph.D., professor of pediatrics and chief of the Division of Medical Genetics at U of U Health. "Being recognized by NORD for the clinical care we have provided and research we have done for these patients helps establish U of U Health as an institution where individuals with rare diseases have a better chance of getting diagnosed."

Any disease that affects fewer than 200,000 people in the U.S. is considered rare, according to NORD. There are more than 7,000 rare diseases, and estimates suggest that up to 30 million Americans are currently living with rare diseases. More than 90% of these diseases lack an FDA-approved treatment.

"No single specialist has the knowledge of all of these conditions," says Lorenzo Botto, M.D., a professor of pediatrics and a medical geneticist at U of U Health. "That's why we brought together a team of expert clinicians, laboratory specialists, and data scientists. Together, we evaluate some of the most complex cases to understand and diagnose some of these ultra-rare and perhaps new conditions."

U of U Health was selected through a competitive application process that required evidence of staffing with experts across multiple specialties to meet the needs of rare disease patients and make significant contributions to rare disease patient education, physician training, and research. As part of its effort to serve the Mountain West—including Idaho, Wyoming, Montana, and Nevada—U of U Health has established itself as a vital hub for molecular and biochemical genetics as well as a focal point for the development of advanced tools for the detection and diagnosis of rare diseases.

Since 2016, Botto has led the Penelope program, an initiative at U of U Health for children with undiagnosed and rare diseases. A multidisciplinary team of clinicians and researchers thoroughly examines and assesses patients, searching their DNA for variants that lead to disease. The program recently began evaluating adults with rare diseases as well.

The Penelope Program complements other robust rare disease initiatives by the Center for Genomic Medicine, which capitalizes on expertise of medical geneticists from the Department of Pediatrics, ARUP Laboratories, and the Utah Center for Genetic Discovery, renowned for developing innovative genomic analysis tools. Additionally, the Center for Personalized Medicine, a collaboration with Intermountain Healthcare, is meeting a critical need for treatments for rare diseases through research, discovery, and innovative therapies. Together, these efforts have helped patients across the Mountain West with complex cases and have helped establish close connections with the region's communities.

Among the many achievements of U of U Health rare disease research are:

  • The detection of Guanidinoacetate methyltransferase (GAMT) deficiency solely through newborn screening. GAMT deficiency is an inherited condition that affects the body's ability to produce creatine. Without creatine, the body is unable to use and store energy, resulting in severe neurological problems including intellectual disability, limited speech development, recurrent seizures, autistic-like behavior, and involuntary movements. Early diagnosis and treatment can lead to improved health and development in children.
  • The discovery of a mutant gene that causes a rare form of osteoporosis and bone fragility. The condition ultimately can lead to the development of abnormal cells (dysplasia) in skeletal bones. The scientists first detected the disease in a large Utah family and eventually linked it to the gene. The team then worked with researchers in Finland and the Netherlands to confirm and expand these results.

Despite these advances, many rare diseases do not have established standards of care, says Ed Neilan, M.D., Ph.D., Chief Scientific and Medical Officer of NORD. He hopes the addition of U of U Health and other medical centers will help rectify that situation.

"We are proud to announce University of Utah Health as a NORD Rare Disease Center of Excellence," Neilan says, "and look forward to their many further contributions as we collectively seek to improve health equity, care, and research to support all individuals with rare diseases."


University of Utah Health provides leading-edge and compassionate care for a referral area that encompasses 10 percent of the US, including Idaho, Wyoming, Montana, and much of Nevada. A hub for health sciences research and education in the region, U of U Health touts a $428 million research enterprise and trains the majority of Utah's physicians, including more than 1,460 health care providers each year at its Colleges of Health, Nursing, and Pharmacy and Schools of Dentistry and Medicine. With more than 20,000 employees, the system includes 12 community clinics and five hospitals. For 12 straight years, U of U Health has ranked among the top 10 US academic medical centers in the rigorous Vizient Quality and Accountability Study.