The first-of-its-kind national network is aimed at collaborative research and care for people with rare diseases.
Nearly 1 in 10 Americans has been diagnosed with a “rare disease” – a term used to classify a condition that affects fewer than 200,000 people. And while 7,000+ diseases are classified as rare, affecting more than 25-30 million American adults and children, no treatments currently exist for 95% of these diseases.
Healthcare organizations like Cleveland Clinic are striving to reduce the disparity in medical research and care for people with rare diseases. Today, Cleveland Clinic’s Center for Rare Diseases was designated a National Organization for Rare Disorders (NORD) Center of Excellence, becoming one of 40 U.S. academic medical centers selected for a first-of-its-kind national network dedicated to diagnosing, treating and researching rare diseases.
Unlike more common serious illnesses, people living with rare diseases face many challenges in finding a diagnosis and accessing quality care. Cleveland Clinic’s Center for Rare Disease is committed to meeting the needs of people with rare diseases through innovative research and clinical care.
“A unique advantage of our center is that providers work collaboratively,” says Daniel Sullivan, MD, co-director of the Rare Diseases Center and medical director of Internal Medicine and Geriatrics. “We’re all on the same team, with the same mission – to find the best solutions for each individual patient.”
This collaboration extends beyond the doctor’s office and into Cleveland Clinic’s research labs. Some physician-researchers, like Charis Eng, MD, PhD, Chair of the Genomic Medicine Institute and Director of the Center for Personalized Genetic Healthcare, have the unique viewpoint of both researching and treating rare diseases. Dr. Eng specializes in PTEN hamartoma tumor syndrome (PHTS), a rare overgrowth disorder associated with increased rates of cancer and autism spectrum disorder. “I have treated patients with PHTS for over 20 years. The data we’ve collected on these patients has informed our clinical research, which has greatly improved our understanding of the disease. In turn, this has informed national guidelines for diagnostic and treatment practices,” she says.
As a nationally recognized Center of Excellence, Cleveland Clinic is poised to push the rare disease field forward by working with national collaborators to establish and implement new standards of care, and innovate around new treatments, therapies and research.
“Being part of this network provides us the structure to collaborate with other providers, and help more patients, throughout the country,” says Julie Kaplan, MD, medical director of Center for Personalized Genetic Healthcare and co-Director of the Rare Disease Center, “As a group, we’re extremely passionate about providing the best possible care and support – no matter how unique or common the condition.”
Sondra J. and Stephen R. Hardis Endowed Chair in Cancer Genomic Medicine
Researchers led by Dr. Eng conducted the largest-to-date evaluation of germline mutations in children, adolescents and young adults with solid tumors and demonstrated the value of genetics evaluation and genetic testing for this patient population.
Dr. Hwang and a group of external collaborators found that Hispanic/Latino gastric cancer patients exhibit a higher incidence of CDH1 mutations, which may explain some of the observed racial disparities in disease incidence.
Discover how you can help Cleveland Clinic save lives and continue to lead the transformation of healthcare.Give to Cleveland Clinic