Yale Program Accepted Into NORD Rare Diseases Centers of Excellence Network

Rare diseases are not so rare. While a single rare disease may only affect a small proportion of the population, as many as 10% of Americans live with rare diseases, and most of those 30 million people have limited or no treatments and lack access to expert care. Now, Yale School of Medicine is joining the NORD Rare Disease Centers of Excellence network with a mission to provide better care for patients with large unmet needs. Congenital myasthenia, incontinentia pigmenti, and tyrosemia are just a few of the more than 7,000 known rare diseases. Most of those diseases, which are generally debilitating, have genetic origins. Fewer than 10% are treatable.

The Yale NORD Center of Excellence for Rare Disorders will be a multi-institutional collaboration across Yale School of Medicine, Yale Medicine, and Yale New Haven Hospital that will work tirelessly to optimize the care of individuals and families afflicted with rare diseases while building a strong translational research program for developing novel treatments. The new center will be led by its director Yong-Hui Jiang, MD, PhD, professor of genetics and pediatrics and chief of medical genetics; and co-directors Michele Spencer-Manzon, MD, associate professor of genetics and of pediatrics and associate chief of clinical operations in the Department of Genetics; Pramod Mistry, MD, PhD, professor of medicine (digestive diseases), of pediatrics (gastroenterology), and of cellular & molecular physiology; and Saquib Lakhani, MD, associate professor of pediatrics (critical care medicine).

“Yale has been a global leader in the discovery of genes that underlie innumerable rare diseases. We have made a lot of exciting discoveries over the past 50 years, and our new center will allow us to expand our clinical operations to offer state-of-the-art medical care for individuals and families afflicted with rare diseases” says Jiang. “We are on a path to translate genomic discoveries to improve lives of these patients though innovation in methods of clinical research and discovery of novel genetic therapies.”

“Joining NORD will allow rare disease patients to find us, a place where they can have a medical home with health care professionals who are invested in their care,” says Spencer-Manzon. “We are invested in both providing clinical care in the present and developing a path toward improved health of our patients through our research efforts.”

The designation into the prestigious network recognizes Yale’s past and current contributions to improving lives of individuals afflicted with rare diseases in Connecticut and beyond. The center of excellence will be a one-stop platform to enhance access to care, shorten diagnostic delays, coordinate patient services among providers with multiple specialties, and propel discovery of life-saving transformative treatments, Jiang says. “Joining NORD will allow us to take this base we have and build it upward and outward,” Spencer-Manzon adds.

The program will also focus on training the next generation of clinicians and researchers to be leaders in rare disease. Yale’s center will be one of only two in the New England region. Already, Yale is national destination for several rare diseases.

In working to improve the lives of patients with rare diseases, Jiang and Spencer-Manzon have built connections across numerous departments ranging from cardiology to obstetrics-gynecology. Physicians at Yale Medicine and Yale New Haven Hospital have a wide range of clinical expertise in rare diseases. For example, co-director Mistry founded a nationally recognized clinical program for Gaucher disease.

“Generally rare diseases are very complex to manage because they involve multiple organs,” says Jiang. “Our program will coordinate the strengths and expertise of a range of subspecialties to develop models for optimal care.”

Most rare diseases lack evidence-based treatments because it is hard to generate studies with sufficient sample sizes. Further growing Yale’s connections may be transformative for developing novel therapies. “For a rare disease study, we’re not going to be able to get a study of 100 patients here at Yale because there may not be even 100 patients in the United States,” she explains. “But with all the NORD centers working together, we can pool our resources.”

Breakthroughs in rare diseases also provide insights on how to treat common diseases. A good example is homozygous familial hypercholesterolemia, which affects only one person in a million and leads to a life-threatening form of cholesterol elevation. Research into this disease led to the development of the medication Lipitor (atorvastatin), a cholesterol-lowering drug, which is now one of the most commonly prescribed medications in the world. “So not only are we treating a rare population, but long-term, our work will also provide benefit to the general population,” Spencer-Manzon says.

To Spencer-Manzon, rare disease research is not just a professional passion, but a personal one as well. As a parent with a child with a rare disease, she is looking forward to continuing working to improve the future for her family and others.

“We have worked really hard to build up a center that is supportive and inclusive, and cares about what happens to patients with rare disease,” she says. “I’m really proud of the work that Yale’s done that allowed us to get recognized so that we may continue to do good work going forward.”