Science Saturday: Mayo joins network to advance care for people coping with mysterious illnesses

Individualized Medicine

Science Saturday: Mayo joins network to advance care for people coping with mysterious illnesses

By
Susan Murphy

November 6, 2021

Mayo Clinic has joined a new Rare Disease Centers of Excellence network, which consists of a select group of 31 medical centers across the U.S. This network, which is led by the National Organization for Rare Disorders (NORD), seeks to:

Promote knowledge sharing between experts across the U.S.
Connect patients to appropriate specialists, regardless of disease or geography.
Improve the pace of progress in rare disease diagnosis, treatment and research.

The collaboration builds on Mayo Clinic's decades of work to provide diagnoses, treatment and care for patients with rare diseases. Mayo Clinic's team of clinicians and researchers used sophisticated genomic sequencing, and research, to investigate more than 700 undiagnosed rare disease cases in 2020. The team provided answers about the root genetic cause of disease to nearly 30% of patients.

Dusica Babovic-Vuksanovic, M.D., a clinical genomicist with Mayo Clinic's Department of Clinical Genomics, says diagnosing a rare disease is an important first step for a treatment or cure.

"Our clinicians have described rare diseases, including Stickler syndrome and Michels syndrome, and have developed new therapies for rare disease," says Dr. Babovic-Vuksanovic. "We have multiple clinics and programs of excellence throughout the institution, and this designation as a Rare Disease Center of Excellence network will further enhance our ability to make a difference for patients with rare conditions through networking with other centers in collaborative research, delivering state-of-the-art clinical care and developing guidelines for management of rare disease."

Konstantinos Lazaridis, M.D., the Carlson and Nelson Endowed Executive Director for Mayo Clinic's Center for Individualized Medicine, says Mayo Clinic is in a unique position to improve diagnoses and fuel new discoveries to enhance the care of patients with rare diseases.

"Rare diseases come in different categories. Rare diseases could be undiagnosed or diagnosed, single gene-mendelian disorders, or genetically complex diseases as the result of a gene crossed with environmental interactions," explains Dr. Lazaridis. "Mayo Clinic, through the collaborative efforts of the Department of Clinical Genomics and the Center for Individualized Medicine, is uniquely poised to address the needs of patients with rare disease. This new collaboration with the Rare Disease Centers of Excellence Network will be key to expanding our knowledge, and giving hope to patients and families who are desperate for a diagnosis or a better therapy for a rare disease."

Many patients with rare diseases search for answers for eight to 10 years on average, propelled through a marathon of health care provider visits and tests. Collectively, rare diseases are relatively common. As many as 30 million people in the U.S. have a rare disease.