• By Susan Murphy

Mayo Clinic investigators pursue every clue to solve patients’ rare diseases

March 3, 2021

Patients with rare diseases often spend years looking for an answer. Many of them end up at Mayo Clinic, where researchers at the Program for Rare and Undiagnosed Diseases are determined to find answers for them.


When patients' illnesses are a mystery and their symptoms have defied a diagnosis, they often turn to Mayo Clinic. A team of genomic-oriented clinicians and researchers in the Center for Individualized Medicine are ready to pursue every possible clue to solve these complex cases. 

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.

Rare diseases are chronic, debilitating and even deadly. Over 80% of rare diseases are caused by genetic variations that can strike at any age. This makes them prime candidates for in-depth genetic testing, given technological advances of DNA sequencing.

Collectively, rare diseases are relatively common. As many as 30 million Americans have a rare disease.

Focusing on genetic data to solve mysterious illnesses

"Rare is not rare to us," says Konstantinos Lazaridis, M.D., who directs the Program for Rare and Undiagnosed Diseases in the Center for Individualized Medicine. "Mayo Clinic has over 3,800 researchers who relentlessly pursue discoveries that will deliver hope and better health to people today and for generations to come." 

The Program for Rare and Undiagnosed Diseases, which launched in April 2019, builds on Mayo Clinic's decades of work to provide diagnoses, treatment and care for patients with rare diseases. Using sophisticated genomic and multiomic testing and sequencing, along with worldwide research, the program has successfully unveiled a genetic cause for an undiagnosed patient in more than 25% of cases. 

"For patients who do not receive an initial diagnosis, we never give up," says Filippo Pinto e Vairo, M.D., Ph.D., the program's medical director.

Rare is not rare to us. Mayo Clinic has over 3,800 researchers who relentlessly pursue discoveries that will deliver hope and better health to people today and for generations to come.

Konstantinos Lazaridis, M.D.

Dr. Pinto e Vairo is involved in investigating nearly every patient's rare disease case that comes through the program. It starts when a Mayo provider suspects a patient's confounding symptoms could be caused by a genetic variant.

"First, we develop a test called a multigene panel that analyzes a set of genes at once to look for variations," Dr. Pinto e Vairo explains. "So, for example, if the patient's illness is related to kidney failure, instead of looking at the 20,000 genes, we can start with a focused analysis and look at 300 to 400 genes that are broad in scope but highly expressed in the kidney."

Read the rest of the article on the Individualized Medicine blog.

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