Mayo Clinic February 28, 2024
Susan Murphy

From the forefront of medical research to the front lines of patient care, scientists and clinicians at the Mayo Clinic Center for Individualized Medicine are making notable progress in rare disease diagnostics and treatments. Patient by patient, they are dedicated to bringing hope, answers and healing to those who have tirelessly searched for solutions to their conditions.

The pioneers in the field, including Margot Cousin, Ph.D., and Filippo Pinto e Vairo, M.D., Ph.D., are harnessing emerging technologies, individualized therapies and artificial intelligence (AI) to drive meaningful progress for the 300 million people worldwide who have a rare disease.

“It’s a really exciting time for rare disease therapeutics,” says Dr. Cousin, a translational genomics researcher at the Center. “We...

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