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Mar. 15, 2017

TOPIC: Advocacy, Featured News, Medical

Cynthia Tifft, M.D., Ph.D – 2017 Rare Impact Award Honoree

Posted by Amanda DeBellis

Rare Impact Award

Cynthia Tifft

Cynthia Tifft, M.D., Ph.D.

Dr. Cynthia Tifft is working to solve some of the nation’s toughest medical mysteries.  As the Director of the Pediatric Undiagnosed Diseases Program at the National Institutes of Health,  she and her team strive to meet the unmet needs of children who have not able to achieve a diagnosis after years and years of looking.  She is also the Deputy Clinical Director of the National Human Genome Research Institute, which aims to find new and better ways to help patients affected by genetic disorders through programs of research and education.  

“It is an honor and privilege to care for patients,” says Dr. Tifft.  “The undiagnosed are the homeless in the rare disease community, and we are the ones that provide temporary shelter.”

In Dr. Tifft’s other life, she dedicates herself to a group of rare disorders known as the gangliosidoses. Because these devastating neurological diseases have no treatment, 25 years ago she set about to learn everything she could about them, defining their natural history and becoming the world expert. She has used her research training to develop gene therapy and test it in animals, and is now poised to initiate human trials, which could become the first human gene therapy trial for a condition that has no therapy and is uniformly fatal.  

Dr. Tifft knew from a very young age that she wanted going to go to medical school. Her first encounter with rare diseases came as an undergraduate at the University of California, San Diego, when she volunteered with a geneticist to do outreach clinics.  Meeting these patients presented “a combination of very interesting science and needy patients who did not have advocates,” she recalls.  “The bigger diseases always seemed to have to have a group or specialist.  Rare diseases did not have that.”

Inspired, Dr. Tifft decided to enter the field, thus marking the beginning of her decades of work advocating for rare disease patients. At the time, human genetics was a relatively new field and many saw genetic disorders as untreatable.  Yet today, because of her rigorous scientific approach to clinical research, Dr. Tifft is changing the world’s understanding of lysosomal storage diseases and is helping to improve earlier detection.

Dr. Tifft continues with the goal to “just get one shot at a cure for these kids,” adding, “we haven’t just given them a home by diagnosing them, we have given them a little bit of hope for therapy. If you can offer any bit of hope to families, you do it.”

In addition to her professional responsibilities, Tifft volunteers for the National Tay-Sachs and Allied Diseases Association (NTSAD) as a member of its Scientific and Medical Advisory Committee. She has attended the group’s annual conferences, shares her cell phone number with patients, and is truly immersed in the daily struggles and hardships of those who are living with these conditions. “It’s a great grace to be with families in crises,” she says. “That’s what keeps you coming back even when you’re exhausted.”  

Dr. Tifft gives hope to patients and inspires clinicians and researchers to reach beyond their comfort zones to deliver exemplary patient care and groundbreaking research.

NORD is honored to present Dr. Cynthia Tifft with a 2017 Rare Impact Award.

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