![\"Cynthia](\"https:\/\/rarediseases.org\/wp-content\/uploads\/2017\/07\/Cynthia-Tifft.png\")
<\/a><\/p>\nCynthia Tifft, M.D., Ph.D.<\/strong><\/p>\n Dr. Cynthia Tifft is working to solve some of the nation\u2019s toughest medical mysteries. \u00a0As the Director of\u00a0the Pediatric Undiagnosed Diseases Program at the National Institutes of Health,\u00a0 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. \u00a0She 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. \u00a0<\/span><\/p>\n \u201cIt is an honor and privilege to care for patients,\u201d says Dr. Tifft. \u00a0\u201cThe undiagnosed are the homeless in the rare disease community, and we are the ones that provide temporary shelter.\u201d<\/span><\/p>\n In Dr. Tifft\u2019s 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. \u00a0<\/span><\/p>\n 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. \u00a0Meeting these patients presented \u201ca combination of very interesting science and needy patients who did not have advocates,\u201d she recalls. \u00a0\u201cThe bigger diseases always seemed to have to have a group or specialist. \u00a0Rare diseases did not have that.\u201d<\/span><\/p>\n 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. \u00a0Yet today, because of her rigorous scientific approach to clinical research, Dr. Tifft is changing the world\u2019s understanding of lysosomal storage diseases and is helping to improve earlier detection.<\/span><\/p>\n Dr. Tifft continues with the goal to \u201cjust get one shot at a cure for these kids,\u201d adding, \u201cwe haven\u2019t 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.\u201d <\/span><\/p>\n 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\u2019s 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. \u201cIt\u2019s a great grace to be with families in crises,\u201d she says. \u201cThat\u2019s what keeps you coming back even when you\u2019re exhausted.\u201d \u00a0<\/span><\/p>\n 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.<\/span><\/p>\n NORD is honored to present Dr. Cynthia Tifft with a 2017 Rare Impact Award.<\/span><\/p>\n","protected":false},"excerpt":{"rendered":" Rare Impact Award Cynthia Tifft, M.D., Ph.D. Dr. Cynthia Tifft is working to solve some of the nation\u2019s toughest medical mysteries. \u00a0As the Director of\u00a0the Pediatric Undiagnosed Diseases Program at … <\/p>\n