Denise Ney, professor of nutritional sciences, is a rare disease hero. We all know that, but now it’s official. Ney is one of 30 Rare Disease Heroes named by the Office of Orphan Products Development at FDA. This is part of the agency’s sixth international Rare Disease Day. This is an opportunity to reflect on what has been accomplished for rare diseases, while looking forward to the work that has yet to be done.
Ney, a researcher in nutritional sciences, follows over 160 patients with phenylketonuria (PKU). PKU is a genetic disorder caused by deficiency of an enzyme that converts the essential amino acid phenylalanine to tyrosine. To prevent brain damage and cognitive impairment those with PKU must follow a lifelong, low-phenylalanine diet through restriction of their diet and the use of a bitter tasting amino acid formula. She provides education on the importance of nutritional management of PKU, and under the auspices of the Orphan Grants program is conducting clinical studies to establish the acceptability and safety of unique foods made with whey protein for PKU. For more on Ney’s PKU work, see this story in CALS News and this one in Grow.
Profiles of all the Rare Disease Heroes are available here. There’s also a video highlighting “30 Rare Disease Heroes”, which honors 30 individuals and organizations who represent the collaborative efforts of those in the rare disease community in finding treatments for rare diseases.
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