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Genetic sequencing and the speed with which it can help diagnose a child’s disease — in addition to revealing the genes that cause at least half of the 7,000 rare diseases currently known — was the focus of a discussion by three top New York geneticists. The Feb. 28 conference,…

A genetically modified mouse with increased levels of a specific enzyme in the brain, along with a new genetic tool, may help researchers further their understanding of late infantile neuronal ceroid lipofuscinosis (CLN2) and aid in developing future therapies. The study, “Inducible transgenic expression of tripeptidyl peptidase 1…

When it comes to rare diseases, one that definitely makes the list is spinal muscular atrophy with respiratory distress — SMARD,  for short. Hunter Pageau, a 12-year-old boy from North Haven, Connecticut, is one of only 80 people in the world known to have SMARD, a motor neuron disease…

In his 10 months on the job, Commissioner Scott Gottlieb of the U.S. Food and Drug Administration is earning praise for his efforts to make clinical trials for new therapies more flexible and responsive to the needs of rare disease patients. From cystic fibrosis to epidermolysis bullosa, the FDA…

BioMarin recently announced the launch of RARE Scholars, an annual scholarship program for students with certain rare diseases, including Batten disease, who demonstrate strong academic performance, leadership skills, and participation in school and community activities. The program is designed to assist high school seniors, graduates, current postsecondary undergraduates, or…

Soon after the first-ever therapy for Batten disease was approved by the U.S. Food and Drug Administration (FDA) in April 2017, Danielle Kerkovich, principal scientist at the Beyond Batten Disease Foundation, started fielding questions from families wondering if…

At a time of unprecedented polarization in Congress, two U.S. lawmakers — one Republican, one Democrat — are stressing the urgency of working across the aisle to help the estimated 30 million Americans with rare diseases. Rep. Leonard Lance (R-New Jersey) and Sen. Amy Klobuchar (D-Minnesota) spoke to more…

Kristen and Gordon Gray weren’t willing to take no for an answer. When their 5-year-old daughter, Charlotte, was diagnosed with a rare form of Batten disease in 2015, the doctors told them there was nothing they could do. There was no treatment available for Batten disease,…

Taylor King was nearly 8 years old — a runner, who loved pink and wearing dresses — when she was diagnosed with infantile Batten disease in July 2006. By that October, her family had started fundraising for a cure. “At the beginning, there was a huge…

Retrophin and the U.S. subsidiary of Britain’s Horizon Pharma will each donate $3 million over a six-year period to the Rare Disease Institute (RDI) at Children’s National Health System in Washington, D.C., helping it to strengthen care available and expand as a “center of excellence” for rare…