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March 14, 2019

Brexit Could Have Real Effects for UK Rare Disease Patients, Experts Warn

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Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of ... Read more

March 12, 2019March 12, 2019

Decisional Capacity of Women With Fragile X Surpasses That of Men, Study Says

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Women with fragile X syndrome surpass men in their decisional capacity for informed consent about participation in clinical trials, a study says. The findings of the study, “Decisional Capacity for ... Read more

March 12, 2019March 11, 2019

Moral Dilemmas Complicate Treatment of Rare Diseases, Says Israeli Bioethicist

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With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases and the expensive therapies needed ... Read more

March 7, 2019March 7, 2019

Current FXTAS Diagnostic Criteria Show Low Accuracy, Study Finds

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Given the genetic variability behind the disease, current clinical diagnostic criteria for fragile X-linked tremor/ataxia syndrome do not accurately detect late-onset ataxia (abnormal, uncoordinated movements), a study suggests. The ... Read more

March 5, 2019March 5, 2019

NIH Rare Disease Day Highlights Joint Networks Advancing Array of Research

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Rare diseases affect about 30 million Americans — roughly the same number as those with type 2 diabetes. Yet only 5 percent of the estimated 7,000 rare diseases known ... Read more

March 5, 2019March 5, 2019

Zynerba Pharmaceuticals Receives U.S. Patent for Cannabidiol Gel ZYN002

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Zynerba Pharmaceuticals’ cannabidiol gel ZYN002 has received a U.S. patent for the treatment of Fragile X syndrome. Issued by the U.S. Patent and Trademark Office under the title “Treatment ... Read more

February 28, 2019February 28, 2019

Understanding of How Females Inherit Traits May Shed Light on Fragile X, Rett Syndromes, Study Says

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New understanding of the genetic mechanisms involved in female inheritance and X chromosome silencing may help shed light on disorders arising from defects in the X chromosome, including fragile ... Read more

February 26, 2019February 25, 2019

WODC 2019 Organizers Expect 1,200 to Attend Rare Disease Conference in April

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The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government officials is planned for April 10–12 in a Washington, D.C., suburb. Some 1,200 people have ... Read more

February 21, 2019February 20, 2019

Vienna to Host RARE2019 Meeting on Rare Diseases

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About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city early next month for the 2nd International Congress on Advanced Treatments in Rare Diseases. The ... Read more

February 19, 2019February 19, 2019

Information, Support May Persuade Parents of FXS Children to Join Trials

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Parents of children with intellectual disability, in particular those affected by fragile X syndrome, may benefit from more information and dedicated support when considering the possibility of participating in ... Read more

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