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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 this month. Collin is an expert on the subject. For her University of Bathdissertation, she analyzed Brexit’s long-term impact…
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 to treat them — particularly in an age of scarce economic resources — almost always entail “tragic choices,” warned Avraham Steinberg,…
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 to science have cures or treatments approved by the U.S. Food and Drug Administration (FDA). Raising awareness of those illnesses and highlighting…
Researchers have discovered the genetic mechanisms involved in female inheritance and X chromosome silencing. This process, known as X chromosome inactivation, can potentially be manipulated for the treatment of disorders arising from defects in the X chromosome, including fragile X syndrome and Rett syndrome, a study reports. The…
Proteomic analysis — the characterization of all the proteins present in a cell at a given time — has revealed that a misregulation in the development of neural progenitor cells (NPCs), which eventually give rise to different types of nerve cells, might be implicated in Rett syndrome.
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 already registered to attend the World Orphan Drug Congress (WODC) USA 2019, set to take place at the Gaylord National Harbor…
Rettsyndrome.org is dedicated to funding research in every stage of development and every aspect of Rett syndrome — that’s the main message from a recent webinar hosted by Steve Kaminsky, PhD, the organization’s chief science officer. The webinar, along with other RettEd webcasts, can be found here.
Three-dimensional microbrains built in the lab using stem cells from Rett syndrome patients can become a new model to study the disease, neuroscientists say. This can help identify new therapeutic compounds to treat Rett syndrome and accelerate therapy discovery for other neurodevelopmental disorders. The study, “3-Dimensional Human Cortical Neural…
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 March 4-5 meeting, to take place at the Hilton Am Stadtpark Vienna, features 27 speakers on a variety of disorders…
The first evidence that selective attention — the ability to focus on or select an object in the environment — is compromised by Rett syndrome was presented in new research findings. The article, “Impaired Visual Search in Children with Rett Syndrome,” was published in…
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