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,…
Encouraging new preclinical data on AMT-130, uniQure’s experimental gene therapy candidate for Huntington’s disease, were presented at the 14th Annual Huntington’s disease Therapeutics Conference. The conference was organized by the CHDI Foundation and held in Palm Springs, California, Feb. 25–28. “Findings from our preclinical studies illustrate…
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 developed a miniature device that can measure the length of disease-related DNA regions in less than five minutes. The technology was tested using DNA samples from myotonic dystrophy type 1 and Huntington’s disease patients. The study, “μLAS: Sizing of expanded trinucleotide repeats with femtomolar sensitivity…
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…
tMMJ-002, a cannabis investigational product for the treatment of Huntington’s disease, has been granted Orphan Drug designation by the U.S. Food and Drug Administration, announced its developer MMJ International Holdings. This new status is expected to expedite the clinical development, regulatory review, and potential marketing approval of the therapy, which…
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…
Impairment in emotional recognition — the process of identifying human emotion, most typically from facial expressions, particularly happy ones — seems to be linked with apathy in Huntington’s disease patients, a study showed. The article, “Apathy Associated With Impaired Recognition of Happy Facial Expressions…
In support of ongoing development of a prospective new therapy for Huntington’s disease, the California Institute for Regenerative Medicine (CIRM) has awarded University of California, Irvine (UCI) investigators $6 million in funding. The hope is that the two-year study, which continues development of a human neural stem…
Several small molecules have been identified by the Alborada Drug Discovery Institute as potential inhibitors to help halt the underlying mechanisms that drive the development of neurodegenerative diseases such as Huntington’s and Parkinson’s disease. Silencing phosphatidylinositol 5-phosphate 4 (PI5P4) kinases has been shown to enhance the natural cleaning system of cells, called autophagy,…
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