Advocates from Kidney Organizations Gather for Summit in D.C.
Some 100 advocates from kidney organizations around the country converged on Capitol Hill recently to press lawmakers to improve patient outcomes for the 30 ... Read more
Updates
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Brexit Could Have Real Effects for UK Rare Disease Patients, Experts Warn
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 ... Read more -
Moral Dilemmas Complicate Treatment of Rare Diseases, Says Israeli Bioethicist
With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases ... Read more -
NIH Rare Disease Day Highlights Joint Networks Advancing Array of Research
Rare diseases affect about 30 million Americans — roughly the same number as those with type 2 diabetes. Yet only 5 percent of the ... Read more -
Children with Alport Show Macular Thinning and Other Eye Changes, Study Reports
Children with Alport syndrome showed significant thinning of the macula, the central part of the retina, among other eye changes, according to a study. ... Read more
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WODC 2019 Organizers Expect 1,200 to Attend Rare Disease Conference in April
The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government ... -
Gene Therapy Aiming to Restore COL4 Protein Not Likely to Succeed, Study in Mice Reports
Targeted gene therapy on cells that line the blood vessels — called endothelial cells ... -
Vienna to Host RARE2019 Meeting on Rare Diseases
About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city ... -
Patients, Family and Friends to Take Part in Variety of Rare Disease Day Events Worldwide
Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities ... -
ICD-10 Codes, ‘Really Important’ to Rare Disease Patients, Soon Up for Fresh Consideration
G71.01 is, literally, the code for Duchenne muscular dystrophy. Q93.51 stands for Angelman syndrome, ...
Variants in Certain Gene Might Increase Alport Syndrome Severity in Females
News
Variants in the COL4A3 gene may account for Alport syndrome disease severity in female patients, according to a new study. The study, “Female X-Linked Alport Syndrome With Somatic Mosaicism,” was published in the journal Clinical Experimental Nephrology. Alport syndrome is ... Read more