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March 18, 2019March 18, 2019

Advocates from Kidney Organizations Gather for Summit in D.C.

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Some 100 advocates from kidney organizations around the country converged on Capitol Hill recently to press lawmakers to improve patient outcomes for the 30 million people living with kidney ... Read more

March 14, 2019March 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

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 11, 2019March 11, 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 4, 2019March 4, 2019

Children with Alport Show Macular Thinning and Other Eye Changes, Study Reports

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Children with Alport syndrome showed significant thinning of the macula, the central part of the retina, among other eye changes, according to a study. The study, “Increased Subfoveal Choroidal ... Read more

February 25, 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 25, 2019February 25, 2019

Gene Therapy Aiming to Restore COL4 Protein Not Likely to Succeed, Study in Mice Reports

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Targeted gene therapy on cells that line the blood vessels — called endothelial cells — failed to restore production of normal collagen in a mouse model of Alport syndrome, ... Read more

February 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 18, 2019February 18, 2019

Report Identifies New COL4A4 Variant, Highlights Next Generation Sequencing

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A new variant (mutation) of the COL4A4 gene was identified as the cause of autosomal recessive Alport syndrome (ARAS) in a young Chinese woman, according to a case report. ... Read more

February 12, 2019February 12, 2019

Patients, Family and Friends to Take Part in Variety of Rare Disease Day Events Worldwide

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Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions of people — estimates run ... Read more

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