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August 19, 2019

Nebraska’s Neena Nizar Seeks Cure for Jansen’s, One of World’s Rarest Diseases

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Imagine living your whole life with a painful disease so rare that only 25 others worldwide have what you have. And that you’re one of just six such people ... Read more

August 12, 2019August 12, 2019

2nd Hypertension Treatment Seen to Ease Kidney Fibrosis in Mice, Possibly via Signaling Molecule

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An angiotensin receptor blocker approved to treat high blood pressure, called Benicar (olmesartan), may ease kidney scarring in Alport syndrome by altering levels of the signaling molecule transforming growth ... Read more

August 5, 2019August 5, 2019

Next-generation Sequencing Better for Genetic Testing of AS, Study Finds

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Next-generation sequencing (NGS) offers more advantages over conventional Sanger sequencing for the genetic testing of people who might have Alport syndrome (AS), a study has found. Both have a ... Read more

August 1, 2019

Rare Disease Groups Seek Public Support to Renew Newborn Screening Act in Senate

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Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in the United States. No state ... Read more

August 1, 2019

Oklahoma Ranks Lowest on Programs Key to Rare Diseases on NORD’s 2019 State Report Card

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Oklahoma suffers more tornadoes than any other state, has the highest per-capita rate of women in U.S. prisons, ranks second in the number of teen births per 100,000 teenage ... Read more

July 29, 2019July 29, 2019

X-linked Alport Syndrome Explains Blood in Urine of Man with Rheumatoid Arthritis, Study Reports

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Genetic tests led to the diagnosis of X-linked Alport syndrome in a man with rheumatoid arthritis (RA), explaining the finding of small amounts of blood in his urine, according ... Read more

July 22, 2019July 22, 2019

Rare Genetic Mutation Leads to Severe X-linked Alport Syndrome in 10-year-old Boy, Case Study Finds

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A rare type of mutation in the COL4A5 gene in a young boy led to severe X-linked Alport syndrome, according to a case report. The report, “Somatic Mosaicism in a ... Read more

July 19, 2019

European Initiative Targets Diagnosis, Treatment of Rare Diseases

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A new international consortium based in Paris, and funded largely by the 28-member European Union, intends to speed the diagnosis of rare diseases, while also accelerating the development of ... Read more

July 15, 2019July 16, 2019

Review Provides Insight into Alport Patient and Research Communities

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The care of Alport syndrome patients at specific critical junctions — diagnosis, transition to adult care, and pregnancy — is among the topics of a recently published review ... Read more

July 10, 2019

Macedonian Gaucher Activist Publicizes Plight of Rare Disease Patients

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The challenges Vesna Aleksovska faced when she decided a decade ago to help fellow Macedonians with rare diseases were so daunting, they would have scared off all but the ... Read more

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