Nebraska’s Neena Nizar Seeks Cure for Jansen’s, One of World’s Rarest Diseases
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 ... Read more
Updates
-
2nd Hypertension Treatment Seen to Ease Kidney Fibrosis in Mice, Possibly via Signaling Molecule
An angiotensin receptor blocker approved to treat high blood pressure, called Benicar (olmesartan), may ease kidney scarring in Alport syndrome by altering levels of ... Read more -
Rare Disease Groups Seek Public Support to Renew Newborn Screening Act in Senate
Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in ... Read more -
Oklahoma Ranks Lowest on Programs Key to Rare Diseases on NORD’s 2019 State Report Card
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 ... Read more
Subscribe to our mailing list
Get regular updates delivered to your email box.
Thanks! Please check your email for a confirmation email.
-
X-linked Alport Syndrome Explains Blood in Urine of Man with Rheumatoid Arthritis, Study Reports
Genetic tests led to the diagnosis of X-linked Alport syndrome in a man with ... -
Rare Genetic Mutation Leads to Severe X-linked Alport Syndrome in 10-year-old Boy, Case Study Finds
A rare type of mutation in the COL4A5 gene in a young boy led to ... -
European Initiative Targets Diagnosis, Treatment of Rare Diseases
A new international consortium based in Paris, and funded largely by the 28-member European ... -
Review Provides Insight into Alport Patient and Research Communities
The care of Alport syndrome patients at specific critical junctions — diagnosis, transition ... -
Macedonian Gaucher Activist Publicizes Plight of Rare Disease Patients
The challenges Vesna Aleksovska faced when she decided a decade ago to help fellow ... -
New COL4A5 Mutation Linked to X-linked Alport in Chinese Family
A new genetic variant of the COL4A5 gene was identified in the family of ...
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