Vienna to Host RARE2019 Meeting on Rare Diseases
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 ... Read more
Updates
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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 aim to raise awareness about rare diseases and the millions ... Read more -
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, and G40.419 covers generalized and treatment-resistant epilepsies, which groups like ... Read more -
New Mice Model Mimics Features of Human XLAS
A new mice model carrying a COL4A5 gene mutation that mimics many of the clinical features of human X-linked Alport syndrome was developed by ... Read more
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FDA Revising ‘Draft Guidance’ on Developing Treatments for Rare Diseases
The U.S. Food and Drug Administration(FDA) is updating its 2015 draft guidelines for drug ... -
Potential Alport Biomarkers, Treatment Targets Identified in Stem Cell Analysis
Using stem cells derived from Alport syndrome (AS) patients to examine their genetic and protein ... -
Co-occurrence of aHUS, TMA, and Alport Syndrome Suggest Shared Mechanism, Case Report Says
Abnormal activation of the immune system’s complement pathway — a common response to fight ... -
In XLAS, COL4A5 Mutations Determine Progression of Hearing Loss, Study Finds
Hearing loss in male patients with X-linked Alport syndrome (XLAS) is caused by sensorineural ... -
Genetic Testing More Reliable than Hematuria to Determine Alport’s Mode of Inheritance, Case Reports Show
Genetic testing, not hematuria (blood in urine), is the more accurate method to diagnose Alport syndrome and ... -
Rising Healthcare Costs Strain EU Budgets Even as New Therapies Flourish
Cash-strapped governments across the 28-member European Union are struggling to control runaway healthcare expenditures ...
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