Updates

November 4, 2019November 4, 2019
Eye Deformity Common in Alport Best Captured Using Optical Coherence Tomography, Case Report Finds

A common eye abnormality of Alport syndrome (AS), called anterior lenticonus, can best be diagnosed by a non-invasive method called anterior segment optical coherence tomography (AS-OCT), a ... Read more
October 28, 2019October 28, 2019
Alport Patients Should be Checked for Eye Condition Keratoconus, Case Study Suggests

The eye condition keratoconus — when the cornea thins out and bulges like a cone — can occur in people with Alport syndrome, according ... Read more
October 14, 2019October 14, 2019
Reata Reacquires Rights for Bardoxolone, Other Nrf2 Activators, After Terminating Partnership with AbbVie

Reata Pharmaceuticals has reacquired development, manufacturing, and marketing rights for its proprietary Nrf2 activator products — including bardoxolone methyl (bardoxolone) for the treatment of ... Read more
October 7, 2019October 7, 2019
COL4A5 Mutation Tied to XLAS Does Not Cause Disease, Study Suggests

A given mutation in the COL4A5 gene — the gene involved in X-linked Alport syndrome — is likely not a disease-causing (pathogenic) defect although it has been ... Read more
September 30, 2019September 30, 2019
Eye Abnormalities Detectable in Exam May Help to Diagnose Alport Syndrome, Study Says

A thorough eye examination can help to diagnose Alport syndrome even in the absence of obvious kidney symptoms, a case report suggests. “Alport syndrome ... Read more

Subscribe to our mailing list

Get regular updates delivered to your email box.

Thanks! Please check your email for a confirmation email.

News

NORD 2019 Rare Disease Summit Set for Oct. 21-22 in Washington, DC
September 27, 2019September 27, 2019
Next month’s annual conference of the National Organization for Rare Disorders (NORD) in Washington, ...
News

Alport Patient Shows Improvement After Receiving Kidney from Father Later Found to have ADAS, Study Says
September 23, 2019September 23, 2019
A patient with Alport syndrome (AS) showed clinical improvement years after receiving a transplant ...
News

Pregnancy May Exacerbate Symptoms of Recessive Form of Alport Syndrome, Case Report Shows
September 9, 2019September 9, 2019
Pregnancy may exacerbate the impact of COL4A4 gene mutations in women who have recessive, ...
News

‘Disorder’ Film Festival Offers Look at Siblings Touched by Rare Diseases
September 2, 2019September 2, 2019
Rare diseases deeply affect not only the children who experience them, but also their ...
News

At NY Genome Center, Legal Expert Presents Ethical Dilemmas in Gene Editing
August 28, 2019August 28, 2019
Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is ...
News

New Kidney Cell Model May Be Useful For Understanding Diseases Such as Alport Syndrome, Study Shows
August 26, 2019August 26, 2019
A newly developed model of kidney filtration may help researchers better understand kidney diseases ...

Nebraska’s Neena Nizar Seeks Cure for Jansen’s, One of World’s Rarest Diseases
August 19, 2019
Imagine living your whole life with a painful disease so rare that only 25 ...
2nd Hypertension Treatment Seen to Ease Kidney Fibrosis in Mice, Possibly via Signaling Molecule
August 12, 2019August 12, 2019
An angiotensin receptor blocker approved to treat high blood pressure, called Benicar (olmesartan), may ...
Next-generation Sequencing Better for Genetic Testing of AS, Study Finds
August 5, 2019August 5, 2019
Rare Disease Groups Seek Public Support to Renew Newborn Screening Act in Senate
August 1, 2019
Oklahoma Ranks Lowest on Programs Key to Rare Diseases on NORD’s 2019 State Report Card
August 1, 2019
X-linked Alport Syndrome Explains Blood in Urine of Man with Rheumatoid Arthritis, Study Reports
July 29, 2019July 29, 2019

Rare Genetic Mutation Leads to Severe X-linked Alport Syndrome in 10-year-old Boy, Case Study Finds
July 22, 2019July 22, 2019
A rare type of mutation in the COL4A5 gene in a young boy led to ...
European Initiative Targets Diagnosis, Treatment of Rare Diseases
July 19, 2019
Review Provides Insight into Alport Patient and Research Communities
July 15, 2019July 16, 2019
Macedonian Gaucher Activist Publicizes Plight of Rare Disease Patients
July 10, 2019

New COL4A5 Mutation Linked to X-linked Alport in Chinese Family
July 8, 2019July 8, 2019
A new genetic variant of the COL4A5 gene was identified in the family of ...
World’s First Alport Stamp Is Macedonian Mom’s Latest Win for Rare Disease Patients
July 3, 2019July 3, 2019
Sulfatides May Play Important Role in Early Stages of Alport Syndrome, Mouse Study Says
July 2, 2019July 2, 2019

News

NORD Honors Industry, Patient Advocates at Rare Impact Awards Gala
June 26, 2019June 26, 2019
A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy ...
News

Ongoing Research Testing Several New Therapies for Alport Syndrome
June 24, 2019June 24, 2019
While Alport syndrome currently remains without a cure, ongoing research is testing several strategies ...
News

Eurordis Unveils Integrated-care Initiative for Rare Disease Patients
June 20, 2019
Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to ...
News

‘Rare Barometer’ Program Helps Eurordis Shape EU Rare Disease Policy
June 17, 2019
People with rare diseases know that the right government policies can make a big ...
News

New Mutations, Possible Links to Alport Syndrome Progression Found in Chinese Families, Study Shows
June 17, 2019June 17, 2019
Researchers have found six new mutations underlying Alport syndrome (AS) in seven Chinese families, ...
News

Alport Diagnosed in Woman with Chronic Kidney Disease, Case Report Shows
June 3, 2019June 3, 2019
A 53-year-old woman with worsening kidney function was diagnosed with Alport syndrome after an ...

November 2, 2016

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

Subscribe to our mailing list

Pin It on Pinterest