Alport Syndrome News

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New Post: Unpacking a New Reality in the Silence https://buff.ly/33WgUVE
10/24/2019

New Post: Unpacking a New Reality in the Silence https://buff.ly/33WgUVE

Columnist Joe MacDonald remembers wrestling with the unknown in the silence surrounding a first visit to a doctor after his son's birth.

New Post: X-linked Alport Syndrome Explains Blood in Urine of Man with Rheumatoid Arthritis, Study Reports https://buff....
07/29/2019

New Post: X-linked Alport Syndrome Explains Blood in Urine of Man with Rheumatoid Arthritis, Study Reports https://buff.ly/2LMopcM

A case study details a 44-year-old man with rheumatoid arthritis, subsequently diagnosed with X-linked Alport syndrome and a COL4A5 gene mutation.

New Post: Rare Genetic Mutation Leads to Severe X-linked Alport Syndrome in 10-year-old Boy, Case Study Finds https://bu...
07/22/2019

New Post: Rare Genetic Mutation Leads to Severe X-linked Alport Syndrome in 10-year-old Boy, Case Study Finds https://buff.ly/2K9oDrl

A rare non-inherited mutation in the COL4A5 gene in a young boy led to severe X-linked Alport syndrome, according to a case report.

New Post: European Initiative Targets Diagnosis, Treatment of Rare Diseases https://buff.ly/2Y1Ea11
07/19/2019

New Post: European Initiative Targets Diagnosis, Treatment of Rare Diseases https://buff.ly/2Y1Ea11

Learn more about the EU's €101 million initiative to speed the diagnosis of rare diseases and accelerate development of therapies in 35 countries.

New Post: Review Provides Insight into Alport Patient and Research Communities https://buff.ly/2GeK1dj
07/15/2019

New Post: Review Provides Insight into Alport Patient and Research Communities https://buff.ly/2GeK1dj

A review offers news of clinical and therapeutic advances in Alport syndrome from an international gathering of patients, clinicians, and experts.

New Post: Macedonian Gaucher Activist Publicizes Plight of Rare Disease Patients https://buff.ly/32fH3il
07/10/2019

New Post: Macedonian Gaucher Activist Publicizes Plight of Rare Disease Patients https://buff.ly/32fH3il

North Macedonia's rare disease community has made major progress in funding and awareness in the past decade by reaching out to journalists.

New Post: New COL4A5 Mutation Linked to X-linked Alport in Chinese Family https://buff.ly/2S2ewrC
07/08/2019

New Post: New COL4A5 Mutation Linked to X-linked Alport in Chinese Family https://buff.ly/2S2ewrC

Chinese researchers have identified a new COL4A5 mutation that was associated with atypical renal manifestations in a boy with X-linked Alport syndrome.

New Post: World’s First Alport Stamp Is Macedonian Mom’s Latest Win for Rare Disease Patients https://buff.ly/2Jl2vJT
07/03/2019

New Post: World’s First Alport Stamp Is Macedonian Mom’s Latest Win for Rare Disease Patients https://buff.ly/2Jl2vJT

Parent and rare disease activist Gordana Loleska got her native North Macedonia to issue the world's first Alport syndrome postage stamp.

New Post: Sulfatides May Play Important Role in Early Stages of Alport Syndrome, Mouse Study Says https://buff.ly/2J6amM...
07/02/2019

New Post: Sulfatides May Play Important Role in Early Stages of Alport Syndrome, Mouse Study Says https://buff.ly/2J6amMH

Two molecules called sulfatides, found in the kidneys of a mouse model of Alport syndrome, may play an important role in early disease stages, a study says.

New Post: NORD Honors Industry, Patient Advocates at Rare Impact Awards Gala https://buff.ly/2XAYn1B
06/26/2019

New Post: NORD Honors Industry, Patient Advocates at Rare Impact Awards Gala https://buff.ly/2XAYn1B

Read about the individuals, nonprofit groups and pharmaceutical companies honored June 22 at NORD's Rare Impact Awards gala in Houston.

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