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October 14, 2019October 14, 2019

Reata Reacquires Rights for Bardoxolone, Other Nrf2 Activators, After Terminating Partnership with AbbVie

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Reata Pharmaceuticals has reacquired development, manufacturing, and marketing rights for its proprietary Nrf2 activator products — including bardoxolone methyl (bardoxolone) for the treatment of Alport syndrome and omaveloxolone for ... Read more

October 7, 2019October 7, 2019

COL4A5 Mutation Tied to XLAS Does Not Cause Disease, Study Suggests

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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 identified as such, a study ... Read more

September 30, 2019September 30, 2019

Eye Abnormalities Detectable in Exam May Help to Diagnose Alport Syndrome, Study Says

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

September 27, 2019September 27, 2019

NORD 2019 Rare Disease Summit Set for Oct. 21-22 in Washington, DC

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Next month’s annual conference of the National Organization for Rare Disorders (NORD) in Washington, D.C., couldn’t come at a better time, says Marshall Summar, MD, chairman of NORD’s board ... Read more

September 23, 2019September 23, 2019

Alport Patient Shows Improvement After Receiving Kidney from Father Later Found to have ADAS, Study Says

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A patient with Alport syndrome (AS) showed clinical improvement years after receiving a transplant of a kidney from his father, even though subsequent genetic analysis found that the patient ... Read more

September 9, 2019September 9, 2019

Pregnancy May Exacerbate Symptoms of Recessive Form of Alport Syndrome, Case Report Shows

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Pregnancy may exacerbate the impact of COL4A4 gene mutations in women who have recessive, or non-symptomatic forms of Alport syndrome, a case report shows. Published in the journal Nephron, ... Read more

September 2, 2019September 2, 2019

‘Disorder’ Film Festival Offers Look at Siblings Touched by Rare Diseases

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Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as their parents can attest. Two entries in November’s “Disorder: ... Read more

August 28, 2019August 28, 2019

At NY Genome Center, Legal Expert Presents Ethical Dilemmas in Gene Editing

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Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is quite another. German legal expert Timo Minssen outlined the potentially explosive ethical landmines surrounding such ... Read more

August 26, 2019August 26, 2019

New Kidney Cell Model May Be Useful For Understanding Diseases Such as Alport Syndrome, Study Shows

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A newly developed model of kidney filtration may help researchers better understand kidney diseases such as Alport syndrome and could also be useful for drug screening efforts, a study ... Read more

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

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