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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

August 12, 2019August 12, 2019

2nd Hypertension Treatment Seen to Ease Kidney Fibrosis in Mice, Possibly via Signaling Molecule

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An angiotensin receptor blocker approved to treat high blood pressure, called Benicar (olmesartan), may ease kidney scarring in Alport syndrome by altering levels of the signaling molecule transforming growth ... Read more

August 5, 2019August 5, 2019

Next-generation Sequencing Better for Genetic Testing of AS, Study Finds

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Next-generation sequencing (NGS) offers more advantages over conventional Sanger sequencing for the genetic testing of people who might have Alport syndrome (AS), a study has found. Both have a ... Read more

August 1, 2019

Rare Disease Groups Seek Public Support to Renew Newborn Screening Act in Senate

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Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in the United States. No state ... Read more

August 1, 2019

Oklahoma Ranks Lowest on Programs Key to Rare Diseases on NORD’s 2019 State Report Card

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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 teen births per 100,000 teenage ... Read more

July 29, 2019July 29, 2019

X-linked Alport Syndrome Explains Blood in Urine of Man with Rheumatoid Arthritis, Study Reports

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Genetic tests led to the diagnosis of X-linked Alport syndrome in a man with rheumatoid arthritis (RA), explaining the finding of small amounts of blood in his urine, according ... Read more

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