News

September 11, 2019September 11, 2019

ACE Gene Variations Not Linked to Disease Variability or Response to ERT, Study Says

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Natural genetic variations, or polymorphisms, in the ACE gene do not account for the large variability in disease course, or the response to enzyme replacement therapy (ERT) observed among ... Read more

September 4, 2019September 4, 2019

Study Presents Clinical, Genetic Landscape of Pompe Disease

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A new study reports the genetic and clinical characteristics of 113 U.S. children who have Pompe disease, the largest such group that has been uniformly assessed in this manner. ... 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 21, 2019August 22, 2019

Amicus CEO John Crowley Outlines Progress in Pompe, Fabry, Batten Therapies

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Pharmaceutical executives rarely make for a sympathetic Hollywood medical drama. But John Crowley did, and in the nearly 10 years since the release of “Extraordinary Measures” — a tearjerker starring ... Read more

August 20, 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 7, 2019August 7, 2019

ERT for Late-onset Pompe Not Linked to Increased Risk of White Matter Lesions

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Aging and vascular risk factors, not enzyme replacement therapy or the disease itself, may increase the risk of late-onset Pompe disease patients developing white matter lesions in the brain, ... Read more

August 2, 2019August 2, 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

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, 2019August 1, 2019

Wearable Technology Can Help Monitor Mobility Patterns in Late-Onset Pompe, Study Shows

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Wearable technology that quantifies daily physical activity, such as FitBit One, can help determine mobility patterns and evaluate the clinical status of people with late-onset Pompe disease, a study ... Read more