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September 23, 2019September 23, 2019

Study Reports Rare Case of Tongue Muscle Atrophy in LEMS

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A case report describes a rare event of tongue muscle atrophy (shrinkage) in a 48-year-old man with Lambert-Eaton myasthenic syndrome who also was diagnosed with small-cell lung cancer (SCLC). Following radiotherapy ... 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

Firdapse Active Ingredient 3,4‐DAP Targets Muscles in Rats, Has Long-Lasting Effect, Study Says

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3,4‐diaminopyridine — the active ingredient of the only FDA-approved treatment for adults with Lambert-Eaton myasthenic syndrome (LEMS) — effectively targets muscles in rats and has a long-lasting effect in ... 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 5, 2019August 5, 2019

LEMS Followed Small-cell Lung Cancer Treatment with Opdivo and Yervoy, Case Report Shows

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A new study describes the rare case of a man who developed Lambert-Eaton myasthenic syndrome (LEMS) following treatment with the immunotherapies Opdivo (nivolumab) and Yervoy (ipilimumab) for small-cell lung cancer (SCLC). ... 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

August 1, 2019August 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

July 29, 2019July 29, 2019

Firdapse Oral Therapy Expected to Become LEMS’ Treatment of Choice, Review Says

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Scientists believe Firdapse (amifampridine phosphate) will soon become first-line management therapy for Lambert-Eaton myasthenic syndrome (LEMS), due to its stability, low-dose variability, good tolerability, and effectiveness, a review says. ... Read more

July 19, 2019

European Initiative Targets Diagnosis, Treatment of Rare Diseases

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A new international consortium based in Paris, and funded largely by the 28-member European Union, intends to speed the diagnosis of rare diseases, while also accelerating the development of ... Read more

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