News

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: The Rare Disease Film Festival” will focus on what siblings go through, according to the San Francisco festival’s co-founder,…

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 issues during a recent talk at the New York Genome Center. Minssen directs the Center for Advanced Studies in…

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 the body, a study says. The findings of the study, “Pharmacokinetics and Tissue Distribution of 3,4‐Diaminopyridine in Rats,”…

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 who’ve made it to adulthood. Neena Nizar doesn’t have to imagine. The 41-year-old English professor at Metro Community College in Elkhorn,…

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). The research, “Lambert-Eaton Myasthenic Syndrome Secondary to Nivolumab and Ipilimumab in a Patient with…

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 girls, and has the nation’s third-highest rate of uninsured residents — with 13.9% of all Oklahomans lacking health coverage. As if…

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 today tests for all 35 disorders recommended under a federal screening panel, and even in those that come close, rare…

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. The study, “Amifampridine for the Management of Lambert-Eaton Myasthenic Syndrome: A New Take on an Old Drug,”…

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 treatments for the 95% of such illnesses that currently don’t have one. The European Joint Programme on Rare Diseases (EJP…

Merkel cell carcinoma (MCC) should be included in the differential diagnosis of patients with Lambert-Eaton myasthenic syndrome (LEMS) who do not have lung cancer, a case report says. The case study, “Lambert-Eaton Myasthenic Syndrome and Merkel Cell Carcinoma,” was published in Cutis MDedge Dermatology.