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

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,…

Excessive energy demands to overcome gravity in nerve cells directed downward — such as those involved in the control of limb movements — may explain why amyotrophic lateral sclerosis (ALS) affects certain motor neurons while leaving others untouched, a study has proposed. As people age, nerve fibers disposed vertically…

“So tell us your story,” we often ask people who come to help with Todd’s care. Those who show particularly deep compassion tend to have their own story of suffering, or they’ve loved and cared for someone who suffered. A stage IV cancer survivor. A disabled parent. A sibling who…

Disarm Therapeutics has announced the publication of two studies that further researchers’ understanding of the structure and function of SARM1, a key protein in cellular degeneration. The new data may aid in the design of therapies for multiple diseases, including amyotrophic lateral sclerosis (ALS). The findings were published in…

Orphazyme announced that it and Worldwide Clinical Trials will continue their collaboration through the long-term extension of a Phase 3 study into arimoclomol, a potential oral treatment for amyotrophic lateral sclerosis (ALS). ORARIALS-01 is a randomized, placebo-controlled and double-blind trial (NCT03491462) underway at 30 centers across North America…

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…

Would it surprise you to learn that I check my cellphone zero times a day? All around me, people are texting, emailing, chatting, and checking social media. Me? Nada. My eyes are forward, watching the world. I’m embracing “the joy of missing out” — a state of mind caused by…

Amyotrophic lateral sclerosis (ALS) progression is associated with higher levels of specific lipids in the spinal cord and changes in their metabolism, a study in a rat model of the disease reports. These findings may represent a defense mechanism against oxidative damage, as well as a potential treatment route for…

A newly developed robotic neck brace may improve quality of life for people with amyotrophic lateral sclerosis (ALS) and allow researchers a more detailed assessment of head and neck movements, as well as disease progression, for people with this condition. The brace was described in a pilot study, titled…

People with rapid weight loss in the earlier stages of amyotophic lateral sclerosis (ALS) — before invasive ventilation is needed to support breathing — are more likely to have a poorer prognosis in its later stages than those who don’t, a study reports. The study, “Body weight variation predicts…