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

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…

Six years ago, my husband, Todd, still had use of his weakened right arm and was able to walk, but he had been falling more frequently. After one fall, we had to call my cousin because Todd wasn’t able to get himself off the floor and I didn’t have enough…

Diet is a major factor when it comes to amyotrophic lateral sclerosis (ALS). Quality of diet, proper macronutrient and micronutrient balance, and absorption all require great attention.  At the core, however, is maintaining a healthy body weight, which is essential…

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…

More than 50% of the cases of amyotrophic lateral sclerosis (ALS) disease are linked with a genetic cause, and first-degree relatives of an ALS member — especially daughters of ALS mothers — show the highest risk to inherit it, according to an Irish population-based study. The study “Lifetime Risk…

New research has identified the RPS25 gene as a key player that allows the production of mutated C9orf72 protein — one that is prone to aggregation, or clumps. The gene that codes for this protein is one of the most commonly mutated genes underlying amyotrophic lateral sclerosis (ALS), the…

The U.S. Food and Drug Administration (FDA) has granted orphan drug status to Apic Bio‘s APB-102, an investigational gene therapy aiming to treat familial amyotrophic lateral sclerosis (ALS) associated with mutations in the superoxide dismutase 1 (SOD1) gene. “This orphan drug designation represents an important…

Cognitive problems have limited impact on overall health-related quality of life (QoL) in people with amyotrophic lateral sclerosis (ALS) — but verbal fluency and space orientation are among the factors linked to patients’ emotional well-being, according to new research. The study, “Cognitive deficits have only…

While rehabilitation programs that include exercise are helpful to amyotrophic lateral sclerosis (ALS) patients, no extra benefit was seen by raising the number of weekly sessions from a standard two to five, a small study from Italy reports. The study, “High‐frequency motor rehabilitation in amyotrophic lateral sclerosis: a randomized…

When I was brainstorming ideas for the name of this column, before settling on “Joyful Sorrow,” I asked my husband if he had any ideas. “How about ‘The Caregiver’?” Todd suggested. I dismissed it out of hand. He pushed back. “I think it’s a good name. It’s descriptive and it’s…