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6 days ago | 
hemophilianewstoday.com | Patricia Inacio
A single-center U.S. study found relatively little genetic testing was done for girls with a 50% risk of being a hemophilia carrier — people with the altered gene who don’t have hemophilia themselves but can pass it to their children — over a four-year period in Washington state. Specifically, the testing — followed by genetic counseling — was conducted for about one-quarter of young girls offered such services at Seattle Children’s Hospital, according to the findings of the retrospective study.
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1 week ago | 
hemophilianewstoday.com | Patricia Inacio
Children with severe hemophilia A with blood group O are not at increased risk of developing neutralizing antibodies against factor VIII (FVIII) replacement therapy, a study found. The study, “Blood Group O Does Not Increase the Risk of Inhibitors in Severe Haemophilia A: Data from the PedNet Study Group,” was published in Haemophilia.
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2 weeks ago | 
musculardystrophynews.com | Patricia Inacio
People with myotonic dystrophy (DM) use more healthcare resources and face higher associated costs than patients without the disease, according to a U.S. study that analyzed a large database of insurance claims. After diagnosis, DM patients are more likely to be hospitalized and visit an emergency department, researchers found. Factors contributing to higher care costs include the need for gait aids or respiratory support devices.
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4 weeks ago | 
parkinsonsnewstoday.com | Margarida Maia |Patricia Inacio |Doc Irish |Andrea Lobo
The Van Andel Institute (VAI) — founded nearly three decades ago to advance biomedical research and science education — is awarding its 2025 Jay Van Andel Award to a University of Pittsburgh professor for his work on environmental factors in Parkinson’s disease. This year’s award will be presented to J. Timothy Greenamyre, MD, PhD, a neurologist and researcher who also serves as the director of the Pittsburgh Institute of Neurodegenerative Diseases.
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4 weeks ago | 
ancavasculitisnews.com | Margarida Maia |Marisa Wexler |Patricia Inacio
Elevated levels in the blood of ferritin, a protein that binds to iron and stores it for use by the body, are linked to more severe damage in people with active ANCA-associated vasculitis (AAV), and to a poorer outlook for the kidneys, according to a new study from China. An analysis by researchers showed that a “high [blood ferritin] level was a risk factor for [end-stage renal (kidney) disease] and death,” the team wrote.
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4 weeks ago | 
alsnewstoday.com | Steve Bryson |Patricia Inacio |Esteban Cerezo |Lindsey Shapiro
An experimental candidate by Ractigen Therapeutics to treat amyotrophic lateral sclerosis (ALS) linked to mutations in the SOD1 gene has shown promising signs of slowed functional decline and stable or improved breathing in ALS patients of a small early trial. The therapy, RAG-17, also significantly reduced blood levels of neurofilament light chain (NfL), a biomarker of nerve damage, and demonstrated target engagement, as indicated by a drop in SOD1 protein levels.
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1 month ago | 
cushingsdiseasenews.com | Noura Costany |Andrea Lobo |Patricia Inacio |Catarina Silva
I’ve been open about my current journey with in vitro fertilization (IVF). A few months ago, my husband and I went through the first part of it, freezing our embryos, and now we’re at the beginning stages of an embryo transfer. I, somewhat naively, thought that was going to be the easiest part, and we’d just skate through it. Unfortunately, I was wrong. My husband and I decided to go through IVF because I have Cushing’s disease and polycystic ovary syndrome (PCOS).
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1 month ago | 
myastheniagravisnews.com | Shawna Barnes |Patricia Inacio |Allen Francis
“I’m watching you, Wazowski. Always watching.”If you’re a cartoon fiend like I am, you likely recognize that quote from “Monsters, Inc.,” said by Roz, an administrator. Roz has a gravelly, smoky rasp of a voice. I’ve used this character as an example of what I sound like when my vocal cords have decided they’ve had enough. While attending my cousin’s wedding recently, I finally had an epiphany of how to describe what it feels like — not just what I sound like.
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1 month ago | 
multiplesclerosisnewstoday.com | Leigh Nelson |Patricia Inacio |Lindsey Shapiro
In recent months, I’ve attended a couple events in large stadiums. Last December, I went to the Music City Bowl college football game in Nashville, Tennessee, where Mizzou (the University of Missouri) beat the Iowa Hawkeyes. I also saw a Justin Timberlake concert at the T-Mobile Center in Kansas City, Missouri. Both events were great experiences for my family — except for my fear of falling.
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1 month ago | 
parkinsonsnewstoday.com | Andrea Lobo |Lindsey Shapiro |Mary Chapman |Patricia Inacio
Treatment for up to three years with Onapgo (apomorphine hydrochloride) — approved in the U.S. earlier this year as an add-on therapy for advanced Parkinson’s disease — significantly and sustainably reduced off time, when symptoms are not fully controlled, in adults with the neurodegenerative condition. Importantly, the researchers noted, reductions in off periods were matched by improvements in good on time, when symptoms are well controlled, among patients taking part in a clinical study.
