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1 month ago | 
huntingtonsdiseasenews.com | Marisa Wexler |Tanita Allen |Patricia Inacio |Aisha I Abdullah
LETI-101, an experimental gene-editing therapy for Huntington’s disease, showed promising proof-of-concept effects in mouse and cell models by reducing levels of the disease-causing mutant huntingtin (HTT) protein, while preserving HTT’s healthy version. In nonhuman primates, the therapy showed good safety and distribution across brain regions profoundly impacted by Huntington’s.
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Sep 4, 2024 | 
rettsyndromenews.com | Patricia Inacio |Marisa Wexler |Aisha I Abdullah
Digestive issues and growth deficits are common and persistent symptoms among classical Rett syndrome patients, according to a long-term study. No correlation was found between the type of mutation in the MECP2 gene, the chief cause of the disease, and the severity of digestive symptoms, which “emphasizes the need for close gastrointestinal and nutritional follow up, regardless of the patient’s specific genetic mutation,” the researchers wrote.
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Apr 29, 2024 | 
pulmonaryhypertensionnews.com | Andrea Lobo |Lindsey Shapiro |Aisha I Abdullah
Two genes were identified as potential drivers of pulmonary arterial hypertension (PAH) in people with HIV-1 infection in a bioinformatics study, offering new perspectives to uncover the underlying molecular mechanisms that link HIV infection and PAH. The genes ISG15 and IFI27 are established hub genes involved in the type I interferon (IFN) response pathway, particularly in monocytes, an immune cell that’s crucial for fighting off infections.
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Apr 10, 2024 | 
rettsyndromenews.com | Patricia Inacio |Ana Pena |Ana Peña |Aisha I Abdullah |Steve Bryson
The probiotic Lactobacillus plantarum PS128 was found to ease involuntary leg muscle contractions, known as dystonia, in Rett syndrome patients, according to a pilot study that tested the supplement’s impact on neurological outcomes. Noting that Rett syndrome “often involves gastrointestinal symptoms and gut microbiota imbalances,” the researchers had sought to assess the use of PS128 probiotic supplements in a clinical trial involving 36 patients with the rare disease.
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Feb 27, 2024 | 
huntingtonsdiseasenews.com | Lindsey Shapiro |Steve Bryson |Aisha I Abdullah |Marta C. Figueiredo
The brain of people with pediatric-onset Huntington’s disease show impaired transport of blood sugar, or glucose, and low levels of a cellular machinery involved in glucose metabolism, a small study showed. Many of these abnormalities were observed in comparisons not only with adults without Huntington’s, but also with people with adult- or juvenile-onset forms of the neurodegenerative disease.
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Dec 27, 2023 | 
smanewstoday.com | Lindsey Shapiro |Marisa Wexler |Aisha I Abdullah
A novel mutation in the ASAH1 gene was identified as the cause of severe fluid buildup with swelling (hydrops fetalis) and cardiac abnormalities in an unborn fetus who later died from the complications in a recent report. ASAH1 mutations are associated with a spectrum of different genetic rare disorders, including spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) and Farber disease.
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Dec 12, 2023 | 
cysticfibrosisnewstoday.com | Jennifer Chamberlain |Kristin Entler |Aisha I Abdullah |Tre LaRosa
Most parents of children with rare diseases spend their lives trying to ensure that their child outlives them. That usually means taking part in fundraising to support the development of new treatments. But even if a child lives long enough to see a therapy come to fruition, this can be followed by a fight to gain access to it. Younger children with cystic fibrosis (CF) in the United States, such as my daughter, Claire, are living in a revolutionary period of treatment of the disease.
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Nov 20, 2023 | 
ankylosingspondylitisnews.com | Margarida Maia |Marisa Wexler MS |Andrea Lobo |Aisha I Abdullah
A man with ankylosing spondylitis (AS) went into disease remission within three months of receiving BCD-180, an experimental antibody designed to deplete a type of immune cell called TRBV9-positive T-cells, a study reports. He also stopped treatment with the TNF inhibitors he had taken continuously for five years, and has remained in complete remission for four years with three intravenous (into-the-vein) doses of BCD-180 a year.
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Nov 13, 2023 | 
ancavasculitisnews.com | Marisa Wexler |Margarida Maia |Mary Chapman |Aisha I Abdullah
The U.S. Food and Drug Administration has approved Sana Biotechnology’s investigational new drug (IND) application requesting a Phase 1 clinical trial of its investigational cell therapy SC291 in people with ANCA-associated vasculitis (AAV) and other autoimmune diseases.
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Nov 1, 2023 | 
porphyrianews.com | Steve Bryson |Aisha I Abdullah |Teresa Carvalho |Lindsey Shapiro
A high financial burden is associated with acute hepatic porphyria (AHP) — one particularly driven by hospitalization and medical costs to manage disease attacks — a new study found. Also adding to the financial burden was time off work due to AHP, which averaged about two months per year for all study participants with active disease.
