Researchers at University of Tsukuba have elucidated the molecular pathogenesis of multicentric carpotarsal osteolysis (MCTO), a rare hereditary disorder that frequently results in renal failure. Using a mouse model, they demonstrated that MCTO is caused […]
Scientists at St. Jude Children’s Research Hospital have found that they can reverse the effects of HNRNPH2-related neurodevelopmental disorder using antisense oligonucleotides (ASOs) in preclinical models. ASOs are short synthetic nucleic acid strands that target […]
In a new study of women in post-menopause, white women with higher genetic risk of obesity regained weight about two times faster than white women whose genetic risk was lower. Black women in the study […]
Researchers at Lund University in Sweden have carried out the most detailed mapping to date of the epigenome in the cells that regulate the body’s blood sugar levels. The study, published in Nature Metabolism, shows […]
Cystic fibrosis is among the most common, known and studied genetic diseases. It affects over 100,000 people worldwide and reduces life expectancy mainly as it causes lung and respiratory problems. Over the years, scientific research […]
More than two in five U.S. adults have prediabetes, a condition marked by higher-than-normal blood sugar levels that often leads to type 2 diabetes. A new study finds that vitamin D may help delay or […]
Fragile X syndrome (FXS) is an inherited genetic developmental condition that strongly impacts brain development. Despite the syndrome stemming from an altered genetic code for the single protein fragile X messenger ribonucleoprotein (FMRP), its symptoms […]
A novel strategy that combines computational and experimental approaches has allowed researchers at Baylor College of Medicine and the Duncan Neurological Research Institute (Duncan NRI) at Texas Children’s Hospital to distinguish alterations in gene function […]
Most fat stores energy; the body’s brown fat does the opposite. Unlike the white fat that accumulates just under our skin, brown fat burns calories and glucose to generate heat. Formally known as brown adipose […]
SYNGAP1 encephalopathy is a rare genetic disorder for which there is no treatment. It causes epilepsy, intellectual disability, psychomotor delay and, frequently, autism. It arises from mutations in the SYNGAP1 gene, which produces a protein […]
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