In a study published in Neuron, researchers have identified four new genetic risk factors for multiple system atrophy (MSA), shedding light on this poorly understood disorder. The study, which involved collaboration from ...
May 8, 2024
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Researchers at Baylor College of Medicine have tested the feasibility of using human cell transdifferentiation with RNA sequencing to facilitate diagnoses of Mendelian disorders. The approach generated an overall diagnostic ...
Apr 9, 2024
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When pathogens invade the body, the immune system must react immediately to prevent or contain an infection. But how do our defense cells stay ready when no attacker is in sight?
Apr 24, 2024
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Rett syndrome is a rare neurodevelopmental disorder for which there is currently no cure or good therapy. It causes severe physical and cognitive symptoms, including many that overlap with autism spectrum disorder.
May 2, 2024
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A team of University of Saskatchewan (USask) researchers are exploring the role of a newly identified cell type in cystic fibrosis (CF), which could lead to effective new types of treatment.
Apr 29, 2024
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Cockayne syndrome is a severe autosomal recessive disorder caused by defective DNA repair mechanisms. People with the disease have much reduced life expectancy and suffer from facial deformities; growth failure; neurological, ...
Apr 10, 2024
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By discovering how a type of smooth muscle—which is essential for mechanical aspects of absorbing fats from food—forms in the gut, Cornell scientists have opened doors to making artificial muscle, repairing muscle following ...
Apr 17, 2024
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In an article published in Nature, researchers from Karolinska Institutet present an atlas of the early development of the brain. The atlas can be used, among other things, to find out what went wrong in the development of ...
May 2, 2024
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University at Buffalo researchers have found that the active form of a gene promotes a broad range of protective traits. The gene is found in 75% of the population and is known to protect against neurodegeneration. Now, UB ...
Apr 30, 2024
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Metachromatic leukodystrophy is a rare genetic disorder that mainly affects young children and results in severe neurological symptoms accompanied by a loss of motor and intellectual capacities. At Paris Brain Institute, ...
Apr 22, 2024
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