An innovative gene therapy may help treat a severe and fatal developmental epilepsy syndrome that affects children. Researchers hope that this genetic therapy can also be adapted to other types of genetic epilepsies and think ...
Jun 22, 2023
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15 years ago, a woman in her thirties was diagnosed with metastatic kidney cancer. The oncologist José Pablo Maroto, from the Hospital de la Santa Creu i Sant Pau, in Barcelona, decided to treat her with the drug temsirolimus, ...
Jun 14, 2023
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The Department of Neurology at Niigata University has developed a new in silico method for evaluating the pathogenicity of missense variants using AlphaFold2 (MOVA).
Jun 14, 2023
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The research group led by Dr. Chengzhu Zhao (now Associate Professor in Chongqing Medical University) and Associate Professor Makoto Ikeya has discovered that ectopic bones formed in abnormal locations originate from neural ...
Jun 13, 2023
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A new family of DNA elements which control the activation of certain genes known to cause a rare disease known as MSL3 syndrome in children has been identified.
Jun 12, 2023
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The biology underpinning a rare genetic mutation that allows its carrier to live virtually pain-free, heal more rapidly and experience reduced anxiety and fear, has been uncovered by new research from UCL.
May 23, 2023
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Sometimes scientists arrive at new findings and discoveries by chance. That was the case when Thilini Gamage was to carry out one of the studies in her doctoral work with Professor Eirik Frengen at the Institute of Clinical ...
May 16, 2023
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Despite the increasing use of genomic sequencing in clinical practice, interpreting rare genetic mutations, even among well-studied disease genes, remains difficult. Current predictive models are useful for interpreting those ...
Apr 21, 2023
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Scientists may have solved the question of why Ashkenazi Jews are significantly more susceptible to a rare genetic disorder known as Gaucher disease—and the answer may help settle the debate about whether they are less ...
Feb 6, 2023
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A genetic mutation in the SPTSSA gene is identified as the cause of hereditary spastic paraplegia, a rare disease that causes progressive weakness, stiffness and spasticity in the lower extremities, according to a study published ...
Jan 31, 2023
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