A single genetic test could potentially replace the current two-step approach to diagnosing rare developmental disorders in children. This shift could enable earlier diagnoses for families and save the NHS vital resources.
Mar 28, 2024
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Prolonged use of certain progestogen hormone drugs is associated with an increased risk of developing a type of brain tumor known as an intracranial meningioma, finds a study from France published by The BMJ today.
Mar 27, 2024
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ChatGPT accurately answers questions about genetic syndromes, genetic testing, and counseling, according to a study presented at the Society of Gynecologic Oncology Annual Meeting on Women's Cancer, held from March 16 to ...
Mar 25, 2024
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Individuals with the neurodevelopmental disorder Williams syndrome have a gregarious "cocktail party" personality, while those with the opposite genetic alteration, in contrast, tend to have autistic traits and are prone ...
Feb 28, 2024
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In a recently published study spearheaded by Giovanny Fuentevilla-Álvarez and his team at the National Institute of Cardiology in Mexico, researchers have significantly advanced the diagnostic precision for Marfan syndrome ...
Feb 26, 2024
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A common human gene mutation combination—found in about 5% of the U.K.'s Black population as well as millions of people worldwide with recent African ancestry—has been linked to a number of health conditions and poor ...
Feb 15, 2024
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A new Mayo Clinic systematic review, published in the Journal of Vascular Surgery has shed light on genetically inherited aortic disorders, highlighting the importance of early diagnosis and treatment for those who have inherited ...
Feb 8, 2024
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Researchers at the Francis Crick Institute and UCL have identified a gene that causes heart defects in Down syndrome, a condition that results from an additional copy of chromosome 21.
Jan 24, 2024
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One of the largest studies to date on post-operative outcomes for patients with Down syndrome following total knee replacement and total hip replacement surgeries was recently published by Yale researchers.
Jan 11, 2024
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Doctors report they are seeing what they think is a new syndrome in babies who are exposed to fentanyl while in the womb.
Dec 10, 2023
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