With the goal of fostering awareness and identifying strategies to reduce bias within the medical genetics field and to improve health equity, members of the ACMG's Social, Ethical and Legal Issues (SELI) and Diversity, Equity ...
Apr 14, 2023
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Researchers have created the largest atlas of post-zygotic genome mutations in healthy human tissue ever assembled—a scientific advancement that could unlock new avenues for diagnosing and treating genetic disease. It is ...
Apr 13, 2023
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Hereditary angioedema (HAE) is a disease that, due to its rare nature, can pose difficulties for both patients and medical professionals. A new survey of allergists/immunologists from the American College of Allergy, Asthma ...
Apr 5, 2023
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A cornea transplant, or keratoplasty, is an operation to replace part of the cornea with corneal tissue from a donor. The cornea is the transparent, dome-shaped surface of the eye. Light enters the eye through the cornea.
Mar 30, 2023
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A recent study from Texas Children's Hospital and Baylor College of Medicine has expanded the clinical spectrum of a new epileptic disorder called Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech ...
Mar 29, 2023
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Early detection of childhood hearing loss is crucial but also challenging because babies can't tell their parents or doctors exactly what's wrong.
Mar 27, 2023
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Increasing use of genetic testing means people may discover they have a gene variant associated with some types of cardiovascular disease (CVD). A new scientific statement, published today in the American Heart Association ...
Mar 27, 2023
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A booklet developed by cardiovascular and genetics experts and provided to patients with dilated cardiomyopathy (DCM) of unknown cause was effective in increasing screening of relatives at risk for the heart muscle disease, ...
Mar 21, 2023
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Statins are the most commonly used medication in lowering blood cholesterol, prescribed to tens of millions in the Western world. Statins act through inhibition of the enzyme HMG CoA reductase. Nearly 20% of statin users ...
Mar 21, 2023
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Researchers have analyzed image and genomic data from the UK Biobank to find insights into rare diseases of the human eye. These include retinal dystrophies—a group of inherited disorders affecting the retina—which are ...
Mar 9, 2023
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