Medications
Crohn's disease has no cure, but new treatments bring hope
Anyone newly diagnosed with Crohn's disease likely has a lot of questions—and probably some anxiety—about having a chronic ailment for which there's no cure.
May 8, 2023
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Page 14 - News tagged with genetic syndrome
Diseases, Conditions, Syndromes
Molecular autopsy sheds light on cause of sudden death of a child with COVID-19
Sudden, unexplained child mortality is a tragedy; determining the cause of death is important for improving healthcare and providing loved ones with closure. Now, researchers from Japan have reported the use of an advanced ...
Apr 27, 2023
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Genetics
Researchers show genetic basis of facial changes in Down syndrome
Researchers at the Francis Crick Institute, King's College London and University College London have shed light on the genetics behind changes in the structure and shape of the face and head in a mouse model of Down syndrome.
Apr 26, 2023
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Oncology & Cancer
Exome sequencing identifies those with cancer predisposition syndromes missed by current screening guidelines
Among individuals who consented to whole-exome sequencing and were identified as carriers of predisposition genes for hereditary breast and ovarian cancer (HBOC) or Lynch syndrome, 39.2% would not have qualified for genetic ...
Apr 18, 2023
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Genetics
Novel approach prevents liver damage in animal models of Alagille syndrome
Alagille syndrome, a genetic disease estimated to affect 1 in 30,000 individuals, is caused by mutations in the gene JAG1 in most cases. The mutations affect multiple organs including the liver where it often results in cholestasis, ...
Apr 7, 2023
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Genetics
Genetic tests unexpectedly find genes linked to heart disease—now what?
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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Biomedical technology
First nonhuman primate model of Usher syndrome confirmed
Those with Usher Syndrome—the leading hereditary cause for simultaneous deafness and blindness, for which there is no treatment—may have a new reason for hope now that researchers have confirmed the first-ever nonhuman ...
Feb 11, 2023
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Diseases, Conditions, Syndromes
People with additional X or Y chromosome may be at increased risk for dangerous blood clots
People with an additional X or Y chromosome—a genetic condition known as supernumerary sex chromosome aneuploidy—have an increased risk of developing blood clots known as venous thromboembolism (VTE), a Geisinger study ...
Jan 25, 2023
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Genetics
An education doesn't just make you smarter, it may protect your gut
We've long known education is important for many aspects of life, but now a new benefit has been discovered: It can look after your gut health.
Jan 11, 2023
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Oncology & Cancer
New clinical tool for clonal hematopoiesis identifies patients at high risk for blood cancer
Clonal hematopoiesis (CH) is a recently characterized condition in which the genetic mutations associated with leukemia and other blood cancers are found in the blood of individuals without cancer. This pre-cancerous state ...
Dec 13, 2022
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