Genetic tool can identify Asian women at higher risk of breast cancer

A genetic study in Asian women, led by Malaysian scientists in collaboration with Singapore and the University of Cambridge, has revealed that a genetic tool developed to help assess breast cancer risk in European women also works in Asian women. This could help address the rising incidence of breast cancer in Asia. The tool, called a Polygenic Risk Score (PRS), […]

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Genetic data may up diagnostic efficiency for rheumatic disease

(HealthDay)—Converting genotype information into an interpretable probability value for five different inflammatory arthritis-causing diseases could potentially improve the diagnostic efficiency of rheumatic disease, according to a study published in the May 27 issue of Science Translational Medicine. Rachel Knevel, M.D., Ph.D., from Harvard Medical School in Boston, and colleagues developed a Genetic Probability tool (G-PROB) to calculate the probability of […]

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Toddler with rare genetic condition waves to dad through a window every day

Emmie Gizatullin, who’s just two and a half years old, was born with a one in a million genetic condition called Kniest Dysplasia, the rarest form of dwarfism that affects fewer than 150 people worldwide. The toddler, from Colchester, Essex, went into total isolation with her mum Hannah, 40, and her brother Adam, 11, earlier this week to stay safe […]

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Expert heart advice for rare genetic muscle disorder

A rare, inherited muscle disorder that occurs in about 1 in 8,000 people, myotonic dystrophy also can affect the heart and other organs. A new set of expert recommendations offers guidance for managing the progressive condition. “Your average cardiologist doesn’t see this all the time, so it can often get overlooked,” said lead author, Dr. Elizabeth McNally. “We want to […]

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Study examines genetic testing in diverse young breast cancer patients over a decade

Breast cancer patients diagnosed under age 50 represent 18 percent of new invasive breast cancer cases in the United States. Compared to postmenopausal women, younger women are more likely to develop aggressive subtypes of breast cancer, have a worse prognosis with increased risk of recurrence, and have higher overall mortality. Young breast cancer patients also are more likely to be […]

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Genetic test could aid quest to reveal causes of rare diseases

The causes of rare diseases could be uncovered using an approach created to identify genetic mutations that trigger a muscle-wasting condition, a study suggests. Researchers have devised a way to pinpoint defective genes that are linked to a rare form of muscular dystrophy, which causes muscle weakening and heart problems. The approach could help doctors perform a faster and cheaper […]

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Study finds genetic testing motivates behavior changes in families at risk for melanoma

Skin cancer is the most commonly diagnosed cancer in the United States, and melanoma is the most severe type of skin cancer. The National Cancer Institute estimates more than 96,000 new cases will be diagnosed this year, and the disease will cause more than 7,000 deaths. Utah has a particularly high melanoma rate. A new study led by researchers at […]

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A new genetic tool to modify and understand gene function

Scientists of the National Center for Cardiovascular Research (CNIC) led by Rui Benedito have developed a new genetic tool called iSuRe-Cre that provides certainty in Cre-inducible genetic modifications, a key technique for understanding gene function. Most analysis of gene function in biomedical research relies on the use of Cre-lox technology. Since its introduction in 1994, this technology has revolutionized biomedical […]

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