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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AI identifies risk of cholesterol-raising genetic disease, study finds

A new algorithm can determine whether a patient is likely to have a cholesterol-raising genetic disease that can cause early, and sometimes fatal, heart problems, reports a new study conducted by researchers at the Stanford University School of Medicine and their collaborators. The disease, known as familial hypercholesterolemia, is often misdiagnosed as garden-variety high cholesterol. “We think that less than […]

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Scientists identify genetic factors that may cause some people to become obese

Obesity is a major public-health problem in the United States and around the world, with an estimated 650 million people suffering from the condition. One of the biggest challenges of this ever-worsening condition is figuring out why people become obese in the first place, and why some people are more vulnerable to obesity than others. Now, scientists at The Rockefeller […]

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Research team identifies a new genetic variant associated with acute respiratory distress

An international collaboration including Javier Belda, professor of surgery at the University of Valencia, has reported a new genetic variant associated with acute respiratory distress syndrome (ARDS). The work, with a sample of more than 2,000 patients, has been published in the Intensive Care Medicine Experimental journal. ARDS is one of the main causes of mortality in adults admitted to […]

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Genetic study provides novel insights into the evolution of skin color

Skin colour is one of the most visible and variable traits among humans and scientists have always been curious about how this variation evolved. Now, a study of diverse Latin American populations led by UCL geneticists has identified new genetic variations associated with skin colour. The study, published in the journal Nature Communications, found that the variation of light skin […]

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AI Technology IDs Genetic Diseases by Analyzing Facial Photos

TUESDAY, Jan. 8, 2019 — Certain genetic diseases can be detected by new artificial intelligence technology that analyzes a photo of a person’s face, according to a study published online Jan. 7 in Nature Medicine. The DeepGestalt technology was better than doctors at identifying a range of genetic syndromes, CNN reported. Examples of conditions that can be identified by the […]

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Study connects the genetic background of autistic spectrum disorders with stem cell dysfunction

Disorders of the autistic spectrum have been associated with hundreds of genetic variations, which have helped in identifying disturbed intracellular signalling pathways and molecular mechanisms typical to autism. Many gene mutations related to the autism spectrum disorders reside in a gene that produces a protein relevant to synapses, or is important for the connections between neurons. Gene defects linked with […]

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On the trail of rare genetic disease, scientists uncover key immune regulator

Scientists at Scripps Research have found an important immune system-regulating protein that in principle could be targeted to treat cancers and chronic viral infections. The scientists, in a study published November 12 in Nature Chemical Biology, set out to determine the function of a protein, ABHD12, whose absence causes a rare genetic disease featuring a host of brain and nerve […]

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