by Howard Hughes Medical Institute The patient, a 15-year-old girl, had come to London’s Great Ormond Street Hospital for a double lung transplant. It was the summer of 2017, and her lungs were struggling to reach even a third of their normal function. She had cystic fibrosis, a genetic disease that clogs lungs with mucus and plagues...
Category: <span>Genetics</span>
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Québec siblings with rare orphan disease lead to discovery of rare genetic diseases
Mutations in a gene involved in brain development have led to the discovery of two new neurodevelopmental diseases by an international team led by researchers at McGill University and CHU Sainte-Justine Research Center. The first clues about the rare disorder arose after doctors were unable to diagnose why two siblings from Québec City were experiencing seizures and neurodevelopmental deficits. Desperate, the children’s family turned to...
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Gene repair improves memory and seizures in adult autism model
by The Scripps Research Institute A new study challenges the presumption that people born with developmental brain disorders such as severe autism will benefit from medical interventions only if treated during a narrow window in infancy or early childhood. Writing in the journal eLife, an open-access scientific journal, the Rumbaugh lab at Scripps Research in Florida reports improvement in...
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Researchers identify 20 novel gene associations with bipolar disorder
by The Mount Sinai Hospital In the largest study of its kind, involving more than 50,000 subjects in 14 countries, researchers at the Icahn School of Medicine at Mount Sinai and more than 200 collaborating institutions have identified 20 new genetic associations with one of the most prevalent and elusive mental illnesses of our time—bipolar disorder. The study is reported in the May...
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Gene therapy may help fight tough-to-treat blood cancer
by Amy Norton, Healthday Reporter (HealthDay)—A gene therapy that tweaks the immune system might offer hope to people with blood cancer that has resisted standard treatments, a new preliminary trial suggests. The cancer, called multiple myeloma, arises in certain white blood cells. It is currently incurable, but there are treatments that can help people live with the disease for years. However, most people eventually progress, and some fail to respond to the available therapies...
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Sickly sweet or just right? How genes control your taste for sugar
by Daniel Liang-Dar Hwang, The Conversation You might love sugary doughnuts, but your friends find them too sweet and only take small nibbles. That’s partly because your genes influence how you perceive sweetness and how much sugary food and drink you consume. Now our recently published study shows a wider range of genes at play than anyone thought. In particular, we suggest how these genes might work with...
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SCIENTISTS GENE-EDITED HIV TO CURE “BUBBLE BOY” DISEASE
Normal Lives Researchers from St. Jude Children’s Research Hospital have reportedly used HIV to cure infants born with “bubble boy” disease — a remarkable example of hijacking a deadly virus for a new treatment. “The children are cured,” researcher Ewelina Mamcarz toldNBC News. “They came to us as little infants, some of them as young as 2 months, with severe infections. Now they are home, living...
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New method to detect off-target effects of CRISPR
by Julie Langelier, Gladstone Institutes Since the CRISPR genome editing technology was invented in 2012, it has shown great promise to treat a number of intractable diseases. However, scientists have struggled to identify potential off-target effects in therapeutically relevant cell types, which remains the main barrier to moving therapies to the clinic. Now, a group of scientists at the Gladstone Institutes...
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Liver illness strikes Latino children like a ‘silent tsunami’
by Rob Waters, Kaiser Health News Saira Diaz uses her fingers to count the establishments selling fast food and sweets near the South Los Angeles home she shares with her parents and 13-year-old son. “There’s one, two, three, four, five fast-food restaurants,” she says. “And a little mom-and-pop store that sells snacks and sodas and...
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Discovery of genetic variants that protect against obesity and type 2 diabetes could lead to new weight loss medicines
Around four million people in the UK carry genetic variants that protect them from obesity, type 2 diabetes and heart disease, suggests new research from the University of Cambridge. The team say the discovery could lead to the development of new drugs that help people lose weight. Scientists have known for several years that genes...