Having a rare genetic disease is actually pretty common. Rare diseases affect approximately 1 in 10 individuals, and more than 30 million people in the U.S. have a rare disease diagnosis. What makes them rare is that these ...
Researchers at Case Western Reserve University and the Cleveland Clinic in Cleveland, Ohio, have investigated the potential link between new-onset retinal vascular occlusion (RVO) after receiving the COVID-19 vaccination ...
An experimental drug that is already in clinical trials for other diseases could disrupt a positive feedback loop that exacerbates pulmonary arterial hypertension, a dangerous and rapidly fatal condition for which there is ...
Researchers have successfully used a DNA-editing technique to extend the lifespan of mice with the genetic variation associated with progeria, a rare genetic disease that causes extreme premature aging in children and can ...
Jan 6, 2021
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By decoding the genomes of more than 1,000 people whose homelands stretch from Africa and Asia to Europe and the Americas, scientists have compiled the largest and most detailed catalog yet of human genetic variation. The ...
Oct 31, 2012
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Genetics researchers have identified at least two new gene variants that increase the risk of common childhood obesity.
Apr 8, 2012
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When Michael Pirovolakis received an individualized gene therapy in a single-patient clinical trial at The Hospital for Sick Children (SickKids) in March 2022, the course of his condition was dramatically altered.
Jun 28, 2024
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At Mayo Clinic, the mission to solve the unsolvable is at the heart of every rare disease case. Each diagnosis is a testament to perseverance, innovation and the relentless pursuit of answers.
Jun 24, 2024
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Patients with a genetic syndrome called NF2-related schwannomatosis (NF2-SWN) have tumors that develop on the covering of the brain or grow along the nerves in the brain, spinal cord, and/or other locations in the body.
Jun 24, 2024
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Researchers at the Pacific Northwest Research Institute (PNRI) and collaborating institutions have made a discovery that could significantly advance our understanding of genomic disorders. Their latest study, published in ...
Jun 21, 2024
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