"Mr. and Mrs. Smith, we finally have an answer for you." The couple, whose real names we are protecting for privacy, looked at me anxiously. I had been evaluating their young daughter, Sally, in my role as a medical geneticist ...
Apr 20, 2022
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A new DNA test, developed by researchers at the Garvan Institute of Medical Research in Sydney and collaborators from Australia, UK and Israel, has been shown to identify a range of hard-to-diagnose neurological and neuromuscular ...
Mar 4, 2022
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Broad scientists analyzed sequencing data from more than 200,000 people and found rare genetic variants associated with diseases like diabetes and heart failure.
Feb 23, 2022
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Rare diseases constitute a major health issue in Europe: An estimated 30 million people live with one, and of these, 50% have not received a diagnosis. The suffering caused by these disorders, both to patients and the doctors ...
Feb 23, 2022
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Researchers from Karolinska Institutet have analyzed blood and sperm samples from healthy parents to children with genetic syndromes and the results indicate that germline mosaicism is underestimated as a cause to syndromes ...
Feb 17, 2022
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When cells divide, through a process called mitosis, the genetic information must be equally distributed among the new cells. That is the moment when mitotic errors can arise, potentially leading to DNA damage, including ...
Jan 20, 2022
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A new ultra-rapid genome sequencing approach developed by Stanford Medicine scientists and their collaborators was used to diagnose rare genetic diseases in an average of eight hours—a feat that's nearly unheard of in standard ...
Jan 12, 2022
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Two-year-old Haoyang has likely just months to live—but the only medicine that can help his rare genetic condition is not found anywhere in China and closed borders due to the COVID-19 pandemic mean he cannot travel for ...
Nov 23, 2021
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Riluzole, a drug approved to treat amyotrophic lateral sclerosis (ALS), a disease affecting nerve cells controlling movement, could slow the gradual loss of a particular brain cell that occurs in Niemann-Pick disease type ...
Nov 19, 2021
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Gene therapy might soon offer a new option for children with a rare genetic disorder that damages tissues throughout the body, researchers are reporting.
Nov 18, 2021
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