"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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7
A scientific team supported by the National Institutes of Health has created a tiny, bioengineered 3D model that mimics the biology of chronic inflammatory demyelinating polyneuropathy and multifocal motor neuropathy, a pair ...
Apr 19, 2022
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The clinical trial of an old antibiotic for a new purpose is offering hope to thousands of patients with drug-resistant breast cancer whose early remissions have given way to resurgent tumors.
Mar 15, 2022
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3
Acral melanoma is a rare subtype that represents roughly 3% of all melanoma cases. Unlike typical melanoma that occurs on sun-exposed skin, acral melanoma develops on the nonhair bearing skin of the soles, palm and nail beds. ...
Mar 11, 2022
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The National Comprehensive Cancer Network (NCCN)—an alliance of leading cancer centers—today announced the publication of new NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines) for Ampullary Adenocarcinoma. ...
Mar 9, 2022
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2
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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2184
"How many people actually have this disease?"
Feb 28, 2022
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71
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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34
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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