Medical research
Promising study offers hope for Menkes disease patients
A Texas A&M AgriLife Research team has good news for patients with copper-deficiency disorders, especially young children diagnosed with Menkes disease.
May 8, 2020
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News tagged with rare genetic disorder
Oncology & Cancer
Starving pancreatic cancer of cysteine may kill tumor cells
A new study from Columbia University Irving Medical Center and the Herbert Irving Comprehensive Cancer Center suggests a compound in development for a rare kidney stone disease may have potential against pancreatic cancer. ...
Apr 2, 2020
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607
Diseases, Conditions, Syndromes
How 'Stranger Things' widened awareness of a rare disorder
(HealthDay)—Teenage actor Gaten Matarazzo III was born with a rare genetic disorder that affects bone development. And ever since his Netflix series "Stranger Things" became a hit, public interest in the condition has shot ...
Feb 20, 2020
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Psychology & Psychiatry
Multi-center neuroimaging study offers new insights on schizophrenia
What if the key to a better understanding of schizophrenia has been here all along—but researchers haven't had the resources to study it?
Feb 12, 2020
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117
Medications
Priceless cure for baby cost $2.1 million, but insurer paid and now she's expected to live
Four-month-old Ainsley Cardente smiles, enjoys "helicopter" rides from her mom and protests when lunch is late. Perfectly ordinary, all of it. And her life is expected to remain that way thanks to a $2.1 million drug recently ...
Jan 6, 2020
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10
Genetics
Researchers crack rare gene variant and deliver hope to South Australian family
Working in a highly successful collaboration between the Centre for Cancer Biology (a University of South Australia and SA Pathology alliance), the University of Adelaide, and the Women's and Children's Hospital, UniSA Ph.D. ...
Dec 16, 2019
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Neuroscience
CBD medicine may help ease another form of seizure
(HealthDay)—Prescription-grade CBD may help control hard-to-treat seizures caused by a rare genetic disorder, a preliminary study suggests.
Dec 9, 2019
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6
Medical research
Researchers discover potential new treatment for rare muscle-wasting disease
A team of Cardiff University researchers has uncovered a potential new way to treat a very rare genetic disorder that causes muscles in the arms and legs to become increasingly weak.
Nov 21, 2019
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2
Medications
Cracking the mystery of a rare bleeding disorder—and pursuing 'off-the-shelf' drugs to treat it
Consider for a moment that your life is dominated by spontaneous nosebleeds, chronic stomach hemorrhaging, persistent anemia and a complex constellation of other manifestations, some potentially life-threatening.
Genetics
Gene regulators work together for oversized impact on schizophrenia risk
Researchers have discovered that gene expression regulators work together to raise an individual's risk of developing schizophrenia. Schizophrenia-like gene expression changes modeled in human neurons matched changes found ...
Sep 23, 2019
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