Genetics
What's behind unexplained epilepsy in kids? A gene test may tell
(HealthDay)—Genetic testing can help guide management and treatment of unexplained epilepsy in children, new research suggests.
Dec 7, 2021
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News tagged with genetic diagnosis
Genetics
Researchers identify a crucial gene that triggers congenital muscular dystrophy
For the targeted treatment of a disease, information is needed about the course of the disease at molecular and cellular level. This is also true for the group of muscle diseases that include congenital muscular dystrophies ...
Nov 29, 2021
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Medical research
Whole genome sequencing increases diagnosis of rare disorders by nearly a third, study finds
Mitochondrial disorders affect around 1 in 4300 people and cause progressive, incurable diseases. They are amongst the most common inherited diseases but are difficult for clinicians to diagnose, not least because they can ...
Nov 3, 2021
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Alzheimer's disease & dementia
AAN issues ethical guidance for dementia diagnosis and care
The American Academy of Neurology (AAN), the world's largest association of neurologists with more than 36,000 members, is issuing ethical guidance for neurologists and neuroscience professionals who care for people with ...
Jul 12, 2021
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Psychology & Psychiatry
Study identifies genetic risks for suicide death in individuals with bipolar disorder
A new study shows that individuals with bipolar disorder who are exposed to significant trauma may be at greater risk for suicide death, suggesting that clinical diagnosis of or genetic predisposition to trauma-related conditions ...
Jul 8, 2021
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Medical research
The use and misuse of race in health care
COVID-19 has put race-based health disparities on full display, but such inequities extend far deeper than the current pandemic. An enduring challenge for physicians and scientific researchers has been to distinguish health ...
Jun 11, 2021
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Genetics
Artificial intelligence can accelerate clinical diagnosis of fragile X syndrome
An analysis of electronic health records for 1.7 million Wisconsin patients revealed a variety of health problems newly associated with fragile X syndrome, the most common inherited cause of intellectual disability and autism, ...
Apr 12, 2021
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Diseases, Conditions, Syndromes
New Lyme disease test distinguishes between early and late-stage disease
For those who live in an area blighted by ticks, the threat of Lyme disease can cast a shadow over the joy of spring and summer. These blood-sucking arachnids can transmit bacteria into the bloodstream of their unsuspecting ...
Apr 7, 2021
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Genetics
Scientists discover new genetic disease that delays brain development in children
Scientists have discovered a new genetic disease, which causes some children's brains to develop abnormally, resulting in delayed intellectual development and often early onset cataracts.
Mar 31, 2021
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Genetics
DNA test identifies genetic causes of severe fetal and newborn illness
A new study by University of California researchers shows the promise of high-throughput DNA-sequencing technologies to improve prenatal diagnosis and pregnancy outcomes for women who have experienced an abnormal prenatal ...
Oct 8, 2020
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