Genetics
Genetic testing for epilepsy improves patient outcomes
Genetic testing in patients with epilepsy can inform treatment and lead to better outcomes in many cases, according to a new study published in JAMA Neurology.
Nov 30, 2022
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News tagged with genetic diagnosis
Medical research
Personalising whole genome sequencing doubles diagnosis of rare diseases
Tailoring the analysis of whole genome sequencing to individual patients could double the diagnostic rates of rare diseases, finds a new study led by UCL researchers.
Nov 7, 2022
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Genetics
Care4Rare celebrates a decade of life-changing discoveries and innovations in clinical genetics
For more than a decade, the Care4Rare Canada Consortium (Care4Rare) has provided answers for families living with undiagnosed rare disease. Care4Rare is an international trailblazer in rare disease, using cutting-edge technologies ...
Nov 3, 2022
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Oncology & Cancer
Timely surveillance with chest imaging may benefit colorectal cancer patients
Colorectal cancer patients with certain clinical characteristics may benefit from more frequent chest imaging to help identify and target cancer that has spread to the lungs, according to new research presented at the Scientific ...
Oct 16, 2022
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Oncology & Cancer
Study validates diagnostic assay for Asian cancers
A Singapore research team of clinicians and scientists has validated a cancer diagnostic assay designed with Asian-centric biomarkers that aims to enable early diagnosis and timely treatment delivery. These findings, published ...
Oct 14, 2022
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Diseases, Conditions, Syndromes
Monkeypox outbreaks associated with human-to-human transmission outside endemic areas
Since May 2022, cases of monkeypox have increased globally, stirring fears of a new pandemic. A study published in the open-access journal PLOS Pathogens on September 22 by Professor Souha Kanj and colleagues at the American ...
Sep 22, 2022
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Neuroscience
New blood test for ALS promises rapid diagnosis
Patients with ALS, one of the most serious neurological diseases known, have been hampered by the time it takes to receive an accurate diagnosis. The period between the onset of symptoms and diagnosis averages over a year, ...
Aug 31, 2022
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Neuroscience
Scientists discover new genetic disease that delays brain development in children
Scientists have identified a new genetic disease, which causes some children's brains to develop abnormally, resulting in delayed intellectual development.
Jun 24, 2022
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Neuroscience
Does treatment and its timing affect the costs associated with a genetic neuromuscular disease?
New research published in Developmental Medicine & Child Neurology indicates that early identification and treatment of patients with spinal muscular atrophy (SMA)—a genetic disorder characterized by weakness and wasting ...
Jun 8, 2022
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Genetics
Genetic test can diagnose certain immune system disorders
Primary immunodeficiency disorders (PID) can result in chronic and sometimes life-threatening infections. More than 450 PIDs have been described, but timely and accurate diagnoses remain a challenge. In a new study in The ...
May 23, 2022
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