Health
German MPs voice concern about prenatal genetic tests
More than 100 German lawmakers voiced concern on Friday about prenatal tests for genetic disorders such as Down Syndrome that they say lead to more abortions.
Oct 12, 2018
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News tagged with genetic syndromes
Genetics
Researchers using 3-D facial scans to aid diagnosis of children with rare genetic syndrome
Clemson University faculty have been awarded a grant from the National Institutes of Health to investigate the use of 3-D imaging that could allow for quicker diagnosis of children with Phelan-McDermid syndrome, a rare genetic ...
Oct 10, 2018
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Genetics
Solving a medical mystery: Cause of rare type of dwarfism discovered
For children born with Saul-Wilson syndrome, and their parents, much of their lives are spent searching for answers. First defined in 1990, only 14 cases are known worldwide. And the cause of the syndrome—characterized ...
Oct 4, 2018
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Genetics
Stray proteins cause genetic disorders
The seizures typically begin in the first months of life. It often takes years, however, before those suffering from the rare glucose transporter type 1 (Glut1) deficiency syndrome obtain a correct diagnosis. If the disorder ...
Sep 6, 2018
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Oncology & Cancer
Brain tumors occur often in kids with common genetic syndrome
The frequency of brain tumors has been underestimated in children with the common genetic syndrome neurofibromatosis type 1 (NF1), according to a new study. This disorder is characterized by birthmarks on the skin and benign ...
Aug 9, 2018
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Oncology & Cancer
Busting myths surrounding cancer and genetic testing
(HealthDay)—While only 5 percent to 10 percent of cancers are caused by an inherited gene mutation, genetic testing may benefit people with a strong history of family cancer, an expert in genetics suggests.
Apr 13, 2018
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Oncology & Cancer
Genetic link to IBS identified in women
New research coordinated by Karolinska Institutet in Sweden links certain DNA variants to increased risk of irritable bowel syndrome (IBS) in women. The findings, published in the scientific journal Gastroenterology, might ...
Apr 5, 2018
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Cardiology
Genetic heart diseases cause fewer SIDS deaths than previously thought, study finds
Genetic mutations linked to heart disease have been considered a leading cause of sudden infant death syndrome, but a new study by Mayo Clinic, British and Danish researchers finds they are to blame for far fewer SIDS deaths ...
Mar 12, 2018
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Cardiology
Personalized approach to selecting antiplatelet drugs improves outcomes
Patients with acute coronary syndrome experienced a substantially lower rate of heart attack, stroke, death from cardiovascular causes and major bleeding at 12 months if genetic information was used to inform the selection ...
Mar 12, 2018
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Immunology
Traffic jam causes immune cell road rage
Mutations in the gene OCRL cause Lowe syndrome, but it has remained unclear how loss of OCRL leads to the diverse eye, kidney, and neurological symptoms suffered by patients. In the featured article from the October issue ...
Feb 26, 2018
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