Genetics
Research identifies frequent genetic causes of cerebral palsy
Researchers have discovered a strong link between genetic changes known to cause neurodevelopmental disabilities and cerebral palsy.
Feb 2, 2021
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News tagged with genetic cause
Genetics
Genetic causes of severe childhood brain disorders found using new computational methods
A team of researchers at Children's Hospital of Philadelphia (CHOP) affiliated with the CHOP Epilepsy Neurogenetics Initiative (ENGIN) have combined clinical information with large-scale genomic data to successfully link ...
Aug 26, 2020
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Genetics
Researchers discover treatment option for rare genetic disorder
Researchers from the Icahn School of Medicine used a novel genetic sequencing technology to identify the genetic cause of—and a treatment for—a previously unknown severe auto inflammatory syndrome affecting an 18-year-old ...
Aug 4, 2020
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Genetics
Common inherited genetic variant identified as frequent cause of deafness in adults
A common inherited genetic variant is a frequent cause of deafness in adults, meaning that many thousands of people are potentially at risk, reveals research published online in the Journal of Medical Genetics.
Jul 6, 2020
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Genetics
Jumping genes can cause rare developmental disorders in children
The largest study of its kind into childhood developmental disorders has discovered that jumping genes cause genetic changes in some patients with undiagnosed neurodevelopmental diseases. The research from the Wellcome Sanger ...
Oct 11, 2019
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Genetics
Knockout mice are guide to new genes for eye and skin disorders
Albinism is the best-known of a group of rare genetic disorders that can affect both eyes and skin. Some genes have been identified that are linked to these conditions, but many remain mysterious. Now a team led by UC Davis ...
Aug 1, 2019
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Genetics
A new framework to study congenital heart defects
Each year, 9 months of dreams and anticipation shared by millions of parents-to-be turn to despair and fright when learning their child is born with a birth defect; an often-devastating event affecting one out of 20 children ...
Jul 24, 2019
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Oncology & Cancer
New study discovers genetic changes linked to leukaemia in children with Down's syndrome
Researchers at the University of Oxford, in collaboration with colleagues from Hannover Medical School and Martin-Luther-University Halle-Wittenberg, have discovered the specific gene mutations that are required for the development ...
Jul 11, 2019
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Genetics
Discovery of new mutations may lead to better treatment
Developmental disorders are neurologically-based conditions that affect the acquisition of specific skills such as attention, memory, language and social interaction. Although they have a genetic cause, this is often difficult ...
Jun 17, 2019
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Genetics
New study first to identify cause of rare genetic metabolic disorder
A new study from BC Children's Hospital, the University of British Columbia (UBC) and an international team of researchers published in the New England Journal of Medicine is the first to identify a rarely-seen type of DNA ...
Apr 15, 2019
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