Why do cancers develop differently in different people—even when they are exposed to the same risk factors? An international research group, including the German Cancer Research Center (DKFZ), has demonstrated in mice that an organism’s […]
SCN2A-related developmental epileptic encephalopathy (DEE) is a rare, severe form of childhood epilepsy and one of the most common causes of monogenic autism. The condition is caused by single mutations in the sodium voltage-gated channel […]
Scientists have found that the “sudden” cardiac death condition related to high-profile deaths or major medical episodes of sports stars including Fabrice Muamba, Christian Erikson and Mark-Vivian Foe, has numerous linked gene variations that highlight […]
When we think about genetic inheritance, we usually leap to DNA, the four-letter code containing the instructions for building a living organism. Scientists know that DNA encodes everything from hair and eye color to a […]
Thousands of times per year, a family’s moment of joy turns to unexpected grief. A seemingly healthy infant stops smiling or making eye contact. Their limbs grow weak. The tiny child suffers seizures and breathing […]
A largely overlooked structure inside our cells may play a crucial role in how the brain forms, offering new insight into developmental disorders and potential therapies.This article was originally published on MedicalXpress.com
A major international study led by Flinders University has identified a genetic contributor to juvenile glaucoma. Published today in the journal JAMA Ophthalmology, the study marks another important step toward treating multiple forms of glaucoma […]
Ahead of World Lupus Day on May 10, new research from the Garvan Institute of Medical Research and UNSW Sydney helps explain why women are significantly more likely to be diagnosed with an autoimmune disease—a […]
An international partnership designed to improve equality in access to genomic medicine for a rare disease has now provided potentially life-saving genetic testing for over 1,100 families across the world.This article was originally published on […]
Individuals that share the same deletion of a portion of chromosome 16 are at risk of developing neurodevelopmental disorders, but some experience severe intellectual disability or developmental delay, while others may only exhibit milder psychiatric […]
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