Genetics

Candidate drug provides benefit in SMA animal models

In a new publication that appears in Human Molecular Genetics, the laboratory of Christine DiDonato, PhD reports on their pharmacological characterization of the drug RG3039, demonstrating that it can extend survival and ...

Medical research

Scientists find clues to some inherited heart diseases

(Medical Xpress)—Cornell researchers have uncovered the basic cell biology that helps explain heart defects found in diseases known as laminopathies, a group of some 15 genetic disorders that include forms of muscular dystrophy ...

Neuroscience

'Unknown' neurological disorder often incorrectly diagnosed

The very serious hereditary disease HDLS was discovered in 1984 in Sweden. Many HDLS patients are still incorrectly diagnosed with Alzheimer's disease, MS or Parkinson's disease, but researchers at the Sahlgrenska Academy, ...

Obstetrics & gynaecology

Germany clears genetic testing of embryos

Germany's upper house of parliament on Friday gave its green light to testing embryos after in vitro fertilisation in certain cases after a passionate ethical debate in the country on the issue.

Genetics

New findings on gene regulation and bone development

The patients have single short fingers (metacarpals) and toes (metatarsals) and can be restricted in growth due to a shortened skeleton. This hereditary disease is called brachydactyly type E (Greek for short fingers). Three ...

Medical research

High blood cholesterol is overlooked

High blood cholesterol, a serious hereditary disease, is far more common than previously recognised and not treated sufficiently. This is shown in new research from the University of Copenhagen and Herlev Hospital, and the ...

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