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Clinical genetics news

Rare genetic discovery explains sex development differences in two XY sisters

Two young girls in Vietnam are living proof that there is a lot more to sex than genetics, after being found to have an extremely rare sexual development condition.

First complete genomes for neglected malaria parasites revealed

Scientists have produced gold-standard reference genomes for previously neglected malaria parasites by sequencing low-input DNA directly from patient blood, bypassing lab culture.

Patient age may shape which mutations drive melanoma

Precision medicine for cancer seeks to match treatment to the genetic changes found in a patient's tumor. A new Yale study suggests that for melanoma there may be an important clue to consider: the patient's age.

Axonal defects linked to rare form of Parkinson's disease

A genetic mutation linked to Parkinson's disease produced abnormalities in a subset of nerve cells, offering a clue about the disease's causes, according to a new study published in the Proceedings of the National Academy ...

Alzheimer's discovery reveals brain cleaning gone wrong

A gene responsible for compacting trash inside the brain appears to be a key player in Alzheimer's disease, and doctors may be able to target it to better treat or help prevent the devastating condition, new UVA Health research ...

DNA 'switch' uncovers new brake on breast cancer growth

Adelaide University researchers have found a DNA "switch" that helps the body stop the growth of the most common form of breast cancer, providing new insights that could help with future treatments. Up to 80% of breast cancer ...

Genetic variant may increase the risk of pneumonia

Pneumonia is a common and sometimes serious infection that affects 20,000–30,000 people in Sweden every year. Well-known risk factors include advanced age, smoking and underlying medical conditions. In a new study published ...