Powerful new genomics method can be used to reveal the causes of rare genetic diseases

The technique makes use of the fact that people inherit two copies or ''alleles'' of virtually every gene, one from the mother and one from the father. The new method compares activity levels of maternal and paternal alleles across the genome and detects when the activity of an allele lies far enough outside the normal range to be a plausible cause of disease.

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New genetic link found for some forms of SIDS

Some forms of sudden infant death syndrome stem from a genetic mutation that keeps infants from processing lipids in milk, a new study has discovered. The build-up of unprocessed fatty material disrupts heart functions. While no treatments are yet available, the finding could help in genetic screening. Drugs are also being tested to see if they can help.

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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 enabled genetic diagnoses for three children with previously undiagnosed rare developmental diseases, enrolled in the Deciphering Developmental Disorders project. Reported in Nature Communications, these diagnoses will help the families access support and understand the disease risks for any future children.

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