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Genetics and Birth Defects

UNC researchers link gene to increased dendritic spines – a signpost of autism

By deleting the NrCAM gene, scientists have found a potential way to cut back on the neural connections implicated in Autism Spectrum ...

Study shows how epigenetic memory is passed across generations

Researchers traced markers of gene repression through cell division and showed that both sperm and eggs transmit a memory of gene repression ...

25 years later: the impact of the cystic fibrosis gene discovery

Dr. Lap-Chee Tsui visits CF drug discovery lab at SickKids to commemorate gene discovery ... Full story

How learning to talk is in the genes

An international study by child health researchers has found that genetic factors contribute to the development of language during infancy. ... Full story

Gene variant that dramatically reduces ‘bad’ lipids

Research using data collected from around 4,000 healthy people in the UK has enabled scientists to identify a rare genetic variant that dramatically reduces levels of certain types of lipids in the blood. ... Full story

New diagnostic method identifies genetic diseases

PhenIX can identify genetic diseases quickly and reliably based on analyses of genes and symptoms ... Full story

Genetic testing uncovers unknown autoinflammatory disorder in SickKids patient, leads to successful targeted therapy: new research

TORONTO – Living with unexplained fevers, feeding problems, digestive issues, an enlarged spleen, occasional rash and other seemingly unrelated symptoms dominated the first seven years of Claire Gvozdanovic’s life. ... Full story

New genetic identification techniques shed light on causes of developmental delay and autism

In an international study published in Nature Genetics researchers have used a new gene discovery approach to identify genes causing developmental delay and autism, which could lead to finding new targeted therapies for these conditions. ... Full story

Botulism’s genetic triggers found

Clostridium botulinum bacteria produce the most deadly toxin we know of. Scientists from the BBSRC strategically-funded Institute of Food Research have discovered genes that are crucial for its germination, which may present a new way of stopping these deadly bacteria growing in our food. ... Full story

Neuroscientists identify key role of language gene

Mutation that arose long ago may be key to humans’ unique ability to produce and understand speech. ... Full story

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