Genetics

A new syndrome caused by mutations in AHDC1

A team of researchers led by Baylor College of Medicine have identified the gene underlying a newly recognized genetic syndrome that has symptoms of sleep apnea, delayed speech and hyptonia, or generalized upper body weakness.

Health

One in four has alarmingly few intestinal bacteria

All people have trillions of bacteria living in their intestines. If you place them on a scale, they weigh around 1.5 kg. Previously, a major part of these 'blind passengers' were unknown, as they are difficult or impossible ...

Genetics

Skin cell defect is surprising allergy trigger

In a new study published in Nature Genetics, Northwestern Medicine and Tel Aviv University scientists have found that a structural defect in skin cells can contribute to allergy development, including skin and food allergies, ...

Oncology & Cancer

Novel RNA-based classification system for colorectal cancer

A novel transcriptome-based classification of colon cancer that improves the current disease stratification based on clinicopathological variables and common DNA markers is presented in a study published in PLOS Medicine ...

Genetics

Securely storing and interpreting the genome

At a time when sequencing the genome is becoming democratized, questions have arisen about the interpretation of these data and their secure storage. Sophia Genetics, an EPFL Science Park start-up, specializes in this. The ...

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