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Genetics news

Genetics

Using AI to improve diagnosis of rare genetic disorders

Diagnosing rare Mendelian disorders is a labor-intensive task, even for experienced geneticists. Investigators at Baylor College of Medicine are trying to make the process more efficient using artificial intelligence. The ...

Genetics

Researchers publish final results of key clinical trial for gene therapy for sickle cell disease

In a landmark study, an international consortium led by researchers at Children's Hospital of Philadelphia (CHOP) published the final results of a key clinical trial of the gene therapy CASGEVY (exagamglogene autotemcel) ...

Oncology & Cancer

Discovering cancers of epigenetic origin without DNA mutation

A research team including scientists from the CNRS has discovered that cancer, one of the leading causes of death worldwide, can be caused entirely by epigenetic changes, in other words, changes that contribute to how gene ...

Genetics

Mosaics of predisposition found to cause skin disease

Clarifying the cause of a skin disease had led to the discovery of a new disease-causing gene, a new category of diseases, and new perspectives for both counseling and therapy. The discovery is the first time that epigenetic ...

Genetics

New strategy for assessing natural history of leukodystrophies

Natural history studies serve as an important standard in medical research because they analyze demographic, genetic, environmental and other variables to better understand how a disease develops and its clinical outcomes.