Genetics

Gene discovery to help parents to avoid fatal baby disease

(Medical Xpress)—One of the genes which causes a muscle disease so severe that newborn babies rarely survive beyond a few days has been discovered by an international team of scientists, coordinated by The University of ...

Diseases, Conditions, Syndromes

Newborn screening for cystic fibrosis

A new study led by a team from the Research Institute of the McGill University Health Centre (RI-MUHC) and Cystic Fibrosis Canada reinforces the benefits of newborn screening for cystic fibrosis (CF) patients. Despite the ...

Diseases, Conditions, Syndromes

Is the cure for genetic beta thalassemia finally within reach?

UCSF Benioff Children's Hospital Oakland is the first hospital in the West to administer a newly approved gene therapy to treat beta thalassemia, a rare, genetic blood disorder that causes severe anemia, with a need for lifelong ...

Medical research

DNA sequencing uncovers latent risk for developing cystic fibrosis

A study by researchers at Children's Hospital Los Angeles (CHLA), Brigham and Women's Hospital and the California Department of Public Health suggests that all babies with a known mutation for cystic fibrosis (CF) and second ...

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