Amy Mahood’s child MJ, who will be three next month, was diagnosed with 1p36 deletion syndrome when he was aged 14 months.

A UCLA, research team has identified a genetic "brake" that prevents the body’s natural defense system from attacking solid tumors. By using CRISPR technology to delete a specific gene called FLI1, ...

Steel syndrome (STLS, OMIM# 615155) is a rare skeletal dysplasia associated with biallelic pathogenic variants in COL27A1 gene. To date, more than 60 patients with STLS have been reported in the ...

Utah's Newborn Screening Program finds 45 genetic disorders shortly after a baby is born. New conditions are added to the list as screening tests and treatments become available. Hunter syndrome, a ...

Hunter syndrome, also called mucopolysaccharidosis II, is an X-linked genetic lysosomal disorder caused by loss-of-function mutations in the IDS gene, encoding iduronate-2-sulfatase (I2S). I2S is a ...