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Subsequently, we analyzed the remaining exons of the UBA1 gene by Sanger sequencing. Results Using the above described method we have identified the previously described variants p.Met41Thr in two and ...

Background De novo mutations (DNMs) are linked with many severe early-onset disorders ranging from rare congenital malformation to intellectual disability. Conventionally, DNMs are considered to have ...

Objectives Mutations in the X-linked endosomal Na+/H+ exchanger 6 (NHE6) cause Christianson syndrome (CS). Here, in the largest study to date, we examine genetic diversity and clinical progression in ...

Genetic diagnosis of MODY additionally allows for the identification of at-risk first-degree family members, who have a 50% chance of inheriting a gene mutation. Unfortunately, insurance often denies ...

Layna Lou Durocher is an 18-month-old girl who was born with a rare gene mutation which makes her care very complex. Sydney Gardiner, Lanya’s mother, shares her story and the toll the condition ...

Conditions like cystic fibrosis, Huntington’s disease, and muscular dystrophies are examples of diseases caused by such single-gene mutations. Genetic testing plays a crucial role ... Other disorders ...

Scientists at the Texas Biomedical Research Institute have identified a strain of the bird flu virus in a patient that carries up to nine mutations. While it is not yet proven, it is suspected that ...

Gene expression regulation in cancer and cellular functions Date: January 24, 2025 Source: The Korea Advanced Institute of Science and Technology (KAIST) Summary: A research team has identified ...

Introducing the KIF1A(R11Q) variant into Caenorhabditis elegans reproduced KAND symptoms of impaired coordination and movement. Genetic suppressor screens identified intragenic mutations in UNC-104 ...