Joubert Syndrome is a rare ... [1] On a daily basis, the genetic origins of many common and not-so-common conditions are uncovered. A myriad of new single-gene defects and syndromes are reported ...

This repeated growth didn’t have much effect on the patients until the gene mutated in size to more than 150 repeats. At this point, other genes that are normally turned off in SPNs begin to ...

Your body is a collection of cells carrying thousands of genetic mistakes accrued over a lifetime—many harmless, some bad and ...

"Both the TET2 and ASXL1 genes can be mutated, individually or together, in clonal hematopoiesis, leukemia, and a premalignant form of cancer called myelodysplastic syndrome," says Dong.

The combination treatment specifically targets KRAS-mutated metastatic colorectal cancer (CRC) to improve progression-free survival. The approval was based on results from CodeBreaK 300 ...

Recently, experimental drugs designed to lower levels of the protein produced by the mutated Huntington's gene have struggled ...

If a gene is faulty or mutated, the coded protein can be structurally and functionally abnormal, leading to disease.

It also includes searching for mutated genes that confer a unique vulnerability to cancer cells and studying gene expression patterns that are associated with mutation status across all tumor types. A ...

Diabetes is a leading cause of global mortality and disability, and its economic burden is substantial. This Review focuses on type 2 diabetes, which makes up 90–95% of all diabetes cases. Type 2 ...

The patient in Louisiana who was hospitalized with severe bird flu illness was found to have a mutated version of the ... mutations in the hemagglutinin gene of a sample sequenced from the patient ...