Genetic disorders can occur due to mutations in one gene (monogenic), multiple genes (multifactorial inheritance), and mutation in one or more chromosomes. Point mutations are where one nucleotide in ...

A new study headed by teams at the Wellcome Sanger Institute, EMBL’s European Bioinformatics Institute (EMBL-EBI), and Open Targets has indicated how mutations that cause cancer drug resistance fall ...

Mixed autism with developmental delay: Roughly 19 percent showed early developmental delays but few signs of anxiety, ...

One of the most challenging moments in cancer treatment comes when a therapy stops working. In many metastatic cancers, drugs ...

Most mutations which cause disease by swapping one amino acid out for another do so by making the protein less stable, according to a massive study of human protein variants published today in the ...

Despite progress in defining functional elements of noncoding DNA, it is still not fully understood. Researchers, using an experiment that elucidated the function of tens of thousands of noncoding ...

A study demonstrates that the 'previous state' of blood stem cells plays a decisive role in the subtype of leukemia that develops. The new technique, called STRACK, allows monitoring of the evolution ...

A rare form of diabetes is emerging in the very first weeks of life, reshaping how doctors think about blood sugar disorders ...

Maureen Sideris, seated, with her sister Marion, receiving the 8th of 9 immunotherapy infusions during successful treatment for early-stage gastroesophageal junction cancer at Memorial Sloan Kettering ...