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 ...

From the time we are conceived and through old age, genetic mutations accumulate in all our tissues, eluding the body’s typically efficient DNA repair machinery and potentially affecting our health ...

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 ...

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 ...

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 ...

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 ...