Although the genetic cause of many diseases have been identified, it's estimated that as many as 70% of patients with a rare ...

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 ...

Researchers at Baylor College of Medicine have discovered that certain p53 mutants hijack the DNA replication machinery ...

Around 3 in 2,000 people are born with hearing loss. Typically irreversible, it's a lifelong condition that often presents ...

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 ...

Synonymous mutations have long been ignored in cancer studies since they don’t affect the amino acid sequences of proteins. But research increasingly reveals that they can have disease-driving effects ...

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 ...

Although previously thought to be neutral, research in yeast suggests that synonymous point mutations may have strongly nonneutral effects. A group of researchers from the University of Michigan (MI, ...

Cyclophosphamide, Thalidomide, and Dexamethasone as Initial Therapy for Patients With Newly Diagnosed Multiple Myeloma in a Middle-Income Country: 7-Year Follow-Up A total of 962 cases of CML on ...