Researchers created a new kind of cancer drug that can grab a mutant protein while also carrying a second hit against the ...

In humans, hundreds of proteins interact in a complex network dubbed the interactome. Those interactions are further complicated when disease-causing mutations are introduced into genes that code for ...

A vanishingly rare genetic glitch in a single enzyme can erase a newborn’s brain cells in a matter of weeks, leaving doctors ...

Scientists at the Baylor College of Medicine say they have developed an artificial intelligence (AI) model that reveals how protein modifications link genetic mutations to disease. The method, called ...

Findings bolster the idea that the functions of this protein -- MeCP2 -- are more centered on nucleosomes, rather than other forms of DNA. One particular protein lies at the heart of brain development ...

Scientists have traced a devastating pattern of brain cell loss in a handful of families to a single, ultra-rare mutation ...

Sickle cell diseases arises from hemoglobin protein mutations. The mutation causes red blood cells to form a sickle shape rather than a round one. One study suggests that this mutation could be ...

GRB2-SH3 is a protein with 34 amino acids, each which can be mutated into 19 different amino acids. This can result in 17 billion different combinations of the protein if only a single change allowed ...

Although the genetic cause of many diseases have been identified, it’s estimated that as many as 70% of patients with a rare disorder do not know what causes their disease. Millions of people live ...

A team of researchers have discovered that a mutation in a ribosomal protein found specifically in heart and skeletal muscle leads to impaired cardiac contractility in mice. The mutation was found to ...