The human genome is a dynamic and ever-evolving puzzle shaped by various mutations and the forces of evolution. In a pair of recent studies, PNRI’s Carvalho Lab is making significant strides in unraveling the intricate relationship between our genes and their structure, shedding new light on the genetic underpinnings of specific diseases.
The first study, delves into a region of our genetic code implicated in at least three brain development disorders. This region overlaps with the MECP2 gene, a linchpin for normal brain function. However, some individuals are born with an extra copy of this gene, a condition known as MECP2 duplication syndrome (MDS), which can cause a range of neurological and developmental problems. Why MDS symptoms and their severity can vary so greatly among people with this condition has puzzled scientists and doctors for years.
