Human DNA is highly dynamic and ever changing. DNA sequences constantly modify. While the DNA changes occur randomly, the impacts can be anything but arbitrary. Changes to key regions of the genome responsible for important biological roles can result in disease and disability.
The Carvalho Lab at the Pacific Northwest Research Institute (PNRI) studies how, when, and why human genomic variants occur and contribute to the development of disease and disability. Sometimes the variation in DNA sequences may be just a single nucleotide in the DNA sequence that changes, or it may be tens, hundreds or thousands that get jumbled and they may fully transform an entire chromosome. While most genetic variants are harmless, some create detrimental impacts evident at birth or surfacing later in life. Using advance genomic tools, the Carvalho Lab uncovers genomic variants and studies them to learn how they occur and their impact on human development.
Through collaborations with research groups in the United States and around the world, the Carvalho Lab focuses on genomic alterations that lead to diseases such as MECP2 Duplication Syndrome where complex genetic inversions, doublings and even triplings produce neurological and development disorders, primarily in males. The Carvalho Lab uses state of the art genomic methodologies to identify every genetic structural variant involved in MECP2 duplication syndrome. Similar research to understand the genetics behind Robinow Syndrome, a rare disease producing skeletal abnormalities, led to the breakthrough discovery of the four major genes which, when altered, cause the malformations unique to Robinow Syndrome.