Dr francis collins biography examples
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Francis Collins, M.D., Ph.D.
Dr.
Dr francis collins biography examples
Collins' laboratory seeks to identify and understand the function of genes involved in a range of human diseases, both rare and common, with the ultimate goal of identifying new therapeutic opportunities.
One of the lab's significant projects focuses on Hutchinson-Gilford progeria syndrome (HGPS), a rare genetic disorder characterized by premature aging.
HGPS patients typically die from cardiovascular complications in their teens. Dr. Collins' group discovered that a point mutation in the lamin A gene (LMNA) activates a cryptic splice donor, resulting in shortening of the normal version of the encoded protein by 50 amino acids near the C-terminus - this protein has been named "progerin".
They also found that HGPS is associated with significant changes in the shape of the nucleus, these structural defects worsen as HGPS cells age in culture, and introducing progerin into normal cells induces the same changes. Cellular biological analysis implicate