presenilin 1 gene
Posted on by Dr. Francis Collins
While attending college in her native Colombia, Yakeel T. Quiroz joined the Grupo de Neurociencias de Antioquia. This dedicated group of Colombian researchers, healthcare workers, and students has worked for many years with a large extended family in the northwestern district of Antioquia that is truly unique. About half of the more than 5,000 family members inherit a gene mutation that predisposes them to what is known locally as “la bobera,” or “the foolishness,” a devastating form of early-onset Alzheimer’s disease. Those born with the mutation are cognitively healthy through their 20s, become forgetful in their 30s, and descend into full-blown Alzheimer’s disease by their mid-to- late 40s. Making matters worse, multiple family members sometimes are in different stages of dementia at the same time, including the caregiver attempting to hold the household together.
Quiroz, now a researcher at Massachusetts General Hospital in Boston, vowed never to forget these families. She hasn’t, working hard to understand early-onset Alzheimer’s disease and helping to establish the Forget Me Not Initiative to raise money for affected families. With an NIH Director’s Early Independence Award, Quiroz also recently launched her own lab to pursue an even broader scientific opportunity: discover subtle pre-symptomatic changes in the brain years before they give rise to detectable Alzheimer’s. What she learns will have application not only to detect and possibly treat early-onset Alzheimer’s in Colombia but also to understand the late-onset forms of the dementia that affect an estimated 35.6 million people worldwide.