Your DNA can reveal a lot about yourself. Genealogists use direct-to-consumer DNA test kits to find out more about their heritage. Other types of DNA testing can tell a person whether or not he or she carries a mutated gene that increases the risk of developing a certain disease. A DNA “typo” ended up leading Sonia Vallbh to the White House.
Sonia Vallbh, PhD., is a student at the Broad Institute of MIT and Harvard. In 2010, she got married to her husband Eric Minikel. At the same time, her mother’s health rapidly went downhill. Sonia watched her mother degenerate from a disease that did not have a name.
She did not know why her previously healthy mother suddenly became so ill. Sonia’s mother, at age 51, single-handedly organized Sonia’s wedding. Not long after that, her mother fell into a deep dementia.
An autopsy later found that Sonia’s mother had a gene mutation (or a “typo” in a gene) that caused a fatal prion disease. There is no cure for it. Sonia Vallbh decided to get tested to see if she carried that mutated gene. Sadly, it turned out that she does have the mutated gene that caused her mother’s prion disease.
A prion disease occurs when a normal prion protein, which is found on the surface of many cells, becomes abnormal and clumps in the brain. This causes damage to the brain. The accumulation of protein in the brain can cause memory impairment, personality changes, and difficulty with movement. Prion disorders are generally fatal.
Sonia learned that she had a prion disease thanks to predictive genetic testing. She feels it was what “changed a life-shattering trauma into a potentially life-giving tool”. She and her husband retrained themselves by taking night classes and attending conferences so that they could learn as much as possible about her disease.
Today, both Sonia Vallbh and her husband Eric Minikel are working at the Broad Institute and devoting their lives to developing therapeutics for her disease. What gives her hope is President Obama’s Precision Medicine Initiative. It is designed to develop better approaches to preventative care and medical treatments.
Precision medicine is designed to enable doctors to tailor health care specifically for an individual patient. It takes into account many things, including the patient’s lifestyle, environment, and DNA. More than 40 private-sector organizations, and a variety of federal agencies, are making commitments to new actions and principles that are part of the Precision Medicine Initiative.
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