A story about love and prion disease

In 2014, 46-year-old Rebecca (Becky) Lockhart had already served 16 years in the Utah House of Representatives. That year, she became the state’s first female Speaker of the House. Then, just before Thanksgiving, Lockhart began experiencing sudden dizziness. On January 5, 2015, she was unable to speak or swallow and was diagnosed with Creutzfeldt-Jakob disease. Lockhart died just 10 days later, and as with 85% of the cases, no genetic cause could be found.

Sonia Vallabh and Eric Minikel

After Kamni Vallabh’s funeral, Sonia Vallabh and her husband, Eric Minikel, who had just completed his master’s degree in urban planning from the Massachusetts Institute of Technology (MIT), returned to their lives in Boston.

Sonia Vallab Source: YouTube

Learning that fatal familial insomnia was hereditary, Sonia opted to get tested, and the results couldn’t have been worse, she had inherited the disease from her mother.

Eric Minikel
Eric Minikel Source: Youtube

Instead of being crushed by the news, Sonia and Eric sprang into action. As Sonia Vallabh told NPR in a June 2017 article about that time, she said, “We were making our way into a new normal, where this was something we had to live with and learn more about.”

Both Sonia and Eric quit their jobs and went back to school to study biology. Sonia found a job in a lab studying Huntington’s disease, another deadly brain disease, while Eric brought his data analysis skills to a genetics lab.

By the fall of 2013, Vallabh and Minikel had applied for a Ph.D. program at Harvard University, and they applied to conduct research at the Broad Institute, a joint collaboration of Harvard University and MIT.

Vallabh and Minikel decided to focus their research on the protein in the brain that gives rise to prions called prion protein (PrP). It is encoded by the prion protein gene (PRNP) located on human chromosome 20. All vertebrates are thought to have PrP in their brains and it is flaccid. That means it can spontaneously misfold into different shapes, causing its neighboring PrP to misfold as well.

Location of the PRNP gene
Location of the PRNP gene Source: RicHard-59/Wikimedia Commons

After meeting a fellow scientist named Jeff Carroll who was researching his own disease, Huntington’s, Vallabh and Minikel partnered with a pharmaceutical company called Ionis, which antisense oligonucleotides, or ASOs. These are strands of nucleic acids similar to DNA and RNA, and they can eliminate or enhance protein production.

A story about love and prion disease

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