In an interview with KPBS, Dardie Robinson, a paralegal from Portland Oregon discusses how researchers at the Scripps Translational Science Institute (STSI) helped solve the medical mystery behind her son Daniel’s sudden death.
In a unique collaboration, STSI has partnered with the San Diego County Medical Examiner’s Office to perform ‘molecular autopsies’ using genetic sequencing in an effort to explain sudden unexplained deaths in people under the age of 45.
In Dardie’s case, scientists at STSI conducted genome sequencing on Daniel’s heart tissue as well as on samples obtained from Dardie and Daniel’s father. Using computational analysis, they were able to identify a mutation in the TRPM4 gene that has been linked with progressive familial heart block, a genetic condition that alters the normal beating of the heart. Scientists at STSI believe that this mutation is what caused sudden death in Daniel, as well as other members of his family.
Beyond providing Dardie with an answer as to what caused her son’s death, pinpointing this mutation has allowed her and other family members to be tested and take preemptive steps towards possibly avoiding sudden death if they carry the same genetic mutation.
Watch Dardie’s interview on KPBS.