Despite all our tricks of medical deduction, sometimes a death can just be left unexplained: No heart attack, no stroke, no slip of a cyanide pill…The post-mortem yields nothing, and families are left without closure.
Researchers over at Scripps Translational Science Institute in San Diego, led by renowned cardiologist and geneticist Eric Topol, have begun a study to help families get some answers – and scientists understand the nature of these unexplained deaths.
Teaming up with the San Diego County Medical Examiner, the STSI researchers have begun searching for rare genetic mutations that could give some insight into why a death may happen, and even offer the potential for future preventative screening.
Topol said he came up with the concept while he was writing a review article for Cell: The piece, called “Individualized Medicine from Prewomb to Tomb,” left him wondering more about the tomb part.
“It was an idea that I had that we should not be letting these unexplained sudden deaths in young people go on any longer – because we have the tools to crack the case,” Topol said. Indeed, the TSRI team plans to apply the ability to sequence, and unravel what’s happened in these catastrophic situations.
“We concentrate on people who are alive, but we can learn a lot from people who have died suddenly,” Topol said.
Such unexplained deaths aren’t common – only about a dozen happen each year in San Diego County, said Jonathan Lucas, the city’s chief deputy medical examiner. But they do occur – we just don’t yet know enough about the genetic underpinnings.
The study’s examining the cases of those who died when they were under 45 years old, and didn’t have a history of excessive drug use, alcohol abuse, morbid obesity, heart disease or any other serious medical conditions. The cases will first be identified by the medical examiner’s staff, reviewed by the STSI team, then they’ll ask permission from the individual’s family to research the case.
Blood and heart muscle samples will be collected for analysis; researchers plan to also sequence the participant’s parents or other biological family members to help seek out any genetic aberrations that might have led to the death.
“In individuals with early unexplained sudden death, genome sequencing has the ability to uncover rare conditions with difficult-to-detect symptoms that are invisible to standard physical autopsy,” Ali Torkamani, director of genomic informatics and drug discovery at STSI, said in a statement. “We hope that if a rare life-threatening genetic condition is detected, life-saving interventions may be indicated in living relatives.”
The most common cause of these unexplained deaths – in which an autopsy shows nothing – is an undetected heart arrythmia, Topol said. But if the STSI team targets a mutation that can be linked with an arrhythmia, for instance, it can advise the patient’s family members to take medication, or carry a defibrillator.
“The heart’s an electrical organ at its essence,” Lucas said. “If it has a short, that can lead to someone dying suddenly.”
Take the case of Jason Lappies, a 31-year-old San Diegan who died June 26. He was found by his roommate on their couch, just a few hours after Lappies laid down to watch a World Cup soccer match.
“He was very active and very healthy,” his mother Mary Lappies said in a statement. “He didn’t show any signs of being sick or not feeling good. It came with absolutely no warning.”
While the study’s starting out in San Diego, the Topol team plans to grow this study internationally. The study’s relying on funding from the National Institutes of Health, but hopes to get dollars from philanthropy as it expands, Topol said. See more about the study at ClinicalTrials.gov.