Sudden unexplained death among individuals is a long-standing mystery among forensic scientists. On June 26th in San Diego, Jason Lappies took a seat on his sofa to watch a World Cup Soccer match before his shift at work started. When his housemate returned later that day however, Jason remained lying on the sofa in the same position as that morning. Jason was a healthy, well traveled and outgoing 31 year old with no health problems. He was not involved in drug use and was eagerly planning his return trip to South Korea to teach English.
(Jason Lappies, 31, was a well traveled and active person who suddenly died in June with no explanation - photo credit to Allen J. Schaben / Los Angeles Times)
An autopsy was performed but left all questions unanswered. It was suggested that a cardiac arrhythmia may be related to the death but no cause was found. How was it possible that a young and fit individual had died so suddenly with no obvious cause?
This is an answer that The Scripps Research Institute, in partnership with the county Medical Examiner's Office, hopes to answer. Today there was an announcement of the collaborative program, called the Molecular Autopsy Study, which aims to underpin the cause of sudden deaths through the power of genomics.
Dr. Eric Topol, a cardiologist and geneticist who leads the Scripps Research Institute and Dr. Jonathon Lucas, the county's deputy chief medical examiner will supervise the new study. The pair believe any resulting discoveries could help prevent future deaths among relatives and provide some measure of psychological and emotional comfort to them.
Dr. Topol is a practicing cardiologist at Scripps with a special interest in genetics, among other areas. To date, he has carried out extensive research into understanding how an individuals genetics can affect their overall health risks, with a focus on the heart. He has helped in the discovery of multiple genes which can leave a person more susceptible to heart attacks, helping him to earn the title as one of the Country's 12 Rock Stars of Science in GQ magazine. He continues to meet patients while undertaking vast amounts of research as he believes that research is only as good as what it can do to help others.
Cardiac arrhythmias cannot be detected by autopsies and therefore could be the causes of sudden death but remain undetected. This new study will see the use of molecular biopsies which involves taking tissue samples in order to sequence their genomes.
Dr. Jonathon Lucas carries out approximately 220-230 autopsies a year in San Diego. He frequently deals with deaths by gunshot or drug overdose; the cause of death obvious. According to the deputy chief medical examiner however, there are approximately 12 sudden deaths among young people in San Diego county each year. In these instances it is beyond the capabilities of an autopsy to find the underlying cause of death.
This is when molecular biopsies come into play.
Using DNA from blood and heart samples, the genomes will be sequenced and analyzed. Dr. Topol's research involving genetic variations linked to heart implications will come in handy, allowing scientists to pinpoint any genes which may have been responsible for their sudden death. Analyzing the genomes of the departed will allow a database to be collected overtime which may lead to the identification of genes linked to sudden death. Saliva will also be collected from two close relatives, parents ideally, to allow closer genetic analysis.
There have been 5 sudden deaths chosen to date for use in the study following family consent, including Jason Lappies. With increased emotional heartache and fear from relatives associated with sudden death, there has been better than expected cooperation from families. The study calls for people who have died by the age of 45, including infants, who have no history of serious medical issues or drug or alcohol abuse.
Problems may be encountered in the new study. Firstly, identifying genetic variations which can be linked to sudden death may be easier in some people and harder in others. It may not always be clear cut if the variations are implicated in the mysterious death or not and so will require patience and hard work from the researchers. Another issue is the expense of genome sequencing and analysis. Although, the price has greatly decreased over the years due to emerging technologies, it still costs around $4,000-$5,000. It is hoped that the study will be successful and spread to other areas of California, outside San Diego. Many medical examiners officers aren't equipped for genome sequencing however which may be a restriction.
Sudden death, and therefore the study, isn't limited to just adults infants are also affected. The death of babies under the age of 1 is referred to as SIDS (Sudden Infant Death Syndrome). There are approximately 3,000 cases of SIDS each year in the United States. It is a frightening prospect for parents as it can occur in babies that appear perfectly healthy, with no warning and commonly when they are sleeping. There is currently no prevention but there are tips which can lower the risk (see below).
(photo courtesy of www.imsafe.com)
AG Scientific is committed to giving back to the community through the donation of money to SIDS Research. AG Scientific is the sponsor of the Daly Memorial Golf Tournament in loving memory of Daly Lindgren, 10/18/1998-2/4/1999 annually. The event helps to raise awareness and money for SIDS, with members of the pubic welcome to join.
Further information on what AG Scientific is doing to give back to the community through donations to SIDS Research can be found here. It is through raising awareness and continued research that we can help prevent SIDS affecting more poeple in the future.