Summary: New research, soon to be published in the American Journal of Medical Genetics, identifies novel genes associated with sudden unexplained infant deaths (SUID), including SIDS. These genes play a crucial role in detecting and responding to hypoxia, or low levels of oxygen in body tissues. Vulnerabilities in these genes could heighten the risk of death, particularly in infants sleeping face down. The findings offer insight into the genetic underpinnings of SUID and highlight the importance of further research in understanding and preventing sudden infant deaths.

Key Takeaways: 

  • The SIDS Summit, gathering over 155 international researchers and data scientists, showcased new insights, including the potential of genetic testing at birth to predict SIDS risk and other causes of sudden infant death.
  • Researchers identified novel genes associated with sudden unexplained infant deaths, shedding light on genetic factors influencing susceptibility.
  • Other research discussed at the summit included investigations into the connection between birthweight and stillbirth risk, as well as emerging evidence on the adverse impact of vaping during pregnancy on preterm birth, a risk factor for SIDS.

New research suggests genetic testing at birth may hold the promise of detecting sudden infant death syndrome (SIDS) risk—and potentially other causes of sudden death later in life.

The research was among new insights discussed among more than 155 international researchers and data scientists who met for the Seventh Annual SIDS Summit in the Pacific Northwest. The event was sponsored by The Center for Integrative Brain Research at Seattle Children’s and Microsoft AI for Good Lab.

SIDS is the leading cause of death of infants 1 month to 1 year old in the US and other developed countries. The new findings, resulting from a partnership between the Center for Integrative Brain Research at Seattle Children’s and data scientists at Microsoft, come from the first-ever whole genome sequencing of 145 infants who succumbed to SIDS. 

The Aaron Matthew SIDS Research Foundation funds the database, which is maintained and managed at Seattle Children’s Research Institute.

Unraveling the Genetic Roots of Sudden Infant Death

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In a study, soon to be published in the American Journal of Medical Genetics, researchers identify novel genes associated with sudden unexplained infant deaths (SUID), which includes SIDS. Some of these genes are important for detecting and responding to hypoxia—low levels of oxygen in body tissues. Children with these vulnerabilities could increase their susceptibility to death caused from sleeping face down.

For decades, medical professionals have found a correlation between the sleeping position of infants and SIDS. This research suggests why that risk exists for certain infants. The study also identified genes associated with sudden cardiac death, which could also explain why some children are particularly vulnerable to succumb to SIDS. 

However, because not every child with this vulnerability will succumb to SIDS, those who survive may be vulnerable to sudden cardiac death later in life. Sudden cardiac death is responsible for 360,000 fatalities annually in the United States.

“Scientific research sometimes leads to surprises,” says Jan-Marino Ramirez, PhD, director of the Center for Integrative Brain Research at Seattle Children’s, in a release. “One surprise in our research leads to an exciting question: What if a genetic test at birth could not only predict the risk of SIDS but also terminal cardiac problems well into adulthood? Preventative treatments exist for these dangerous conditions, and early detection could save lives.”

The SIDS Summit

John Kahan, the former Microsoft vice president and chief data analytics officer who co-founded The Aaron Matthew SIDS Research Foundation with his wife Heather Kahan, organized the first SIDS Summit while he was working at Microsoft.

“Thanks to this collaboration between world-class researchers and data scientists armed with cutting-edge AI, we can now use genetic data to predict children at high risk of SIDS, which claims approximately 3,200 children a year,” Kahan says in a release. “We are getting far closer to enabling medical professionals to bring preventative treatments to children who exhibit these risks and potentially to far more people—those susceptible to sudden cardiac death later in life.” 

Juan M. Lavista Ferres PhD, MS, Microsoft Chief Data Scientist and the director of the AI For Good Lab at Microsoft, is among those who hosted the summit this week. Lavista was the lead researcher who used big data to estimate that 22% of sudden or unexplained infant deaths in the United States can be directly attributed to maternal smoking during pregnancy, which led to the assertion that SIDS rates can be reduced through education programs about the risks of smoking during pregnancy.  

“The learning from this collaboration with SIDS researchers is proving, once again, the power AI has to scale human expertise,” Lavista says in a release. “It’s a privilege for my team to put AI in the hands of some of the leading medical researchers in the world, and to see the number of potentially life-saving outcomes that flow from their work, partly through their access to AI.”

Other Research Discussed

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The new findings on the mechanisms of SIDS were among many issues discussed at the Seventh Annual SIDS Summit, hosted by Ramirez, Kahan, and Lavista. 

Other research discussed included:

  • A new paper on the connection between birthweight and stillbirth risk. The goal of the research, by Dr Edwin A. Mitchell, from the University of Auckland, New Zealand, together with Drs Darren Tanner and Juan M. Lavista Ferres of Microsoft is to arm clinicians with more information to use in conjunction with other clinical details to guide obstetric management and reduce infant mortality.
  • Emerging laboratory evidence of the adverse impact of vaping on the developing fetus and emerging epidemiological data of its association with preterm birth, a risk factor for SIDS. The presentation, “Vaping and SIDS: The Developing Story,” by Barbara M. Ostfeld, PhD, professor of pediatrics at Rutgers Robert Wood Johnson Medical School and program director of the SIDS Center of New Jersey, covered why this topic matters, what is known, thus far, and what more we need to learn.

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