How new genetic disease research can help reduce infant mortality

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• Researchers report that genetic disorders are responsible for more infant deaths than previously thought.
• They say the findings could help open new avenues in the diagnosis and treatment of life-threatening illnesses in young children.
• Other research projects investigating infant mortality are underway.

Genetic disorders contribute to more infant mortality than previously thought, say one researcher. study Published today in Journal J.AMA network open.

But researchers say the findings could open new avenues for identifying and treating life-threatening illnesses in young children.

This study was conducted by researchers at the Rady Children’s Institute for Genomic Medicine (RCIGM) in San Diego.Researchers examined more than 500 infants with acute illness, 114 of whom died

They reported that more than 4 in 10 infant deaths can be traced to a “single-locus” inherited disease (meaning that the gene or genetic marker resides at a fixed location on the chromosome). bottom.

The researchers noted that in 30% of these cases, treatments already exist that can improve infant outcomes and reduce the likelihood of future death.

“Our knowledge of the causes of infant mortality has been historically limited as it often relies on inaccurate or incomplete death certificate data.” Dr. Nina GoldPediatrician, medical geneticist, and medical biochemical geneticist at the Mass General for Children in Boston.

“Many of the leading causes of infant death are somehow linked to genetic conditions,” she told Healthline. It has been difficult because the application of genetic testing in infancy and after death is neither universal nor equitable.”

These findings point to new promising avenues for future research and therapy, and show where medicine in general is headed, he added. Karen Edwards Ph.D. is Professor of Epidemiology and Biostatistics in the Public Health Program at the University of California, Irvine.

“Genetic variation is important for a variety of conditions and clearly contributes to health and disease,” she told Healthline. use to predict disease risk in adults and to identify those at increased risk for monitoring or intervening in health conditions. We hope that it will also apply.”

That’s what RCIGM researchers recommend.

“At least 500 genetic diseases have effective treatments that can improve outcomes, and undiagnosed genetic diseases are often responsible for preventable deaths.” Dr. Stephen KingsmoreRCIGM’s President and CEO said: press release“The widespread use of genome sequencing in the first year of life could have a much greater impact on infant mortality than previously appreciated.”

“This is a very revealing study,” he added. Dr. Adrian FlorenceHe is a neonatologist at KIDZ Medical and director of the neonatal transport team at St. Mary’s Medical Center in West Palm Beach, Florida.

“The unexpected death of an infant can have devastating consequences for a family. We are entering an era where such tragic events can potentially be prevented,” Florence told Healthline. Told.

Many aspects of infant mortality have long been difficult to discern with the tools available to physicians, but new tests and screenings have uncovered these issues and brought hope to parents.

For example, researchers last year reported a baby dying of sudden infant death syndrome (SIDS). had elevated levels of biomarkers Absent in infants who did not die of SIDS.

For this study, the RCIGM team used them A custom tool for whole-genome sequencing that can identify 500 known genetic diseases, available to hospitals and physicians.

Today, more screenings can offer new opportunities to further reduce infant mortality.

A UK research initiative 2 year pilot project Genetic testing of 100,000 babies to understand the real-world effectiveness of comprehensive genetic testing on both infant mortality and other neonatal health conditions.

“The high rate of infant deaths associated with single-gene variants highlights that rare diseases are major contributors to early childhood health,” said Gold. “Given that there are management guidelines for many of these diagnoses, these findings suggest that expanding newborn screening programs can facilitate the identification of affected children and direct the first steps of care.” also suggests.”

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