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Researchers: Key to mysterious disease affecting children could be in the genes

Melissa Marton of the New York Genome Center

Melissa Marton of the New York Genome Center talks about the center's project to find possible genetic risk factors of children contracting COVID-19.  Credit: Newsday / Jessica Kelley

The key to understanding and fighting the mysterious COVID-19-related inflammatory illness that is targeting children across the state could be in their genes.

The New York Genome Center is analyzing blood samples from the young patients with the hopes of finding genetic markers specific to the disease known as "pediatric multi-system inflammatory syndrome associated with COVID-19."

The state is investigating 102 cases of children who have the illness, which shows symptoms similar to Kawasaki disease or toxic shock syndrome. Three people, including an 18-year-old girl from Suffolk County, have died from the syndrome.

"This approach is widely used to study the genetic basis of all diseases,” said Tom Maniatis, Evnin Family scientific director and chief executive officer of the New York Genome Center. “We are trying to see if there are any genetic clues to what might be causing this syndrome in children.

“If we can detect and understand the genetic basis for predisposition, and how the immune system is affected in the disease, it might be possible to develop strategies for the clinical care of these children,” he added.

Gov. Andrew M. Cuomo announced last week the state Department of Health was partnering with the Genome Center and The Rockefeller University to conduct a genome and RNA sequencing study of the illness, which has been identified in 14 other states, including neighboring New Jersey and Connecticut, as well as five European countries.

Cuomo said Wednesday that 60% of children with the illness have tested positive for COVID-19 and 40% had the antibody, meaning they may have been exposed to the coronavirus weeks before. Of those affected, 71% became seriously ill and were placed in intensive care units. He said 43% of those minors remain hospitalized and 19% had to be intubated.

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According to a racial and ethnic breakdown of cases on the state health department's website, 25% were white, 23% black, 20% other, 3% Asian and 31% unknown. In addition, 35% were Hispanic/Latino, 40% non Hispanic and 25% unknown.

Officials at Cohen Children’s Medical Center in New Hyde Park said they are seeing as many as two or three children a day with symptoms of the syndrome: fever and severe abdominal pain, rashes and red lips, eyes and tongue.

Experts believe the patients’ bodies might be having an extreme reaction to COVID-19, the disease caused by the novel coronavirus.

“What’s so striking about this phenomena is that we all thought that most children were relatively safe, considering that they have the lowest mortality rate of any of the categories of COVID patients,” Maniatis said. 

A genome is an organism’s complete set of DNA, including its genes, with all of the information needed to build and maintain that organism, according to the Bethesda, Maryland-based National Institutes of Health.

Researchers will look through the genome of patients in an effort to find DNA sequences that vary from the standard.

“By comparing the children’s DNA sequence to the standard, we might be able to identify a variant that is not seen normally in most individuals,” Maniatis said. “And if you can show that it happens enough, you can begin to conclude that statistically it’s likely the DNA sequence change is associated with the disease."

The next step is RNA sequencing, which could provide insights into identification of altered immune pathways that are known to operate during virus infections.

Similar sequencing research conducted in the past led scientists to discover a gene mutation in people with blood cancer that impacted their immune system. A drug called Gleevec was developed to correct that mutation.

The Feinstein Institutes for Medical Research in Manhasset plans to participate in the study, said Dr. Peter Gregersen, professor of molecular medicine at Feinstein, the research arm of Northwell Health.

He said understanding the genetic variations of COVID-19 and the related illness that’s attacking children is key to finding effective treatment.

“We know age, sex and certain underlying conditions play a role, but genetic variations have something to do with this as well,” Gregersen said. “A lot of variations are unexplained. We know there is a huge variation, and some people don’t get sick at all, while others have a devastating illness.”

Maniatis said a vital part of the investigation is the collaboration with Jean-Laurent Casanova, head of the St. Giles Laboratory of Human Genetics of Infectious Diseases at The Rockefeller University.

“He is one of the world’s experts in this field, and he established an international consortium directed toward understanding exceptional cases of clinical manifestations,” Maniatis said. “With Jean-Laurent’s participation, the search would extend from our efforts in New York and New Jersey to include researchers around the world — and that will increase the statistical significance of any finding.”

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