World’s largest study of autism and genes begins

Scientists funded by the Simons Foundation Research Initiative on Thursday announced the launch of an online research initiative that aims to gather DNA and other information from 50,000 people with autism and their family members.

Although the cause of the social communication disorder is unknown and believed to be a mix of environmental and genetic factors, scientists have identified some 50 to 70 genes that may play a role in the condition.

Some estimate that a total of 350 or more could be involved.

The long-term study involves researchers from more than 21 medical institutions, including Boston Children’s Hospital, the University of North Carolina-Chapel Hill, the Kennedy Krieger Institute, and Weill Cornell Medicine.

Autism diagnoses are rising in the United States at a high pace, and a survey estimated earlier this year that one out of 45 children aged 3 to 17 have the condition.

The issue has strained state and federal resources for special needs and created whole industries of companies catering to interventions and therapies.

Autism is considered to be a spectrum disorder, which means that some people are more severely affected than others. Some of those with the condition are non-verbal and need support throughout their lives. Others are considered to be on the high-functioning end and their symptoms are significantly milder. Actress Darryl Hannah, best known for “Splash,” is among the celebrities who have publicly spoken about their struggles with the condition.

Among the main controversies surrounding autism are its definition and methods of diagnosis, which have changed significantly over the years. There’s no blood test or other biomarker for the condition, so doctors rely on parent and teacher surveys, observations, and a test that simulates how the person might respond in a typical conversation. In recent years, the National Institutes of Health has led a brain imaging study that looks at different aspects of how the brain develops and activates in children with autism.

Joseph Piven, who is co-leading the team at UNC-Chapel Hill, said the initiative would help accelerate an era of personalized medicine for people with the condition. He said the data from the study “link that data to guide targeted treatment research based on a patient’s genetic analysis.”

That approach is likely to be a long way away. Scientists still haven’t been able to figure out how genes work to create specific diseases that are measurable in the body, much less how genes and the environment interact with each other to create more difficult to define personality traits.

Autism is primarily treated these days with a battery of therapies with speech, physical and behavioral and socialization goals rather than with medication. With the complexity and diversity of autism, individualized treatments are necessary, but it’s unclear what role genes will play in which ones will work.

For information about the study or to sign up, go to www.sparkforautism.org.

Talk to us

More in Local News

A car drives by Everett Station where Everett Mayor Cassie Franklin's proposal for its ARPA funds includes funding a child care center at station. (Olivia Vanni / The Herald) 20211118
Council approves lease for Bezos Academy at Everett Station

The preschool will be tuition-free. “I just know how darned important it is,” Councilmember Liz Vogeli said.

Jesse Spitzer (Snohomish County Sheriff's Office)
Wanted man fled from Gold Bar to Idaho, police say

Jesse Spitzer, 30, who has a history of violence against officers, is wanted for felonies in two states.

Sen. Ron Muzzall, R-Oak Harbor, left, speaks on the floor of the Senate, Wednesday, Jan. 26, 2022, at the Capitol in Olympia, Wash., during debate on a measure that would delay implementation of a long-term care program and the payroll tax that pays for it. The Senate passed the measure, which was passed by the House last week, and Gov. Jay Inslee is expected to sign the measure on Friday. (AP Photo/Ted S. Warren)
Delay of Washington’s long-term-care program signed into law

The bill addresses concerns about the program’s solvency and criticism about elements of the underlying law.

Police: Marysville Pilchuck student arrested for wielding knife

Neither of the students involved in the Wednesday morning fight was injured, police reported.

Police looking for Mukilteo bank robber, seeking tips

The man appeared to be in his late 20s or early 30s, white, slender, about 5-foot-8, with dark blond hair.

Registered nurse Estella Wilmarth tends to a patient in the acute care unit of Harborview Medical Center, Friday, Jan. 14, 2022, in Seattle. Washington Gov. Jay Inslee is deploying 100 members of the state National Guard to hospitals across the state amid staff shortages due to an omicron-fueled spike in COVID-19 hospitalizations. Inslee announced Thursday that teams will be deployed to assist four overcrowded emergency departments at hospitals in Everett, Yakima, Wenatchee and Spokane, and that testing teams will be based at hospitals in Olympia, Richland, Seattle and Tacoma. (AP Photo/Elaine Thompson)
Past the omicron peak? Snohomish County’s COVID cases declining

Hospitalizations are still a concern, however, and infections in Eastern Washington and Idaho could have ripple effects here.

To Kill a Mockingbird by Harper Lee.
‘White saviorhood’: Mukilteo schools end ‘Mockingbird’ requirement

The book is not banned in the school district. The last book brought before the school board was by Maya Angelou.

Funko mascots Freddy Funko roll past on a conveyor belt in the Pop! Factory of the company's new flagship store on Aug. 18, 2017.  (Dan Bates / The Herald)
Despite Arizona move, Everett leaders expect Funko HQ to stay

The toymaker is closing Everett warehouses. But a recent “HQ2” expansion has the city confident Funko will remain rooted here.

Anthony Boggess
Man charged with first-degree murder for killing of Marysville roommate

Anthony Boggess, 30, reportedly claimed “demons” told him to hurt people. He’s accused of killing James Thrower, 65.

Most Read