Simons Foundation Autism Research Initiative

RESEARCHERS FIND EARLIER INTERVENTION LEADS TO GREATER IMPROVEMENTS IN YOUNG CHILDREN ON THE AUTISM SPECTRUM

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Thursday, April 13, 2023
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While prior studies provided strong evidence for the benefits of early intervention in autism, many are correlation studies rather than randomized controlled studies that can provide more conclusive results.

Key Points: 
  • While prior studies provided strong evidence for the benefits of early intervention in autism, many are correlation studies rather than randomized controlled studies that can provide more conclusive results.
  • Researchers used the Early Social Interaction (ESI) model, a parent-implemented intervention for toddlers diagnosed with autism that provides a framework to support a child's development in social communication and active engagement.
  • The study found that children who received individualized ESI coaching earlier showed greater gains in use and understanding of language, social use of communication skills, and self-help skills.
  • This research was also supported in part by the funding from Autism Speaks and the Simons Foundation.

Boston Children's Hospital names Wendy Chung, MD, PhD, Chief of the Department of Pediatrics

Retrieved on: 
Tuesday, February 14, 2023
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BOSTON, Feb. 14, 2023 /PRNewswire/ -- Boston Children's Hospital has named Wendy Chung, MD, PhD, the hospital's next Chief of the Department of Pediatrics.

Key Points: 
  • BOSTON, Feb. 14, 2023 /PRNewswire/ -- Boston Children's Hospital has named Wendy Chung, MD, PhD, the hospital's next Chief of the Department of Pediatrics.
  • Dr. Chung will be responsible for leadership, strategy, oversight, and vision for the Department of Pediatrics, ensuring alignment with the goals, strategic priorities and mission of Boston Children's, the Physician's Organization, and Harvard Medical School.
  • In addition to her role as Chief of the Department of Pediatrics, Dr. Chung will serve as the Mary Ellen Avery Professor at Harvard Medical School (HMS), and President of the Children's Hospital Pediatric Associates.
  • "Dr. Chung is a tremendous addition to our Boston Children's team," says Kevin B. Churchwell, MD, President and CEO Boston Children's Hospital.

Study Demonstrates the Utility of Exome Sequencing for Diagnosing Autism Spectrum Disorders

Retrieved on: 
Thursday, October 13, 2022
Health, LinkedIn, Disease, Risk, Diagnosis, ASD, Machine learning, Patient, Data, Research, SMFR, Twitter, Instagram, Pediatrics, Annual general meeting, Simons Foundation Autism Research Initiative, Autism spectrum, Disorder, Epilepsy, AI, Autism, Genetic testing, CNS, American Academy, GLOBE, American Academy of Pediatrics, SFARI, Child, GeneDx, Gene, Pharmaceutical industry, Vaccine, Medical device, Facebook

STAMFORD, Conn., Oct. 13, 2022 (GLOBE NEWSWIRE) -- Sema4 (Nasdaq: SMFR), a health insights company, is presenting research today on autism spectrum disorders (ASD) at the Child Neurology Society (CNS) Annual Meeting. The research underscores the positive outcomes of exome analysis for individuals with ASD, supporting the use of a broader genetic testing approach to reach a faster diagnosis. This study of almost 19,000 individuals is one of the few to examine the genetic basis of autism and current guidelines around screening and testing.

Key Points: 
  • This study of almost 19,000 individuals is one of the few to examine the genetic basis of autism and current guidelines around screening and testing.
  • The study evaluated exome analysis for individuals with ASD against current testing methods and provided proof points that exome sequencing should be a first-tier test for ASD.
  • The median ages at testing in this analysis were 6.4 and 8.4 years for both isolated and syndromic ASD; exome sequencing provided higher diagnostic rates of 7.9-21%.
  • Additionally, this study revealed a high number of emerging genes not previously connected to autism.

Scientists Engineer DNA "Receipt Book" To Store Cells' History

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Wednesday, July 27, 2022
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SAN FRANCISCO, July 27, 2022 /PRNewswire/ -- If you want to track a person's activities for a day, you could call them up every ten minutes and ask what they're doing. Easier, though, would be to provide them with a journal to log their own actions. Scientists often rely on a method akin to the first to track how cells change over time; they pick cells out of a group at set time points and take a snapshot of their genetic activity.

Key Points: 
  • "In addition to providing a new tool for basic research, it lets us engineer cells to be living biosensors that can record changes to their environment."
  • Shipman and his colleagues wanted to engineer a system that would automatically record every time a particular gene was turned on.
  • Shipman has long been interested in the use of DNA to store datain 2017, he encoded a movie into the DNA of living bacteria so DNA was a natural medium for the cellular logbook.
  • "DNA is a flexible data storage medium in which you can really encode whatever you want," says Shipman.

Study of More Than 18,000 Patients Finds Exome Sequencing Delivers Higher Diagnostic Rates for Autism Spectrum Disorders

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Tuesday, April 26, 2022
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GAITHERSBURG, Md., April 26, 2022 /PRNewswire/ -- GeneDx, LLC, a leader in genomic analysis, today unveiled new data demonstrating positive outcomes of exome analysis for individuals with autism spectrum disorders (ASD), supporting the use of a broader genetic testing approach to diagnose ASD. This retrospective study is one of the few to examine the genetic basis of autism and current guidelines around screening and testing and is among the largest studies of genetic testing in ASD.

Key Points: 
  • Results demonstrate that exome analysis provides higher diagnostic rates of 7.9-21.0% and shorter diagnosis wait times than traditional testing strategies, including Fragile X (FMR1) and array CGH.
  • Importantly, this study revealed a high number of emerging genes not previously connected to autism.
  • This further supports the use of exome analysis for the discovery and understanding of genes associated with ASD.
  • We will work tirelessly to help ensure all patients have access to exome, which is a more definitive tool."

Scientists Reveal "Rosetta Stone" of Immune Cell Function

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Friday, February 4, 2022
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Now, researchers at Gladstone Institutes and UC San Francisco (UCSF) have adapted the CRISPRa system to human immune cells.

Key Points: 
  • Now, researchers at Gladstone Institutes and UC San Francisco (UCSF) have adapted the CRISPRa system to human immune cells.
  • This new tool gives them a more thorough and rapid way to discover genes that play a role in immune cell biology than previously possible.
  • "These CRISPRa experiments create a Rosetta Stone for understanding which genes are important for every function of immune cells.
  • The scientists activated each gene in the genome in different cells, enabling them to test almost 20,000 genes in parallel.

Researchers Pioneer New Method to Edit Genes in Human Cells

Retrieved on: 
Wednesday, January 5, 2022
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Now, researchers at Gladstone Institutes have fine-tuned an additional system for more efficient gene editing, using molecules called retrons.

Key Points: 
  • Now, researchers at Gladstone Institutes have fine-tuned an additional system for more efficient gene editing, using molecules called retrons.
  • Retrons, the group reported in the journal Nature Chemical Biology, can be optimized for efficiency and used to edit genes in a variety of cell types, from fungi to human cells.
  • "We can make precise modifications to genes more easily, quickly, and efficiently than with current approaches."
  • That template DNA is normally produced in the lab and then introduced to cells from the outside.

Wiley's Diversity in Tech Webinar Series Presents "Supporting Neurodiverse Talent in Tech"

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Thursday, October 21, 2021
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NEW YORK, Oct. 21, 2021 /PRNewswire/ --" Women of Color in Tech " author Susanne Tedrick will be moderating a discussion on neurodiversity in the tech industry titled "Supporting Neurodiverse Talent in Tech", taking place on Thursday, October 28, 2021 at 2:00 PM ET.

Key Points: 
  • NEW YORK, Oct. 21, 2021 /PRNewswire/ --" Women of Color in Tech " author Susanne Tedrick will be moderating a discussion on neurodiversity in the tech industry titled "Supporting Neurodiverse Talent in Tech", taking place on Thursday, October 28, 2021 at 2:00 PM ET.
  • Registration for the webinar is free and is available on the Bizzabo platform .
  • Maria Adler has been with the Simons Foundation since 2002 and served as the foundation's Chief Financial Officer for 14 years.
  • Nina is an accomplished accessibility executive with 10 years of experience across the tech industry.

FAST and SFARI to launch International Angelman Syndrome Research Council (INSYNC-AS)

Retrieved on: 
Friday, February 19, 2021
Branches of biology, Neurological disorders, Health, Clinical medicine, Learning disabilities, Psychiatric diagnosis, Simons Foundation Autism Research Initiative, Angelman syndrome, Developmental neuroscience, Neurodevelopmental disorder

DOWNERS GROVE, Ill., Feb. 19, 2021 (GLOBE NEWSWIRE) -- FAST (Foundation for Angelman Syndrome Therapeutics) and the Simons Foundation Autism Research Initiative (SFARI) today announced a collaboration to launch the International Angelman Syndrome Research Council (INSYNC-AS).

Key Points: 
  • DOWNERS GROVE, Ill., Feb. 19, 2021 (GLOBE NEWSWIRE) -- FAST (Foundation for Angelman Syndrome Therapeutics) and the Simons Foundation Autism Research Initiative (SFARI) today announced a collaboration to launch the International Angelman Syndrome Research Council (INSYNC-AS).
  • Using a robust integrated approach, the Council will evaluate and drive research initiatives in Angelman syndrome (AS) and other neurodevelopmental disorders (NDDs).
  • FAST (Foundation for Angelman Syndrome Therapeutics) is a Section 501(c)(3) nonprofit research organization singularly focused on funding research that holds the greatest promise of treating Angelman syndrome.
  • Since its launch in 2006, SFARI has supported over 550 investigators doing autism-related research in the U.S. and abroad.