One Goal: More Personalized Care

Cell-El’s Precision Medicine series #3

This article is a review of: “Decomposition of phenotypic heterogeneity in autism reveals underlying genetic programs”.
Authors: Aviya Litman, Natalie Sauerwald, LeeAnne Green Snyder, et al.
Published online: Nature Genetics, July 2025.

A very large study categorized autistic children into four subgroups based on everyday behavior and development. Each subgroup presented with  their own distinct gene pattern. This discovery suggests that autism doesn’t come from a single pathway. This is a significant step towards improved personalized care for children on the autism spectrum.

What the researchers did

  • Looked at thousands of families in two major autism projects (SPARK and SSC).
  • Used 200+ common clinic/parent measures (communication, behavior, developmental history).
  • Let the data sort itself into four repeatable subgroups and then checked how these groups differed in their genetics.

The four subgroups each had its own genetic profile:

  1. Broadly affected – Wider developmental needs and more co-occurring issues.
  2. ASD + developmental delay – More language/motor delays, often identified earlier.
  3. Social/behavioral – More ADHD/anxiety/depression features; less global delay.
  4. Moderate challenges – An in-between profile.

Why this matters

  • Not one-size-fits-all: Subgroups help us see different needs and different kinds of biology.
  • Better care planning: Subgroups can guide which supports to start first and what to monitor.
  • Smarter research: Future treatments and trials can test what works best for each subgroup.

Key takeaways:

  • Autism shows several distinct patterns, not just one.
  • These patterns are clinically recognizable (based on tools and history clinics already in use).
  • The patterns also link to different biology, which may help match supports and future treatments more accurately.

Biomarkers, genetics and Cell-El

Genes are the body’s blueprints, but proteomic biomarkers measure the proteins that those genes set in motion—the real-time “machinery” of immune, metabolic, and brain-related pathways. So while genetics can hint at which pathways may matter for a subgroup, proteins can show what’s active right now in a child’s body. In theory, combining subgrouping from studies like this with simple blood-based protein readouts could help make evaluations more objective and, over time, guide more personalized choices about supports and future therapies. This is the direction Cell-El is exploring with its research.

In summary

This study shows that autism can be organized into a few clear subgroups that map to different underlying biology, opening the door to more precise care. Looking ahead, Cell-El is creating a blood-based proteomic biomarker test designed to add objective information to routine assessments.This may potentially allow for earlier and easier diagnostics, thereby supporting future personalized treatment decisions with a better understanding of which biological pathways are most active for each child.

Help Us Help You

Better diagnostics for ASD based on laboratory-measured objective biomarkers can possibly enable researchers and clinicians to provide more precise and personalized treatment. You too can make a difference in the lives of children with ASD and their families by joining the Cell-El study. Cell-El is recruiting mothers and their infants aged 10-18 months who have not been diagnosed with ASD but who have a sibling diagnosed with ASD.

Please contact Leah at [email protected] or fill out the form to find out about eligibility to participate in  our diagnostic study and please help spread the word about the Cell-El study. Sharing our study will enable our important biomarker diagnostic tool to be integrated into autism treatment as quickly as possible.