Autism genetics is a fascinating area. Genomic variants certainly play some roles in some forms of the condition, but they haven’t been easy to pin down convincingly.
A recent Nature Genetics paper, Decomposition of phenotypic heterogeneity in autism reveals underlying genetic programs, provides some new insights into the types of genes that may impact the development of autism and how it manifests.
They “describe four data-driven classes of autism” The outwardly apparent heterogeneity in people with autism is linkable at least in part to variability in genetic programs in the four groups.
Environmental exposures including in utero are also important here too and highly complex on their own. But they also interact with genetic factors too.
A better understanding of all of these dense interconnected layers of mechanisms in theory could help some people with autism in concrete ways. For instance, it’s possible that care for those who seek it out will vary by group.
Research teams that have been trying to find effective autism “treatments”, efforts that have struggled so much including in the cell therapy space, might determine that some approaches could benefit one group but not others. I put “treatment” in quotes because there also has been concern over a “cure” mantra about autism including from some researchers.
More recommended reads
- Autologous haematopoietic stem cell transplantation for multiple sclerosis in the UK: A 20- year retrospective analysis of activity and haematological outcomes from the British Society of Blood and Marrow Transplantation and Cellular Therapy (BSBMTCT), Transplantation & Cellular Therapy. Evidence supporting HSCT for MS, at least some forms of the disease, continues to grow.
- FDA rejects Capricor’s cell therapy for Duchenne muscular dystrophy, STAT News. This is an interesting decision by CBER. In theory it suggests a commitment by the biologics branch to requiring very robust clinical trial data. On the other hand, the agency more generally has said positive things about N=1 data and “real-world” data recently. It feels like some mixed messaging. I’m still very curious to see how Prasad and Makary handle a bid by ALS patients for FDA approval of Nurown from BrainStorm Cell Therapeutics.
- TET2-mutant myeloid cells mitigate Alzheimer’s disease progression via CNS infiltration and enhanced phagocytosis in mice, Cell Stem Cell. It feels like so much recent research is pointing toward a failure to maintain the normal cleaning systems of the brain.
- Jawbone-like organoids generated from human pluripotent stem cells, Nat Bio Engineer.
- Identification of proliferating neural progenitors in the adult human hippocampus, Science. Do you think adult human neurogenesis is a real thing and has some impact on the brain?
- How old are you really? Are the latest ‘biological age’ tests all they’re cracked up to be? The Conversation. One of the key take-homes from this overview is that these tests probably don’t really work now for accurately assessing individuals’ biological ages. I’ve written regularly about what I see as health flexing based on test results from these assays.
- NIH announces end to funding for animal-only studies, Drug Disc & Dev. It’s still unclear how much this will impact NIH funding. Will they no longer fund just mouse knockout studies if there’s no human component to the proposal? Biomedical research is in chaos in the U.S. now.