Through a parent’s search for answers and internet connectivity, a DYRK1A Syndrome Family Meetup — the fourth of its kind in the United States — took place in Seattle on June 22, 2019. The meeting provided support for 32 families of people with rare mutations in DYRK1A, a high-confidence autism risk gene, as well as information for scientists trying to grasp the gene’s role in brain development and function.
Last summer, the FamilieSCN2A Foundation held their biennial SCN2AProfessional and Family meeting, in Seattle, Washington. The gathering brought together 37 families of individuals with mutations in the SCN2A gene, 60 scientists, eight clinicians and five industry groups. These meetings help families connect with others similarly affected as well as professionals working to better understand these conditions — which include epilepsy and autism — and develop new therapeutics.
Read this story at SFARI.
Negative results in recent trials of vitamin D supplementation have led researchers to question the best way of reaching those who are deficient.
Read this story at Pharmaceutical Journal.
In the late 1960s an international contingent of psychiatrists took up a monumental task: making schizophrenia mean the same thing to doctors around the world.
Read this story at Distillations.
What are the earliest signs of autism? Do signs differ between genetically defined autism subtypes? What are cognitive milestones of early development for all children? Is there a way to study these aspects in animal models of autism?
These and other questions surfaced throughout a SFARI-sponsored workshop entitled “Next Steps in Infancy Research on Autism,” held on April 18, 2019. The workshop brought together 12 experts, including those who study child development but not autism, as well as clinicians, geneticists and epidemiologists. The ensuing conversations — part research updates, part brainstorms — touched on measurable aspects of infant development that might be sensitive enough, reliable enough and easy enough to use to help detect, parse and model autism.
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Dan Feldman, a professor at the University of California, Berkeley, studies the rodent somatosensory cortex, which is famous for its organized groupings of neurons, called ”barrels.” There, his lab has been testing an influential idea about autism: the excitatory-inhibitory (E-I) imbalance hypothesis. This proposes that an excess of excitatory signaling relative to inhibitory signaling in the brain leads to symptoms of autism.
In a recent paper, Feldman’s lab found evidence for the E-I imbalance hypothesis, but not exactly in the way many expected: the changes appeared to reflect a compensation for some other problem in the circuit, rather than a primary deficit causing circuit hyperexcitability. I recently spoke with Feldman to discuss these findings and what they might mean for therapeutic approaches aimed at restoring inhibition in autism.
Read this story at SFARI.org.
The use of fish oils to improve cardiovascular health has been in and out of favour for decades, but positive results from a recent trial of Amarin’s Vascepa have created quite a stir — particularly as they come after a set of negative findings in 2018.
Read this story at Pharmaceutical Journal.
As obesity levels rise, pharmacists need new methods to help them get dosing right.
Read this story at Pharmaceutical Journal.
First described 200 years ago, Parkinson’s disease remains without a cure. After many failed clinical trials, researchers are getting back to basics to try to gain a better understanding of the challenges, and a new generation of treatment ideas are now in clinical trials, some of which aim to stall progression of the disease.
Read this story at Pharmaceutical Journal.
Pinpointing where healthy brain aging leaves off and dementia begins is difficult. Is a slip in memory an expected outcome for a too-busy person or a warning of something else? If an empty-nester loses the motivation to cook, is it a sign that the person is enjoying retirement after a lifetime spent cooking or an early sign of a cognitive decline?
Now, experts are now turning to computerized tools to detect dementia in earlier stages. Early detection might bring more successful clinical trials for treatments, which, by and large, have failed for full-blown dementia; at the very least, early detection helps people prepare for what is to come.
Read this story at IEEE Pulse.
