#AI tools fast-track non-coding variant interpretation
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Mindich CHDI retweeted
New research led by scientists from the Seaver Autism Center for Research and Treatment at Mount Sinai, published in Autism Research, has estimated that Phelan-McDermid syndrome (PMS) affects approximately 1 in 7,300 people, making it dramatically more common than previous estimates suggested.
Phelan-McDermid syndrome is a rare genetic condition that can cause a wide range of medical, intellectual, and behavioral challenges. The majority of patients also meet the criteria for autism spectrum disorder. The study analyzed data from nearly 180,000 individuals with autism who underwent genetic testing across ten independent sources, and found that thousands of individuals with the condition are likely undiagnosed, in large part due to underutilization of genetic testing.
The findings arrive at a pivotal moment, with multiple Phelan-McDermid syndrome clinical trials now underway.
Read more: mshs.co/4iJwwVY
#Autism #PhelanMcDermidSyndrome #GeneticTesting #Research
Youth-associated protein reverses #age-related #microglial changes in #mice
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7 Top Questions About #PMOS & #Pregnancy
Andrea Dunaif, MD, discusses the top questions women have about PMOS and pregnancy.
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Indoor #Air #Pollution & #Children’s Health: Tips for Healthier Breathing at Home
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Forever #chemicals’ linked to gut #inflammation in #children after early #exposure
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#Genetic Testing Reveals That #Autism-Linked Syndrome Is More Common Than Previously Thought
Learn more here: bit.ly/3T6TMTk
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Patient-derived mini #brains reveal mechanism and treatment for rare #genetic disease
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Study connects common #chemicals to preterm #births, other health risks
Learn more: thenewlede.org/2026/06/commo…
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Childhood #egg #allergies fall as early introduction becomes more common, new study finds
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Researchers uncover a substantial #genetic component to #postpartum #psychosis
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Psychotropic Prescribing in #Pregnancy: Balancing Teratogenic Risk and Relapse Prevention
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Liver and Muscle Cells Influence #Immunity Following #mRNA #Vaccination
Learn more here: bit.ly/48MsfLS
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Joseph Buxbaum, PhD, discusses his research on the potential connection between #autism and #Alzheimer’s.
Learn more here: bit.ly/4t4iobv
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Icahn School of Medicine at Mount Sinai Awarded $8.2 Million #NIH Grant to Investigate the Origins of Blood-Forming #Stem #Cells
Read more: bit.ly/4sTTlJ5
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