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#neurodevelopment

3 posts2 participants0 posts today

Interesting question about Neanderthal DNA and neurodiversity. #Neurodevelopment

nature.com/articles/s41380-024

NatureEnrichment of a subset of Neanderthal polymorphisms in autistic probands and siblings - Molecular PsychiatryHomo sapiens and Neanderthals underwent hybridization during the Middle/Upper Paleolithic age, culminating in retention of small amounts of Neanderthal-derived DNA in the modern human genome. In the current study, we address the potential roles Neanderthal single nucleotide polymorphisms (SNP) may be playing in autism susceptibility in samples of black non-Hispanic, white Hispanic, and white non-Hispanic people using data from the Simons Foundation Powering Autism Research (SPARK), Genotype-Tissue Expression (GTEx), and 1000 Genomes (1000G) databases. We have discovered that rare variants are significantly enriched in autistic probands compared to race-matched controls. In addition, we have identified 25 rare and common SNPs that are significantly enriched in autism on different ethnic backgrounds, some of which show significant clinical associations. We have also identified other SNPs that share more specific genotype-phenotype correlations but which are not necessarily enriched in autism and yet may nevertheless play roles in comorbid phenotype expression (e.g., intellectual disability, epilepsy, and language regression). These results strongly suggest Neanderthal-derived DNA is playing a significant role in autism susceptibility across major populations in the United States.

A gene that does not code for protein has been identified as the cause of a serous neurodevelopmental disorder.

“Nowadays, finding a single gene that harbors genetic variants responsible for tens of thousands of patients with a rare disease is exceptionally unusual. Our discovery eluded researchers for years due to various sequencing and analytical challenges,” noted Daniel Greene, PhD.

#genetics #research #science #health #biology #neurodevelopment

labroots.com/trending/genetics

LabrootsA Neurodevelopmental Disorder Affecting Thousands is Discovered | Genetics And GenomicsFor decades, the study of genetic disease was focused on genes that code for protein. But scientists have now identified a novel neurodevelopmental disorder | Genetics And Genomics

In neuroscience is at a critical crossroad: the potential overdiagnosis of neurodevelopmental disorders. It’s time we acknowledge human neurodiversity. Not every deviation from the ‘norm’ warrants a label. We must tread carefully, respecting the natural diversity of brain development. By doing so, we can protect individuals from the unintended consequences of overdiagnosis—be it unnecessary treatment or unwarranted stigma.
#Neurodiversity #BeyondLabels #Neurodevelopment

frontiersin.org/journals/neuro