Carlo Cadenas
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Advances in genetic medicine took center stage at INSAR
The president of the Autism Science Foundation and parent of a child with profound autism reflects on how advances in the treatment of rare gene variants bring hope to many families.
Advances in genetic medicine took center stage at INSAR
Genome structure could be key factor in some forms of autism
Variants in DNA stretches that do not code for proteins may alter the genome’s 3D architecture, influencing the expression of distant genes linked to autism.
Genome structure could be key factor in some forms of autism
‘Polygenic risk scores’ for autism, explained
These scores — composite measures of a person’s autism-linked common genetic variants — cannot predict an autism diagnosis but could help researchers better understand the condition’s underlying biology.
‘Polygenic risk scores’ for autism, explained
‘Dosage sensitivity map’ predicts active ingredients in copy number variants
The catalog of rare copy number variants tied to autism and other conditions could help researchers identify which genes account for the mutations’ effects.
‘Dosage sensitivity map’ predicts active ingredients in copy number variants
Deletions on chromosome 22 have ripple effects across genome
Deletion of the 22q11.2 chromosomal region alters the expression of numerous autism- and schizophrenia-linked genes, most of which are not contained within the deleted region, a new study suggests.
Deletions on chromosome 22 have ripple effects across genome
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Crise de financiamento na Argentina desencadeia nova onda de protestos
Dois anos após o colapso do financiamento à pesquisa no país, cientistas estão protestando contra a omissão do governo em restabelecer bolsas que haviam sido cortadas e aumentar os salários, conforme exigido por uma lei de 2025.
Crise de financiamento na Argentina desencadeia nova onda de protestos
Dois anos após o colapso do financiamento à pesquisa no país, cientistas estão protestando contra a omissão do governo em restabelecer bolsas que haviam sido cortadas e aumentar os salários, conforme exigido por uma lei de 2025.
O que as sanguessugas revelam sobre o movimento
Lidia Szczupak recorreu a esses animais para investigar como o sistema nervoso coordena o movimento.
O que as sanguessugas revelam sobre o movimento
Lidia Szczupak recorreu a esses animais para investigar como o sistema nervoso coordena o movimento.
Lo que las sanguijuelas revelan sobre movimiento
Lidia Szczupak recurrió a los animales para explorar cómo el sistema nervioso coordina el movimiento.
Lo que las sanguijuelas revelan sobre movimiento
Lidia Szczupak recurrió a los animales para explorar cómo el sistema nervioso coordina el movimiento.