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Novel Brain Cell Organoids Show Promise for Autism Research

A novel approach for the creation of brain cell organoids and their use for studying autism is reported in Nature Communications this week, shedding new light on the mechanisms underlying the disorder. Organoids hold promise for modeling human brain development and disease in vitro but carry a number of limitations that hinder their use, such as inconsistent cellular composition, unpredictable organization, and slow developmental maturation. Aiming to overcome these issues, a team led by University of Utah scientists devised a new method for generating human cortico-striatal organoids from stem cell-derived single neural rosettes (SNRs) and show that they are predictably organized, functionally mature, and capable of establishing functional neural networks. The researchers use the organoids to investigate the cortico-striatal development and deficits caused by the deficiency of an autism- and intellectual disability-associated gene called SHANK3, identifying specific molecular pathways disrupted by hemizygous deletion of the gene. "We propose that SNR-derived organoids can be used as a tractable platform for studying human cortico-striatal development and deficits associated with human neurodevelopmental disorders," the study's authors write.

The Scan

UK Pilot Study Suggests Digital Pathway May Expand BRCA Testing in Breast Cancer

A randomized pilot study in the Journal of Medical Genetics points to similar outcomes for breast cancer patients receiving germline BRCA testing through fully digital or partially digital testing pathways.

Survey Sees Genetic Literacy on the Rise, Though Further Education Needed

Survey participants appear to have higher genetic familiarity, knowledge, and skills compared to 2013, though 'room for improvement' remains, an AJHG paper finds.

Study Reveals Molecular, Clinical Features in Colorectal Cancer Cases Involving Multiple Primary Tumors

Researchers compare mismatch repair, microsatellite instability, and tumor mutation burden patterns in synchronous multiple- or single primary colorectal cancers.

FarGen Phase One Sequences Exomes of Nearly 500 From Faroe Islands

The analysis in the European Journal of Human Genetics finds few rare variants and limited geographic structure among Faroese individuals.