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News, Literature, and Events in Braingenethics
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Braingenethics 

Update 

 

Vol. 7, No. 5 
May 2020

braingenethics.cumc.columbia.edu/

In the Literature

Psychosocial Implications of Living with Familial Risk of a Psychiatric Disorder and Attitudes to Psychiatric Genetic Testing: A Systematic Review of the Literature
Bettina Meiser et al.
This systematic review reveals a strong interest in adult psychiatric genetic testing, with study participants asserting the belief that a genetic explanation will lead to less stigma of mental illness. Future studies should assess the effects of such information on actual behavior and psychological outcomes.

Genome-Wide Meta-Analysis of Problematic Alcohol Use in 435,563 Individuals Yields Insights into Biology and Relationships With Other Traits
Hang Zhou et al. 
In this large proxy-phenotype meta-analysis of problematic alcohol use, novel risk loci and genetic relationships with numerous other traits are identified, including substance use, psychiatric status, risk-taking behavior and cognitive performance.
 
Personalized Medicine in Genetic Epilepsies – Possibilities, Challenges, and New Frontiers
Ingo Helbig and Colin A. Ellis
Precision medicine offers a promising avenue for tailoring anti-seizure medications to epilepsy patients’ characteristics. Although phenotypic heterogeneity complicates clinical trials, electronic medical records and phenotyping languages provide novel opportunities for progress.

More in the Literature

Insufficient Evidence for “Autism-Specific” Genes
Scott M. Myers et al.
Recent research seeks to establish a relationship between rare genetic variants and autism spectrum disorder. However, the authors posit that the evidence is insufficient to directly implicate specific genes in its development.

Clinical Genetic Testing in Autism Spectrum Disorder in a Large Community-Based Population Sample
Daniel Moreno-De-Luca et al.
From self-report and medical record data from people with autism spectrum disorder (ASD), only three percent of participants with ASD report having the recommended clinical genetic testing, highlighting a dissonance between professional recommendations and clinical practice.

Assessment of Genetic Association Between Parkinson Disease and Bipolar Disorder
Sara Bandres-Ciga et al.
Despite the higher prevalence of Parkinson disease among individuals with Bipolar disorder, genome-wide association studies find no genetic link between the two conditions.

De Novo Gene Variants and Familial Bipolar Disorder
Claudio Toma et al.
While studies have implicated the genetic liability of de novo variants (DNVs) in autism and schizophrenia, whole genome sequencing of 18 multiplex bipolar families reveals that DNVs are also contributors to the mutational load in bipolar disorder, as well.

Mosaic Somatic Gene Recombination as a Potentially Unifying Hypothesis for Alzheimer’s Disease
Gwendolyn E. Kaeser and Jerold Chun
In this review, the authors explain why somatic gene recombination could explain the pathogenesis of Alzheimer’s disease as well as the failure of amyloid-related clinical trials.

In the Media

COVID-19 and the Harsh Reality of Empathy Distribution
Peter Sterling
In this Scientific American piece, empathy is compared to height and other complex traits that are influenced by both genetic and environmental factors. Given the distribution of empathy, the author encourages acceptance and understanding with respect to the variation in public responses to COVID-19 and social distancing measures.

Alzheimer’s Gene Linked to Higher Risk of Severe COVID-19
Jef Akst
APOE ε4, the gene variant that confers a greater risk for the development of Alzheimer’s disease, also has a link to COVID-19, according to a genetic study conducted from UK Biobank data.
Genetics and Social Science
Recent developments in genetics provide social scientists with a powerful new toolbox to better understand the environmental effects of behavioral and socioeconomic outcomes. In "Using Genetics for Social Science," authors K. Paige Harden & Philipp D. Koellinger examine how medical research can benefit from genetic insights into social-scientific outcomes, and vice versa. They discuss the ethical challenges of this work and clarify several common misunderstandings and misinterpretations of genetic research on individual differences.

More in the Media

Environmental Factors Don’t Explain Rise in Autism Prevalence
Peter Hess
In a twin cohort study design spanning three decades, a recent article featured in JAMA Psychiatry supports a growing consensus that genetic factors play a larger role than environmental factors in the occurrence of autism spectrum disorder (ASD) and are thus unlikely to explain its increase in prevalence.

Rare Mutations in Autism Genes Tied to Intellectual Disability
Giorgia Guglielmi
Autistic people who have rare mutations in autism genes tend to have lower intelligence quotients (IQs) than those with common mutations, according to a new study published in Journal of Medical Genetics.

Study Identifies Group of Genes with Altered Expression in Autism
EurekAlert
Regardless of the DNA mutations in any autistic individual, a new study points to a common gene expression profile and functional dysregulation. While progress has been hindered by mutational variability, these results may lead to the enhanced genetic diagnosis and treatment of autism spectrum disorder.

Alzheimer’s Gene Contributes to Blood-brain Barrier Breakdown
Sharon Reynolds
While the APOE ε4 allele is known to contribute to the formation of beta-amyloid plaques and tau tangles, a neuroimaging study finds that older adults with one or more APOE ε4 copies had increased breakdown of the blood-brain barrier in areas important for memory and cognition.

Brain Proteins May Mediate Effects of Genetic Variants on Some Neurological Phenotypes
GenomeWeb
While signals from genome-wide association studies are often difficult to interpret, recent research suggests that human proteome data could provide an opportunity to unravel the causal pathways underlying psychiatric and neurological phenotypes, including Alzheimer disease, depression, intelligence, and neuroticism.

New Research Sheds Light on Sex Imbalances in Diseases like Schizophrenia and Lupus
Meghana Keshavan
This STAT article explores the implications of genetic research featured in Nature regarding sex discrepancies observed in lupus, Sjögren’s syndrome, and schizophrenia. The inverse relationship between the occurrence of schizophrenia and autoimmune conditions seems to be exacerbated by copy number variation of C4 among the sexes.
Upcoming Events
Virtual ELSI Forum - 30 Years of the Genome: Integrating and Applying ELSI Research
Hosted by Columbia University
June 15th-16th  
Free, but registration required here: https://elsicon2020.exordo.com/

Conference on Polygenic Prediction in Psychiatry
Video Recordings: http://braingenethics.cumc.columbia.edu/polygenic-prediction-in-psychiatry-an-online-public-conference/
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