The article describes the emergence of research programmes, institutions and activities of the early protagonists in the field of psychiatric genetics: Ernst Rüdin in Munich, Eliot Slater in London, Franz Kallmann in New York and Erik Essen-Möller in Lund. During the 1930s and well into the Nazi period, the last three had been research fellows at the German Research Institute for Psychiatry in Munich. It is documented that there was a continuous mutual exchange of scientific ideas and practices between these actors, and that in all four contexts there were intrinsic relations between eugenic motivations and genetic research, but with specific national adaptations.
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http://dx.doi.org/10.1177/0957154X18808666 | DOI Listing |
Hum Mol Genet
January 2025
Department of Cell & Developmental Biology, Vanderbilt University School of Medicine, 1161 21st Ave S, Nashville, Tennessee, 37232, United States of America.
Tuberous Sclerosis Complex (TSC) is a debilitating developmental disorder characterized by a variety of clinical manifestations. While benign tumors in the heart, lungs, kidney, and brain are all hallmarks of the disease, the most severe symptoms of TSC are often neurological, including seizures, autism, psychiatric disorders, and intellectual disabilities. TSC is caused by loss of function mutations in the TSC1 or TSC2 genes and consequent dysregulation of signaling via mechanistic Target of Rapamycin Complex 1 (mTORC1).
View Article and Find Full Text PDFClin Park Relat Disord
January 2025
Cerebrovascular Unit Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy.
CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary small vessel disease caused by mutations in the NOTCH3 gene, characterized by recurrent strokes, cognitive decline, and psychiatric symptoms. This report presents a novel NOTCH3 c.1564 T > A (p.
View Article and Find Full Text PDFGenet Epidemiol
March 2025
Department of Social and Preventive Medicine, Laval University, Quebec City, Quebec, Canada.
A large proportion of genetic variations involved in complex diseases are rare and located within noncoding regions, making the interpretation of underlying biological mechanisms a daunting task. Although technical and methodological progress has been made to annotate the genome, current disease-rare-variant association tests incorporating such annotations suffer from two major limitations. First, they are generally restricted to case-control designs of unrelated individuals, which often require tens or hundreds of thousands of individuals to achieve sufficient power.
View Article and Find Full Text PDFJ Neuropsychol
January 2025
Department of Health, Medical and Neuropsychology, Leiden University, Leiden, The Netherlands.
Up to 45% of patients with Parkinson's disease (PD) experience impulse control disorders (ICDs), characterized by a loss of voluntary control over impulses, drives or temptations. This study aimed to investigate whether previously identified genetic and psychiatric risk factors interact towards the development of ICDs in PD. A total of 278 de novo PD patients (ICD-free at enrollment) were selected from the Parkinson's Progression Markers Initiative database.
View Article and Find Full Text PDFNat Hum Behav
January 2025
Department of Economics, School of Business and Economics, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.
We conducted a genome-wide association study on income among individuals of European descent (N = 668,288) to investigate the relationship between socio-economic status and health disparities. We identified 162 genomic loci associated with a common genetic factor underlying various income measures, all with small effect sizes (the Income Factor). Our polygenic index captures 1-5% of income variance, with only one fourth due to direct genetic effects.
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