Article
Genetics & Heredity
Solveig Heide, Marie-Line Jacquemont, David Cheillan, Michel Renouil, Marilyn Tallot, Charles E. Schwartz, Juliette Miquel, Marc Bintner, Diana Rodriguez, Francoise Darcel, Julien Buratti, Damien Haye, Sandrine Passemard, Domitille Gras, Laurence Perrin, Yline Capri, Benedicte Gerard, Amelie Piton, Boris Keren, Christel Thauvin-Robinet, Yannis Duffourd, Laurence Faivre, Charlotte Poe, Anne Perville, Delphine Heron, Julien Thevenon, Lionel Arnaud, Eric LeGuern, Lorita La Selva, Annalisa Vetro, Renzo Guerrini, Caroline Nava, Cyril Mignot
Summary: Biallelic loss-of-function variants in ST3GAL5 cause GM3 synthase deficiency (GM3SD) responsible for Amish infantile epilepsy syndrome. In this study, we analyzed clinical and molecular data from 16 non-Amish patients with pathogenic ST3GAL5 variants resulting in GM3SD. We identified 6 ST3GAL5 variants, 5 of which were novel. All patients exhibited severe to profound intellectual disability, hyperkinetic movement disorder, epilepsy, and microcephaly, along with other characteristic symptoms.
GENETICS IN MEDICINE
(2022)
Article
Genetics & Heredity
Heather A. Bruce, Peter Kochunov, Joshua Chiappelli, Anya Savransky, Kathleen Carino, Jessica Sewell, Wyatt Marshall, Mark Kvarta, Francis J. McMahon, Seth A. Ament, Teodor T. Postolache, Jeff O'Connell, Alan Shuldiner, Braxton Mitchell, L. Elliot Hong
Summary: Sleep is essential and regulated by genetics, but also influenced by health, environment, stress, and mood. The study found that genetics play a significant role in sleep features, but stress, mood disorder, and environmental factors can also impact sleep quality, highlighting the complexity of genetic studies of sleep.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
(2021)
Article
Biochemistry & Molecular Biology
Jing Tang, Xianglu Wu, Minjie Mou, Chuan Wang, Lidan Wang, Fengcheng Li, Maiyuan Guo, Jiayi Yin, Wenqin Xie, Xiaona Wang, Yingxiong Wang, Yubin Ding, Weiwei Xue, Feng Zhu
Summary: This study focuses on the impact of environmental factors on microbial community composition, highlighting the roles of host factors in shaping human microbiota. Host factors are categorized into host genetic factors (HGFs) and host immune factors (HIFs), with a database called 'GIMICA' established to collect and organize these factors for comprehensive health management. By providing information on how these factors define the landscapes inhabited by microbiota, the database allows for a holistic consideration of different types of host factors as well as the interactions between host and environmental factors.
NUCLEIC ACIDS RESEARCH
(2021)
Article
Social Work
Jeanette Harder, Sara W. Bharwani, Jodi Gabel
Summary: This study explores the motivations, experiences, and characteristics of Plain Anabaptist families who provide foster care. The findings support the recommendation for child welfare systems to consider these families as potential foster caregivers.
JOURNAL OF PUBLIC CHILD WELFARE
(2023)
Article
Biology
May E. Montasser, Stella Aslibekyan, Vinodh Srinivasasainagendra, Hemant K. Tiwari, Amit Patki, Minoo Bagheri, Tobias Kind, Dinesh Kumar Barupal, Sili Fan, James Perry, Kathleen A. Ryan, Alan R. Shuldiner, Donna K. Arnett, Amber L. Beitelshees, Marguerite Ryan Irvin, Jeffrey R. O'Connell
Summary: This study identified lipid species associated with rare population alleles through a genome-wide association scan of a founder population. The findings highlight the power of founder populations and detailed lipidomics in discovering novel trait-associated variants.
COMMUNICATIONS BIOLOGY
(2022)
Article
Biotechnology & Applied Microbiology
Antonio Pedro Camargo, Simon Roux, Frederik Schulz, Michal Babinski, Yan Xu, Bin Hu, Patrick S. G. Chain, Stephen Nayfach, Nikos C. Kyrpides
Summary: This article introduces a classification and annotation framework called geNomad, which can identify and characterize mobile genetic elements in sequencing data using information from gene content and a deep neural network. It achieves high classification performance and precision.
NATURE BIOTECHNOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Elizabeth M. Humphries, Kwangmi Ahn, Rachel L. Kember, Fabiana L. Lopes, Evelina Mocci, Juan M. Peralta, John Blangero, David C. Glahn, Fernando S. Goes, Peter P. Zandi, Peter Kochunov, Cristopher Van Hout, Alan R. Shuldiner, Toni I. Pollin, Braxton D. Mitchell, Maja Bucan, L. Elliot Hong, Francis J. McMahon, Seth A. Ament
Summary: By conducting a genome-wide association study of mood disorders in a founder population, the Old Order Amish, four significant risk loci were identified, all of which were associated with more than a 2-fold relative risk. Further assessments revealed effects of these risk variants on sub-clinical depressive symptoms and information processing speed. Network analysis suggested that these risk loci may harbor novel risk-associated genes, which interact with known neuropsychiatry-associated genes through gene interaction networks. Annotation of the variants at these risk loci revealed enrichment of non-synonymous variants in two genes encoding neurodevelopmental transcription factors, CUX1 and CNOT1. These findings provide valuable insights into the genetic architecture of mood disorders and serve as a foundation for mechanistic and clinical studies.
MOLECULAR PSYCHIATRY
(2023)
Article
Genetics & Heredity
Katie B. Williams, Michael R. Lasarev, Mei Baker, Christine M. Seroogy
Summary: Amish and Mennonite communities have increased prevalence of recessively inherited disorders due to founder variants. A survey conducted in Wisconsin Plain communities revealed that Mennonites were more in favor of carrier screening for metabolic disorders and other surgical conditions, while less in favor of asymptomatic testing for neurologic and lethal disorders. The survey responses also indicated diversity in views towards genetic testing among Plain community members.
JOURNAL OF COMMUNITY GENETICS
(2023)
Article
Genetics & Heredity
Sara Zoran, Grace Anbouba, Qianqian Zhao, Anne Harris, Katie B. Williams, Jessica Scott Schwoerer
Summary: The Plain Community is a medically underserved group in the US, and they face significant barriers in accessing healthcare. A collaboration between rural and academic clinics in Wisconsin established an outreach clinic for medical genetics, but patients with urgent genetic care still need to travel to the academic center. Telemedicine was explored as a potential solution to provide genetic services to the Plain Community, and the survey results showed positive responses from participants, especially from the Mennonite community.
JOURNAL OF COMMUNITY GENETICS
(2022)
Article
Psychiatry
Aileen Tielke, Helena Martins, Michael A. Pelzl, Anna Maaser-Hecker, Friederike S. David, Celine S. Reinbold, Fabian Streit, Lea Sirignano, Markus Schwarz, Helmut Vedder, Jutta Kammerer-Ciernioch, Margot Albus, Margitta Borrmann-Hassenbach, Martin Hautzinger, Karola Huenten, Franziska Degenhardt, Sascha B. Fischer, Eva C. Beins, Stefan Herms, Per Hoffmann, Thomas G. Schulze, Stephanie H. Witt, Marcella Rietschel, Sven Cichon, Markus M. Noethen, Gerhard Schratt, Andreas J. Forstner
Summary: This study suggests that specific microRNAs, particularly miR-137, miR-499a, miR-708, miR-1908, and miR-2113, may contribute to the development of bipolar disorder (BD). Dysregulation of MIR499A may play a role in BD development. Further research is needed to understand the impact of the MIR499A regulatory network on BD susceptibility.
TRANSLATIONAL PSYCHIATRY
(2022)
Review
Genetics & Heredity
Sami Bizzari, Pratibha Nair, Asha Deepthi, Sayeeda Hana, Mahmoud Taleb Al-Ali, Andre Megarbane, Stephany El-Hayek
Summary: Lebanon has a high incidence of birth defects, mostly due to genetic factors. The CTGA database contains data on 642 genetic diseases and 676 related genes, with a preponderance of congenital malformations, deformations, and chromosomal abnormalities. About 65% of the reported disorders follow an autosomal recessive inheritance pattern, highlighting the need for screening programs.
Article
Family Studies
Angela M. Kueny, Lioness Ayres, Toni Tripp-Reimer
Summary: The article discusses the management strategies of Amish families with children with genetic conditions, highlighting the spectrum of these strategies from home-oriented to medical-oriented. It emphasizes the central role that families play in decision making and health care management for children with genetic conditions.
JOURNAL OF FAMILY NURSING
(2021)
Article
Religion
Katie E. Corcoran, Rachel E. Stein, Corey J. Colyer, Annette M. Mackay, Sara K. Guthrie
Summary: This study explores how governments across the globe restricted social life to slow the spread of COVID-19, and how conservative Protestant sects in the United States resisted these policies. It is argued that the country context likely shapes how conservative Protestants' moral worldview affects their perceptions of the pandemic and government restrictions, and how the environment may influence the expression of religious moral worldviews in public health interventions.
Article
Multidisciplinary Sciences
Martin A. Mensah, Henri Niskanen, Alexandre P. Magalhaes, Shaon Basu, Martin Kircher, Henrike L. Sczakiel, Alisa M. V. Reiter, Jonas Elsner, Peter Meinecke, Saskia Biskup, Brian H. Y. Chung, Gregor Dombrowsky, Christel Eckmann-Scholz, Marc Phillip Hitz, Alexander Hoischen, Paul-Martin Holterhus, Wiebke Huelsemann, Kimia Kahrizi, Vera M. Kalscheuer, Anita Kan, Mandy Krumbiegel, Ingo Kurth, Jonas Leubner, Ann Carolin Longardt, Joerg D. Moritz, Hossein Najmabadi, Karolina Skipalova, Lot Snijders Blok, Andreas Tzschach, Eberhard Wiedersberg, Martin Zenker, Carla Garcia-Cabau, Rene Buschow, Xavier Salvatella, Matthew L. Kraushar, Stefan Mundlos, Almuth Caliebe, Malte Spielmann, Denise Horn, Denes Hnisz
Summary: A study found that thousands of genetic variants in protein-coding genes are associated with diseases. However, the functional impact of these variants is largely unknown because they occur in poorly defined functional regions of intrinsically disordered proteins. It was discovered that certain disease-associated variants in intrinsically disordered regions alter phase separation, causing misplacement in the nucleolus and disrupting nucleolar function.
Article
Multidisciplinary Sciences
Payal Chandak, Kexin Huang, Marinka Zitnik
Summary: PrimeKG is a multimodal knowledge graph that integrates 20 high-quality resources to describe 17,080 diseases and their relationships across various biological scales. It contains abundant drug-disease edges that lack in other knowledge graphs and can support AI analyses of disease-associated networks.
