Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis–Cacchione Syndrome and a Novel XPC Mutation by Esteban Uribe-Bojanini, Sara Hernandez-Quiceno, Alicia María Cock-Rada

“…Several genetic disorders caused by defective nucleotide excision repair that affect the skin and the nervous system have been described, including Xeroderma Pigmentosum (XP), De Sanctis–Cacchione syndrome (DSC), Cockayne syndrome, and Trichothiodystrophy. …”
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Whole exome analysis of primary immunodeficiency by E. S. Rahmani, Н. Azarpara, M. Karimipoor, Н. Rahimi

“…However, thanks to advancing in the DNA sequencing method and availability of sophisticated sequencers molecular characterization of genetic disorders have been revolutionized. The whole exome sequencing (WES) method can help clinicians detect Mendelian disease and other complex genetic disorders. …”
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Acute myocardial infarction with ST-segment elevation in young patient with Bardet – Biedl syndrome by I.M. Sichkaruk, O.V. Khrystyuk, M.Ye. Romaniv, O.A. Vasylkova, O.S. Kargol, M.M. Pavelko, A.V. Yagensky

“…Active treatment of all risk factors along with monitoring of laboratory parameters in adolescents and young men with metabolic disorders, especially obesity and genetic diseases accompanied by metabolic disorders, is a prerequisite for prevention of coronary artery disease and, in particular, MI at young age.…”
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Ensuring patient access to gene therapies for rare diseases: Navigating reimbursement and coverage challenges by Diane Berry, Carolyn Hickey, Lisa Kahlman, James Long, Christina Markus, Caitlin K. McCombs

“…By adopting a multifaceted approach, we can foster a more supportive environment for the sustainable delivery of gene therapies, significantly improving the lives of patients with rare genetic disorders while rewarding and driving continued innovation.…”
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Expanding the clinical spectrum of 19p13.3 microduplication syndrome: a case report highlighting nephrotic syndrome and literature review by Wenjie Sun, Hong Yan, Mengxin Sun, Jie Wang, Kunxia Li

“…However, patients with developmental delay, microcephaly, distinctive facial features, congenital heart defects, and urogenital system disorders may exhibit these manifestations due to various genetic syndromes; therefore, simply considering the possibility of 19p13.3 microduplication syndrome based on these non-specific features is not sufficient. …”
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Modifiable factors for irritable bowel syndrome: evidence from Mendelian randomisation approach by Jinling Tang, Zhirong Yang, Shanshan Wu, Feng Sha, Tengfei Lin, Di Liu, Meiling Cao, Yiwen Jiang, Weijie Cao, Fuxiao Li

“…Robust associations were found between multisite chronic pain and both IBS and coexisting disorders.Conclusions Our study identified a comprehensive array of potential modifiable factors and coexisting disorders associated with IBS, supported by genetic evidence, including genetic correlation and multiple MR analyses. …”
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Human immune system: Exploring diversity across individuals and populations by Kim Han Hoang Nguyen, Nghi Vinh Le, Phuc Hoang Nguyen, Hien Hau Thi Nguyen, Duy Mai Hoang, Chien Dinh Huynh

“…It has a distinct capacity to adjust and mould the immune response in accordance with specific stimuli, influenced by both genetic and environmental factors. The presence of genetic diversity, particularly across different ethnic and racial groups, significantly contributes to the impact of incidence of diseases, disease susceptibility, autoimmune disorders, and cancer risks in specific regions and certain populations. …”
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Self-beneficial transactional social dynamics for cooperation in Shwachman-Diamond syndrome: a mixed-subject analysis using computational pragmatics by Arthur Trognon, Arthur Trognon, Arthur Trognon, Natacha Stortini, Natacha Stortini, Coralie Duman, Coralie Duman, Nami Koïdé, Ewa Skupinska, Ewa Skupinska, Hamza Altakroury, Alizée Poli, Alizée Poli, Loann Mahdar-Recorbet, Loann Mahdar-Recorbet, Blandine Beaupain, Jean Donadieu, Michel Musiol, Michel Musiol, Michel Musiol

“…BackgroundShwachman-Diamond Syndrome (SDS) is a rare genetic disorder with documented cognitive and behavioral challenges. …”
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Exploring the Impact of Systemic Inflammatory Regulators on Rosacea Risk: A Bidirectional Mendelian Randomization Analysis by Xue Q, Pan JP, Qian D, Ji J, Fei LY, Yao S, Tan X, Fan WG

“…This study employed a two-sample bidirectional Mendelian randomization (MR) analysis to investigate the causal links between systemic inflammatory regulators and rosacea.Methods: Data on 41 cytokines and growth factors were analyzed from a genome-wide association study (GWAS) meta-analysis involving 8293 individuals and genetic data from the FinnGen database, comprising 1195 rosacea cases and 211,139 controls. …”
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The design and rationale of the cardiac REHABilitation to improve metabolic health in Hypertrophic CardioMyopathy (REHAB-HCM) Study by Matthew Cheung, Nathaniel Moulson, Jinelle C. Gelinas, Ali Daraei, Sarah M. Bradwell, Carolyn Taylor, Neil D. Eves, Graeme J. Koelwyn, Thomas M. Roston

“…Study objective: Hypertrophic cardiomyopathy (HCM) is the most common genetic myocardial disorder increasingly characterized by concomitant metabolic syndrome. …”
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The C825T Polymorphism of the G-Protein β3 Gene as a Risk Factor for Functional Dyspepsia: A Meta-Analysis by Yi-Zuo Song, He-Yi You, Zhe-Hui Zhu, Zheng-De Wen, Hui-Ying Xu, Bi-Cheng Chen, Zong-Jing Chen, Qing-Ke Huang

“…Functional dyspepsia (FD) is a functional upper gastrointestinal disorder with significant morbidity and medical costs. …”
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1q21.1 Duplication Syndrome and Anorectal Malformations: A Literature Review and a New Case by Maria Minelli, Chiara Palka Bayard de Volo, Melissa Alfonsi, Serena Capanna, Elisena Morizio, Maria Enrica Miscia, Gabriele Lisi, Liborio Stuppia, Valentina Gatta

“…Various environmental and genetic risk factors have been elucidated. The widespread use of genetic screening tests for the investigation of developmental disorders increased the recognition of copy number variants (CNVs) of the 1q21.1 region. …”
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A multi-trait approach identified 7 novel genes for back pain by Nadezhda M. Belonogova, Elizaveta E. Elgaeva, Irina V. Zorkoltseva, Anatoliy V. Kirichenko, Gulnara R. Svishcheva, Maxim B. Freidin, Frances M. K. Williams, Pradeep Suri, Tatiana I. Axenovich, Yakov A. Tsepilov

“…Less than half of this can be explained by known genetic variants identified in genome-wide association studies. …”
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Diagnostic yield of cystic fibrosis from a South Australian monocentric cohort: a retrospective study by Maria Fuller, Jasmina Markulić

“…Objectives To determine the diagnostic yield of cystic fibrosis (CF) using a two-tiered genetic testing approach. Although newborn screening includes CF, this typically only covers a selection of common genetic variants, and with over 2000 reported in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, we hypothesised that patients will be missed and present clinically later in life.Design A retrospective study over a 5-year period (January 2018–December 2022).Setting A single pathology service in South Australia.Participants A total of 1909 CF test referrals from patients with clinical suspicion indicated by respiratory and gastrointestinal manifestations, foetal echogenic bowel and male infertility and asymptomatic CF requests for reproductive carrier screening.Primary and secondary outcome measures The number and type of CFTR gene variants detected in symptomatic and asymptomatic testing referrals.Results A total of 25 patients were diagnosed with CF or CF-related disorders (2.5%) with gastrointestinal symptoms yielding the highest diagnostic rate of 4.4%. …”
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Treatment advances in Vitiligo: An Updated Review by Ishrat Binti Ismail, Yasmeen Jabeen Bhat, Mohd Shurjeel ul Islam

“…The etiopathogenesis of this disorder is obscure, but multiple factors contribute to the loss of melanocytes in the skin, like oxidative stress, inflammation, genetics, and autoimmunity. …”
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Role of autophagy defects and significance of adherent-invasive <i>Escherichia coli</i> in Crohn's disease development by I. V. Mayev, D. N. Andreev, D. V. Rakitina, Yu. P. Baykova

“…Alteration of autophagy process (defects of NOD2/ CARD15, ATG16L1, IRGM genes) is one of genetically determined disorders of innate immunity typical for CD. …”
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Description of Two New ABCB11 Mutations Responsible for Type 2 Benign Recurrent Intrahepatic Cholestasis in a French-Canadian Family by Yannick Beauséjour, Fernando Alvarez, Martin Beaulieu, Marc Bilodeau

“…The clinical presentation of the current cases are discussed, as are the differential diagnosis and genetic characteristics of the hereditary cholestatic disorders, overemphasizing the possibility of making a definite genetic diagnosis.…”
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Familial Prevalence of Inflammatory Bowel Disease in Northern Alberta by BR Pinchbeck, J Kirdeikis, ABR Thomson

“…This high familial prevalence of Crohn's disease and ulcerative colitis suggests that genetic factors could play a role in the development of these disorders. …”
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Life expectancy of cats in Britain: moggies and mollies live longer by Fernando Mata

“…Unlike dogs, cats were not selectively bred for specific roles until the late 1800s, resulting in breeds defined primarily by appearance, which sometimes leads to genetic disorders. Modern animal welfare concerns emphasize longevity and health, prompting research into factors affecting cat lifespans, including sex, reproductive status, and breed. …”
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Methodical approaches in experimental modelling of non-alcoholic fatty liver disease by N. V. Bivalkevich, Yu. K. Denisenko, T. P. Novgorodtseva

“…Genetic models are subdivided into two categories. …”
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