A Case of Lacrimo-Auriculo-Dento-Digital Syndrome with Multiple Congenitally Missing Teeth by Lumbini Pathivada, Munagala Karthik Krishna, Mandeep Rallan

“…However, specific symptoms vary greatly among the cases with a high degree of overlap with other similar genetic disorders. Here, we describe a 7-year-old boy with LADD syndrome, clinical and radiological findings, dental treatment undertaken, and its differential diagnosis.…”
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The Zebrafish model in dermatology: an update for clinicians by Irene Russo, Emma Sartor, Laura Fagotto, Anna Colombo, Natascia Tiso, Mauro Alaibac

“…Several studies have proved that there is a high level of similarity between human and zebrafish genomes, which encourages the use of zebrafish as a model for understanding human genetic disorders, including cancer. Interestingly, zebrafish skin shows several similarities to human skin, suggesting that this model organism is particularly suitable for the study of neoplastic and inflammatory skin disorders. …”
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Noncompaction Cardiomyopathy with Charcot-Marie-Tooth Disease by Sherif Ali Eltawansy, Andrea Bakos, John Checton

“…It is usually associated with genetic disorders and that could explain the genetic pathogenesis of the non-compaction cardiomyopathy. …”
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Integration of transcriptomics and metabolomics data revealed role of insulin resistant SNW1 gene in the pathophysiology of gestational diabetes by Ravi Bhushan, Rimjhim Trivedi, Ritu Raj, Anjali Rani, Sangeeta Rai, Anima Tripathi, Shiv Govind Rawat, Ajay Kumar, Dinesh Kumar, Pawan K. Dubey

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Effects of selection and mutation on epidemiology of X-linked genetic diseases by Francesca Verrilli, Hamed Kebriaei, Luigi Glielmo, Martin Corless, Carmen Del Vecchio

“…The epidemiology of X-linked recessive diseases, a class of genetic disorders, is modeled with a discrete-time, structured, non linear mathematical system. …”
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Plasmid Gene Therapy for Monogenic Disorders: Challenges and Perspectives by Marco A. Luís, Marcelo A. D. Goes, Fátima Milhano Santos, Joana Mesquita, Paulo Tavares-Ratado, Cândida Teixeira Tomaz

“…In recent years, gene therapy has appeared as a promising approach for addressing genetic disorders. However, despite advancements in gene manipulation tools and delivery systems, several challenges remain unresolved, including inefficient delivery, lack of sustained expression, immunogenicity, toxicity, capacity limitations, genomic integration risks, and limited tissue specificity. …”
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Generation of an induced pluripotent stem cell line (UCLi026-A) from a patient with ADCY5-related disease carrying the heterozygous variant c.1253G > A; (p. Arg418Gln) by Sharmin Alhaque, Dimitri Budinger, Barbara Garavaglia, Giovanna Zorzi, Serena Barral, Manju A. Kurian

“…Adenylyl cyclase 5 (ADCY5)-related diseases are a rare group of genetic disorders that commonly present in childhood. Heterozygous mutations in ADCY5 lead to ADCY5-related dyskinesia, comprising a wide array of disabling hyperkinetic movement disorders including chorea, myoclonus and/or dystonia. …”
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Sekwencjonowanie genomu/eksomu człowieka - aspekt bioetyczny by Andrzej Kochański

“…For years molecular diagnostics in genetic disorders were limited to a single gene or to a group of genes. …”
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Current Evidence and Insights about Genetics in Thoracic Aorta Disease by Gianluigi Bisleri, Lorenzo Bagozzi, Claudio Muneretto

“…Finally, also sporadic forms have been found to be potentially associated with genetic disorders, as highlighted by the analysis of rare variants and expression of specific microRNAs. …”
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A dual role of Cohesin in DNA DSB repair by Michael Fedkenheuer, Yafang Shang, Seolkyoung Jung, Kevin Fedkenheuer, Solji Park, Davide Mazza, Robin Sebastian, Hiroyuki Nagashima, Dali Zong, Hua Tan, Sushil Kumar Jaiswal, Haiqing Fu, Anthony Cruz, Supriya V. Vartak, Jan Wisniewski, Vittorio Sartorelli, John J. O’Shea, Laura Elnitski, Andre Nussenzweig, Mirit I. Aladjem, Fei-Long Meng, Rafael Casellas

“…Defects in repairing double-stranded breaks (DSBs) can lead to genomic instability, contributing to cancer, genetic disorders, immunological diseases, and developmental defects. …”
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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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Optimality and stability of symmetric evolutionary games with applications in genetic selection by Yuanyuan Huang, Yiping Hao, Min Wang, Wen Zhou, Zhijun Wu

“…We demonstrate how these conditions can be applied to justifying the strategies and their stabilities for a special class of genetic selection games including some in the study of genetic disorders.…”
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Dimerization-dependent serine protease activity of FAM111A prevents replication fork stalling at topoisomerase 1 cleavage complexes by Sowmiya Palani, Yuka Machida, Julia R. Alvey, Vandana Mishra, Allison L. Welter, Gaofeng Cui, Benoît Bragantini , Maria Victoria Botuyan, Anh T. Q. Cong, Georges Mer, Matthew J. Schellenberg, Yuichi J. Machida

“…Missense mutations in the catalytic domain cause hyper-autocleavage and are associated with genetic disorders with developmental defects. Despite the enzyme’s biological significance, the molecular architecture of the FAM111A serine protease domain (SPD) is unknown. …”
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SOST and DKK: Antagonists of LRP Family Signaling as Targets for Treating Bone Disease by James J. Mason, Bart O. Williams

“…The study of rare human genetic disorders has often led to some of the most significant advances in biomedical research. …”
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Advancements in the Treatment of Mucopolysaccharidoses: From Established Therapies to Gene Therapy by Joanna Wanat, Wojciech Homa, Aleksandra Warunek, Gabriela Gronowicz, Izabela Dzikowska, Agata Siejka, Daria Stefaniak, Weronika Zielińska, Michał Chról

“… Introduction and purpose Mucopolysaccharidoses (MPS), a subset of inborn errors of metabolism (IEM), are genetic disorders requiring pediatricians to recognize non-specific symptoms and carefully monitor newborns. …”
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The Impact of Transposable Elements in Genome Evolution and Genetic Instability and Their Implications in Various Diseases by Selvam Ayarpadikannan, Heui-Soo Kim

“…For the past two decades, many studies have shown that TEs are the causative factors of various genetic disorders and cancer. TEs are a subject of interest worldwide, not only in terms of their clinical aspects but also in basic research, such as evolutionary tracking. …”
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True Lies: The Double Life of the Nucleotide Excision Repair Factors in Transcription and DNA Repair by Nicolas Le May, Jean-Marc Egly, Frédéric Coin

“…NER defects lead to three genetic disorders that result in predisposition to cancers, accelerated aging, neurological and developmental defects. …”
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Werner Syndrome Caused by Homozygous Frameshift Variant c.1578del in WRN by Jovita Patricija Druta, Gunda Petraitytė, Aušra Sasnauskienė, Eglė Preikšaitienė

“…Progerias are rare hereditary genetic disorders that cause the onset of aging to occur earlier than generally expected, which initiates the progression of many age-related diseases. …”
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Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders by Heonjong Han, Go Hun Seo, Seong-In Hyun, Kisang Kwon, Seung Woo Ryu, Rin Khang, Eugene Lee, JiHye Kim, Yongjun Song, Won Chan Jeong, Joohyun Han, Dong-wook Kim, Soyeon Yang, Sohyun Lee, Sohyun Jang, Jungsul Lee, Hane Lee

“…Abstract We investigated the effectiveness of exome sequencing (ES) in diagnosing ethnically diverse patients with rare genetic disorders. A total of 18,994 patients referred to a single reference laboratory for ES between 2020 and 2022 were studied for the diagnostic rate and factors influencing the diagnostic rate. …”
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Analysis of Amelogenin and Sex-determining Region on Y Chromosome Genes Obtained from Pulpal Tissue for Sex Estimation by using Multiplex Polymerase Chain Reaction by Mohammed Taha Ahmed Baban, Dena Nadhim Mohammad, Natheer Al-Rawi

“…Nevertheless, the amplification of both of these genes encounters limitations in determining sex, primarily due to deletions observed in certain racial groups and the influence of genetic disorders on these genes. This research aims to assess the precision of simultaneously amplifying both genes using multiplex polymerase chain reaction on samples derived from teeth that have been subjected to various forensic conditions. …”
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