Article
Engineering, Biomedical
Yi Wang, Li-Fan Hu, Tian-Jiao Zhou, Lian-Yu Qi, Lei Xing, Jaiwoo Lee, Feng-Zhen Wang, Yu-Kyoung Oh, Hu-Lin Jiang
Summary: Rare monogenic disorders, with low incidence rates, face challenges in attracting commercial investment and research interest due to small affected populations, but advancements in gene therapy offer potential effective treatments for these diseases.
Review
Biotechnology & Applied Microbiology
Mahsa Ghasemzad, Mahdieh Hashemi, Zohre Miri Lavasani, Nikoo Hossein-khannazer, Haleh Bakhshandeh, Roberto Gramignoli, Hani Keshavarz Alikhani, Mustapha Najimi, Saman Nikeghbalian, Massoud Vosough
Summary: The majority of monogenic liver diseases are autosomal recessive disorders, and current therapeutic options are limited. Gene therapy is a promising approach, with the liver being an ideal target for gene transfer. Current genetic approaches use viral or non-viral vectors, and gene editing technology has shown promising results.
BIOENGINEERING-BASEL
(2022)
Article
Obstetrics & Gynecology
Alan Penzias, Jacob Anderson, Kristin Bendikson, Clarisa Gracia, Tommaso Falcone, Karl Hansen, Micah Hill, Sangita Jin-dal, Suleena Kalra, Tarun Jain, Michael Thomas, Richard Reindollar, Jared Robins, Chevis N. Shannon, Anne Steiner, Cigdem Tanrikut, Belinda Yauger, Rawan Awwad, Andria Besser
Summary: This article provides updated information on preimplantation genetic testing (PGT) for monogenic conditions, aiming to assist providers in supporting patient understanding and access to this technology, and offering considerations for future PGT clinical and laboratory guidelines.
FERTILITY AND STERILITY
(2023)
Article
Medicine, General & Internal
Amelie Bonnefond, Ranjit Unnikrishnan, Alessandro Doria, Martine Vaxillaire, Rohit N. Kulkarni, Viswanathan Mohan, Vincenzo Trischitta, Philippe Froguel
Summary: Monogenic diabetes encompasses several clinical conditions characterized by early-onset diabetes, including neonatal diabetes, maturity-onset diabetes of the young (MODY) and diabetes-associated syndromes. It can be misdiagnosed as type 2 diabetes, and different genetic variations can lead to different forms of diabetes. Precision medicine approaches and next-generation sequencing have improved diagnosis and treatment options.
NATURE REVIEWS DISEASE PRIMERS
(2023)
Review
Pediatrics
Yuying Liu, Jasmin Freeborn, Shabba A. Armbrister, Dat Q. Tran, Jon Marc Rhoads
Summary: This study shows new evidence that the severity of monogenic autoimmune disorders may be linked to the microbial composition, suggesting that future research should focus on targeting the microbiome. Although the onset of monogenic PIDs is independent of microbiota, their severity is markedly impacted by the microbial composition.
PEDIATRIC RESEARCH
(2022)
Article
Psychology, Multidisciplinary
Emiliano Diez, Estibaliz Jimenez-Arberas, Thais Pousada
Summary: Assistive technology is designed to help individuals with disabilities engage in everyday activities and achieve independence. The study evaluated the measurement properties of the Spanish version of the PIADS scale, which measures the psychosocial impact of interventions.
FRONTIERS IN PSYCHOLOGY
(2021)
Review
Multidisciplinary Sciences
Maria Jose Castellanos-Montiel, Ivan Velasco, Itzel Escobedo-Avila
Summary: The neuromuscular junction (NMJ) is a specialized structure that translates the action potential of the presynaptic motor neuron (MN) into the contraction of the postsynaptic myofiber. Different experimental models have been developed to study NMJ function and diseases, with current approaches including 3D structures and biomaterial-incorporated tissues.
ANNALS OF THE NEW YORK ACADEMY OF SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Madelyn A. Gillentine, Tianyun Wang, Evan E. Eichler
Summary: Rare neurodevelopmental disorders (RNDDs) are a type of rare diseases that mainly affect children. Epidemiological assessment of RNDDs is challenging due to their rarity and clinical overlap. This study estimated the prevalence of several RNDDs using large sequencing cohorts and suggested that social media group member numbers could be a valuable indicator for estimating prevalence.
Review
Genetics & Heredity
Wout Weuring, Jeroen Geerligs, Bobby P. C. Koeleman
Summary: In the past decade, novel genome editing and transient gene therapies have paved the way for the first in-human clinical trials for monogenic disorders. Syndromic autism spectrum disorders, caused by mutations in a single gene, are ideal candidates for gene therapies due to their monogenic nature and severity. When considering various forms of gene therapy, the best option must be chosen based on the specific gene and mutation.
Review
Endocrinology & Metabolism
Melissa M. Formosa, Dylan J. M. Bergen, Celia L. Gregson, Antonio Maurizi, Anders Kampe, Natalia Garcia-Giralt, Wei Zhou, Daniel Grinberg, Diana Ovejero Crespo, M. Carola Zillikens, Graham R. Williams, J. H. Duncan Bassett, Maria Luisa Brandi, Luca Sangiorgi, Susanna Balcells, Wolfgang Hoegler, Wim Van Hul, Outi Makitie
Summary: Genetic disorders of the skeleton, particularly rare bone mass disorders, have advanced our understanding of molecular signaling pathways in bone development, inheritance patterns, and the identification of new drug targets. Functional validation of novel disease genes in multiple model systems is crucial for future treatments, facilitated by extensive phenotyping and genotyping approaches.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Obstetrics & Gynecology
Lidiia Zhytnik, Maire Peters, Kadi Tilk, Kadri Simm, Neeme Tonisson, Tiia Reimand, Katre Maasalu, Ganesh Acharya, Kaarel Krjutskov, Andres Salumets
Summary: Late paternity may lead to the accumulation of de novo monogenic disorders in offspring, necessitating the use of non-invasive prenatal testing (NIPT) for safe and reliable detection. The ethical challenges associated with the introduction of MD-NIPT into routine clinical practice need to be carefully evaluated to ensure equitable access and proper counseling for affected pregnancies.
HUMAN REPRODUCTION UPDATE
(2021)
Article
Cell Biology
Jakob Proemer, Cinzia Barresi, Ruth Herbst
Summary: Muscle-specific kinase (MuSK) is the key regulator of neuromuscular junction development and its activation and signaling are tightly regulated. Recent studies using omics techniques have contributed to a better understanding of MuSK signaling. Impaired MuSK signaling causes muscle weakness, but the underlying pathophysiology is often unclear. This review focuses on recent advances in deciphering MuSK activation and downstream signaling, as well as the role of MuSK in non-muscle tissue.
CELLULAR SIGNALLING
(2023)
Review
Clinical Neurology
Sanjay Pandey, Sonali Bhattad, Shreya Dinesh
Summary: This article reviews research articles on tremor in primary monogenic dystonia, finding that tremor is reported in multiple dystonia genes with varying frequencies. Some genes such as HPCA and ANO3 have the highest prevalence of tremor in isolated dystonia, while SLC6A3 has the highest prevalence of tremor in combined dystonia.
CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS
(2021)
Review
Biochemistry & Molecular Biology
Antonietta Mele, Paola Mantuano, Brigida Boccanegra, Elena Conte, Antonella Liantonio, Annamaria De Luca
Summary: Ultrasonography is a safe and non-invasive imaging technique used in various medical fields for longitudinal monitoring of disease progression and treatment efficacy. It is commonly used in sports medicine and neuromuscular disorders for detecting skeletal muscle parameters. Recent advancements in high-resolution ultrasound devices have enabled its use in preclinical studies, particularly for echocardiographic assessments lacking specific guidelines for skeletal muscle measurements. This review aims to provide necessary information for independent validation of ultrasound skeletal muscle applications in preclinical studies, to establish standard protocols and reference values for translational research on neuromuscular disorders.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Endocrinology & Metabolism
Gabriella de Medeiros Abreu, Roberta Magalhaes Tarantino, Ana Carolina Proenca da Fonseca, Juliana Rosa Ferreira de Oliveira Andrade, Ritiele Bastos de Souza, Camila de Almeida Pereira Dias Soares, Amanda Cambraia, Pedro Hernan Cabello, Melanie Rodacki, Lenita Zajdenverg, Veronica Marques Zembrzuski, Mario Campos Junior
Summary: The genetic causes of monogenic diabetes in populations with mixed ethnic backgrounds, such as Brazil, are scarce. This study aimed to screen genes associated with monogenic diabetes in Brazilian patients with a family history of the disease. Variants in the GCK and HNF1A genes were found to be the most common, highlighting the importance of screening for monogenic diabetes in admixed populations.
FRONTIERS IN ENDOCRINOLOGY
(2022)
