Automated karyogram analysis for early detection of genetic and neurodegenerative disorders: a hybrid machine learning approach by Sumaira Tabassum, M. Jawad Khan, Javaid Iqbal, Asim Waris, M. Adeel Ijaz

“…Karyotype analysis is the standard procedure for diagnosing genetic disorders. Identifying anomalies is often costly, time-consuming, heavily reliant on expert interpretation, and requires considerable manual effort. …”
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RNA-Targeting CRISPR/CasRx system relieves disease symptoms in Huntington’s disease models by Yingqi Lin, Caijuan Li, Yizhi Chen, Jiale Gao, Jiawei Li, Chunhui Huang, Zhaoming Liu, Wei Wang, Xiao Zheng, Xichen Song, Jianhao Wu, Jiaxi Wu, Oscar Junhong Luo, Zhuchi Tu, Shihua Li, Xiao-Jiang Li, Liangxue Lai, Sen Yan

“…Furthermore, the success of this approach provides valuable insights and novel avenues for the treatment of other genetic disorders caused by gene mutations.…”
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Functional analysis of a novel homozygous missense IVD gene variant: a case report with dual genetic diagnoses by Yuying Zhu, Ke Wu, Hanying Wen

“…Our in vitro functional and computer simulation findings revealed that this variant was associated with haploinsufficiency, which resulted in dramatically reducing the formation of IVD protein due to unstable mutant protein and not a lack of mRNA expression.ConclusionThe boy was diagnosed with the dual genetic disorders of Prader–Willi syndrome and isovaleric acidemia. …”
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IRAP-analysis for evaluating the genetic stability of endemic and endangered species of the Western Caucasus flora in the collection in vitro by I. I. Suprun, V. I. Malyarovskaya, I. V. Stepanov, L. S. Samarina

“…The results obtained can serve as evidence of a low probability of genetic disorders during in vitro propagation and conservation of the species Eryngium maritimum L., Galanthus woronowii Losinsk. and Campanula sclerophylla Kolak.…”
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Challenges in managing osteogenesis imperfecta in a resource-limited setting: a case report by Ssekabembe Richard, Natumanya Robert, Vanusa Da Consolação Sambo, Abonga Daniel, Okidi Ronald

“…Conclusion This case report underscores the importance of early diagnosis of osteogenesis imperfecta and highlights the need for increased clinical awareness, specialized training, and resource allocation to improve outcomes for patients with rare genetic disorders in low-resource settings.…”
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Impact of elexacaftor-tezacaftor-ivacaftor in lung transplantation for cystic fibrosis in the United States by Tahuanty A. Pena, MD, MS, Brittany Wright, PharmD, Kalpaj R. Parekh, MBBS, Julia Kleney-Tait, MD, PhD

“…These findings underscore the transformative impact of CFTR modulators like ETI on the natural history of CF, highlighting the importance of continued advancements in precision medicine for genetic disorders. Future studies should investigate long-term outcomes and sustained trends in lung transplantation needs among pwCF.…”
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Clinical Features and Genetic Characteristics of XLID Patients With KDM5C Gene Mutations: Insights on Phenotype–Genotype Correlations From 175 Previous Cases and Identification of... by Mohammad‐Reza Ghasemi, Zahra Esmaeilizadeh, Sahand Tehrani Fateh, Hossein Sadeghi, Saman Bagheri, Farzad Hashemi‐Gorji, Morteza Sheikhi Nooshabadi, Rasoul Madannezhad, Toktam Sadat Tavabe Ghavami, Reza Mirfakhraie, Mohammad Miryounesi

“…Results The study identified a novel variant, c.2704C>T:p.Gln902X, located in exon 19 of the KDM5C gene (NM_004187.5) using Whole exome sequencing (WES), highlighting the utility of this approach in identifying rare genetic disorders. The analysis also revealed the variable clinical features associated with KDM5C‐related disorders and identified missense variants as the most prevalent among the reported variants. …”
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RNA sequence analysis landscape: A comprehensive review of task types, databases, datasets, word embedding methods, and language models by Muhammad Nabeel Asim, Muhammad Ali Ibrahim, Tayyaba Asif, Andreas Dengel

“…Aberrations in RNA sequence such as dysregulation and mutations can drive a diverse spectrum of diseases including cancers, genetic disorders, and neurodegenerative conditions. Furthermore, researchers are harnessing RNA's therapeutic potential for transforming traditional treatment paradigms into personalized therapies through the development of RNA-based drugs and gene therapies. …”
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Modern classification and molecular-genetic aspects of osteogenesis imperfecta by A. R. Zaripova, R. I. Khusainova

“…Osteogenesis imperfecta (imperfect osteogenesis in the Russian literature) is the most common hereditary form of bone fragility, it is a genetically and clinically heterogeneous disease with a wide range of clinical severity, often leading to disability from early childhood. It is based on genetic disorders leading to a violation of the structure of bone tissue, which leads to frequent fractures, impaired growth and posture, with the development of characteristic disabling bone deformities and associated problems, including respiratory, neurological, cardiac, renal impairment, hearing loss. …”
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Transitioning from wet lab to artificial intelligence: a systematic review of AI predictors in CRISPR by Ahtisham Fazeel Abbasi, Muhammad Nabeel Asim, Andreas Dengel

“…This groundbreaking technology holds immense potential for the development of targeted therapies for a wide range of diseases, including cancers, genetic disorders, and hereditary diseases. CRISPR-Cas9 based genome editing is a multi-step process such as designing a precise gRNA, selecting the appropriate Cas protein, and thoroughly evaluating both on-target and off-target activity of the Cas9-gRNA complex. …”
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Family Self-Support in Managing Down Syndrome Children: A Qualitative Study by Farzaneh Noroozi, Zohreh Farrar, Tayebeh Gharibi, Roqayeh Gashmard

“…Down syndrome (DS) is the most common reason for disabilities caused by genetic disorders. Due to the special nature of this disease and the special needs of children with Down syndrome, they are required to receive their families’ support. …”
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Knowledge of and Adherence to Anaemia Prevention Strategies among Pregnant Women Attending Antenatal Care Facilities in Juaboso District in Western-North Region, Ghana by Prince Kubi Appiah, Daniel Nkuah, Duut Abdulai Bonchel

“…The commonest source of anaemia is nutritional deficiency of iron with evidence suggesting that up to 90% of maternal anaemia may be due to inadequate consumption of dietary iron; however, there are other causes which include worm infestation, HIV infection, and genetic disorders. There are some implemented approaches in Ghana including education and awareness creation, nutritional supplements, and control and prevention of parasitic infections among others to prevent and control anaemia in pregnancy. …”
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Infusion of Autologous Retrodifferentiated Stem Cells into Patients with Beta-Thalassemia by Ilham Saleh Abuljadayel, Tasnim Ahsan, Huma Quereshi, Shakil Rizvi, Tamseela Ahmed, Sabiha Mirza Khan, Jawaid Akhtar, Ghazi Dhoot

“…No adverse side effects in response to the infusion of autologous RSC were noted.This novel clinical procedure may profoundly modify the devastating course of many genetic disorders in an autologous setting, thus paving the way to harnessing pluripotency from differentiated cells to regenerate transiently an otherwise genetically degenerate tissue such as thalassemic blood.…”
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Sequence-structure based prediction of pathogenicity for amino acid substitutions in proteins associated with primary immunodeficiencies by Ekaterina S. Porfireva, Anton D. Zadorozhny, Anastasia V. Rudik, Dmitry A. Filimonov, Alexey A. Lagunin, Alexey A. Lagunin

“…IntroductionPrimary immunodeficiencies (PIDs) are a group of rare genetic disorders characterized by dysfunction of the immune system components. …”
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Unraveling the genetic spectrum of inherited deaf-blindness in Portugal by Telma Machado, Telmo Cortinhal, Ana Luísa Carvalho, Francisco Teixeira-Marques, Rufino Silva, Joaquim Murta, João Pedro Marques

“…Abstract Background Syndromic genetic disorders affecting vision can also cause hearing loss, and Usher syndrome is by far the most common etiology. …”
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Evaluation of in-vitro and in-silico antidiabetic potential, glucose metabolism, antioxidant, cytotoxicity and phytochemical content of Ipomoea bolusiana Schinz and Ipomoea crassip... by Garland Kgosi More, Nolitha Nkobole, Charmy Twala, Sechaba Machedi, Tebogo Amos Moswetsa, Ramakwala Christinah Chokwe

“…Background: Diabetes Mellitus is a chronic metabolic disorder caused by genetic disorders and other factors such as the use of certain medications, pancreatic injury, and autoimmune diseases such as rheumatoid arthritis and high blood pressure. …”
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