by Michael Fossel

Received: 11 December 2016;  Published: 06 January 2017;  doi: 10.21926/obm.geriatr.1701001

Geriatrics, and much of clinical medicine, is on the verge of a profound transformational shift. Until now, there has been a sharp conceptual divide between diseases which can be readily and effectively treated, and diseases which we have thought to be beyond clinical intervention. In the first disease category, are many of the most common infections that respond to antibiotics and immunizations. We have made dramatic changes in the demographics and the mortality of many such treatable diseases. At the other extrem [...]

by Alfonso Pellegrino  and Alessandro Stasi

Received: 16 January 2026;  Published: 27 August 2026;  doi: 10.21926/obm.genet.2603355

This bibliometric review analyzes 387 Scopus-indexed publications (1970-2025) on the relationship between genetics and education, retrieved with the query (“Genetics” AND “Academic Performance”) OR (“Heritability” AND “Education”). Research output was minimal until the 2000s, then expanded rapidly with the rise of twin cohorts and, after 2010, large genome-wide association studies (GWAS) and polygenic prediction. Science mapping reveals three thematic clusters: classical heritability studies of cognitive and academ [...]

by Elham Amjad  and Babak Sokouti

Received: 15 December 2025;  Published: 24 August 2026;  doi: 10.21926/obm.genet.2603354

The pathology of PD is characterized by progressive degeneration of dopaminergic neurons, although the full regulatory network involved in this process is not yet fully established. The present research employed a multi-omic systems biology design, integrating transcriptomic, functional, epigenetic, and microRNA analyses to develop a mechanistic model of neurodegeneration in the substantia nigra. We have determined six differentially expressed genes, such as tyrosine hydroxylase (TH), solute carrier family 18 membe [...]

by Maria Bisba  , Eirini Louizou  , Konstantinos Tzanakis  , Thomas Liehr  and Spiros Vittas

Received: 21 January 2026;  Published: 21 August 2026;  doi: 10.21926/obm.genet.2603353

Small supernumerary marker chromosomes (sSMCs) are rare chromosomal abnormalities with diverse outcomes and variable effects that can be detected prenatally. The clinical significance of low-level mosaic sSMCs is often uncertain, and postnatal follow-up is essential to assess phenotypic outcomes. A fetus in whom a low-level mosaic sSMC (8%) was detected during prenatal testing is reported. The sSMC was found in 12 out of 150 metaphases examined by conventional karyotype, followed by molecular cytogenetic analyses ( [...]

by Elisavet Kouvidi  , Georgios Boutsikas  , Marina Kalomiraki  , Maria Devetzoglou  , Foteini Drimaki  , Ioannis Anagnostopoulos  and Evangelia-Faidra Triantafyllou

Received: 31 December 2025;  Published: 17 August 2026;  doi: 10.21926/obm.genet.2603352

The genetic hallmark of Acute promyelocytic leukemia (APL) is the balanced reciprocal translocation t(15;17)(q24;q21), resulting in the PML::RARα fusion gene. Although the majority of APL patients carry the typical t(15;17), variant translocations involving three or more chromosomes have also been described. We report a case of a 59-year-old man showing clinical, morphologic, laboratory, and immunophenotypic findings of APL. Cytogenetic analysis revealed a variant complex 4-point break-three-way translocation invol [...]

by Leena Rawal  and Vamshi Krishna Thamtam

Received: 15 April 2026;  Published: 10 August 2026;  doi: 10.21926/obm.genet.2603351

Acute myeloid leukemia (AML) represents a clinically and genetically heterogeneous group of hematologic malignancies. Among the less frequently encountered cytogenetic abnormalities are jumping translocations (JTs), in which a segment from a donor chromosome relocates to multiple recipient chromosomes. Although uncommon, these events have been described in association with clonal evolution and, in some cases, more aggressive disease behavior. Here, we describe a 49-year-old man who presented with fatigue and genera [...]

by Sarah Ahmed  , Marwa M. Mohammed  , Hiba Mohammed  , Sana Magzoub  and Mona Ellaithi

Received: 04 January 2026;  Published: 03 August 2026;  doi: 10.21926/obm.genet.2603350

Nasopharyngeal carcinoma (NPC) is a multifactorial malignancy influenced by genetic susceptibility and environmental exposures. The XRCC1 Arg399Gln (rs25487) polymorphism has been associated with NPC risk in several populations; however, evidence from African populations remains scarce. This study investigated the association between the XRCC1 Arg399Gln polymorphism and NPC susceptibility in a Sudanese population. A case-control study was conducted including 71 patients with histopathologically confirmed NPC and 71 [...]

by Manel Chalbi  , Rahma Jrad  , Soumaya Kachti  and Mohamed Ali Chemli

Received: 20 December 2025;  Published: 19 July 2026;  doi: 10.21926/obm.genet.2603349

Epidermolysis bullosa (EB) is a group of rare, genetically determined disorders characterized by blister formation, skin fragility, and mucocutaneous blisters and erosions following minimal trauma. Oral manifestations and dental involvement of EB vary in frequency and severity depending on the subtype. Dental management of children with EB is complex due to the high risk of iatrogenic soft-tissue injury and requires strict adherence to evidence-based preventive and minimally invasive protocols. Published clinical p [...]

by Elham Alimoradi  , Elaheh Emadi  , Parham Nejati  , Fatemeh Molavi  , Mohamad Javad Alibakhshi  and Reza Alibakhshi

Received: 23 April 2026;  Published: 15 July 2026;  doi: 10.21926/obm.genet.2603348

SLITRK6 is essential for inner-ear neuronal survival and retinal development, and pathogenic variants in this gene cause syndromic sensorineural hearing loss (HL) with high myopia. This study aimed to identify the genetic basis of HL and myopia in a consanguineous Iranian family with two affected children and to characterize the molecular consequences of the detected variant. One sibling with bilateral congenital HL and myopia was evaluated using whole-exome sequencing (WES). Common variants (MAF >1%) were excluded [...]

by Elimkhan Jafarov  , Aladdin Tagiyev  , Mehriban Velijanova  , İntizar Zeynalova  , Gunel Gojayeva  , Anar Jafarov  , Lala Allahverdiyeva  , Shabnam Huseynova  and Nurlana Eminova

Received: 25 March 2026;  Published: 10 July 2026;  doi: 10.21926/obm.genet.2603347

Seeds of cotton varieties Ganja-160, Ganja-182, and Ganja-183 were γ-irradiated with the isotope Co-60 at doses of 5, 10, 50, 100, 200, 300, and 400 Gy (at a dose rate of 0.342 rad/sec). Irradiated seeds, along with non-irradiated seeds (controls), were sown at the experimental base of the Center for Agricultural Sciences under open-field conditions in four replicates. The aim was to obtain mutant cotton lines with high quality and improved technological parameters, as well as resistance to various diseases and ext [...]