by Frederick H. Silver  and Tanmay Deshmukh

Received: 21 February 2026;  Published: 07 June 2026;  doi: 10.21926/obm.genet.2602345

Skin cancer is a major disease that affects older subjects in the US. There are 56 million Americans 65 years and older in the US and the median age for melanoma diagnosis in the United States is 66 years. Each year 6 M patients are treated for skin cancer including basal cell carcinoma, squamous cell carcinoma, and melanoma. Both melanoma and squamous cell carcinoma can metastasize with melanoma being more likely to metastasize compared to squamous cell carcinoma and lead to death. The need to screen older subject [...]

by Stephanie Liana  , Ferdy Kurniawan Cayami  , Annang Giri Moelyo  , Ratna Dewi Artati  , Muhammad Faizi  , Nur Rochmah  , Rusdi Andid  , Yulisnawati Hasanah  , Aditiawati  and Agustini Utari

Received: 22 January 2026;  Published: 02 June 2026;  doi: 10.21926/obm.genet.2602344

Osteogenesis Imperfecta (OI) is a rare genetic disorder caused by mutations in genes that encode collagen, with varying clinical presentations. While some studies in Indonesia have reported OI’s clinical features and treatments, there is a lack of comprehensive national data, with limited awareness and access to specialized care for affected individuals. This collaborative study, involving multiple centres across Indonesia, aims to address data fragmentation by analyzing patient characteristics, clinical manifestat [...]

by Mahmood Shams  , Nader Safarian  , Samila Farokhimanesh  and Akbar Dorgalaleh

Received: 23 January 2026;  Published: 26 May 2026;  doi: 10.21926/obm.genet.2602343

Congenital factor VII (FVII) deficiency is the most common rare bleeding disorder (RBD), presenting with various clinical manifestations. Given the heightened risk of life-threatening bleeding and fatal hemorrhagic complications, prompt detection of the disorder is critical, especially in cases with low FVII levels and a history of familial severe clinical presentations. In such cases, prenatal diagnosis (PND) emerges as a life-saving option. In this study, we reported two PNDs in a family with a positive family hi [...]

by José A. Cedeño-Escudero  , Luis A. Sotillo-Bent  , Evelyn Medina-Batista  and Luis A. Méndez-Rosado

Received: 26 January 2026;  Published: 20 May 2026;  doi: 10.21926/obm.genet.2602342

Hereditary Cardiomyopathies (HCs) are defined as genetically determined cardiovascular diseases (CVDs) that frequently exhibit a familial inheritance pattern. These conditions include cardiomyopathies (CMs), arrhythmias (ARs), and other inherited cardiovascular syndromes. In Panama, the national incidence of Hereditary Cardiomyopathies remains unknown. The objective was to identify genetic variants in Panamanian patients diagnosed with HCs or cardiac arrhythmias and subsequently to identify carrier families to prov [...]

by Hicham Bouchahta  , Nada Benyahya  , Zhour EL Amrani  , Fatima Ouboukss  , Thomas Liehr  , Siham Chafai Elalaoui  , Isabel Marques Carreira  , Yassamine Doubaj  , Abdelhafid Natiq  and Laila Sbabou

Received: 06 February 2026;  Published: 19 May 2026;  doi: 10.21926/obm.genet.2602341

Isolated duplications of the long arm of chromosome 3 (3q) are rare chromosomal abnormalities. To date, approximately 32 pure cases have been documented. Most reported 3q duplications arise from unbalanced translocations or inversion-loops mechanisms and are associated with additional chromosomal imbalances, making pure duplications particularly valuable for genotype-phenotype correlations. We report a 17-year-old female with a de novo pure tandem duplication of 3q26.33-q28 (~10.945 Mb). The clinical course was mar [...]

by Manal Hadi Ghaffoori Kanaan  , Ahmad M. Tarek  , Beom-Jin Lee  , Sura Saad Abdullah  , Chulhun Park  , Abdolmajid Ghasemian  and Steward Mudenda

Received: 14 March 2026;  Published: 18 May 2026;  doi: 10.21926/obm.genet.2602340

Acute myeloid leukemia (AML) is a heterogeneous hematologic malignancy with genetic and clinical characteristics. Recent advances in multi-omic technologies, including genomics, epigenomics, transcriptomics, proteomics, metabolomics, immunomics, microbiome profiling, and both spatial and single-cell analyses, have greatly enhanced our understanding of AML pathobiology. Substantial multi-omic studies show that recurrent driver mutations not only impart traditional genomic lesions but also participate in chromatin re [...]

by Havva Özgen Eyüpoğlu  , Hüseyin Çağsın  and Nedime Serakıncı

Received: 12 December 2025;  Published: 13 May 2026;  doi: 10.21926/obm.genet.2602339

Cancer remains one of the major global challenges due to its complex and heterogeneous molecular nature across individuals. Recent advances in technology have enhanced the understanding of cancer’s molecular mechanisms, paving the way for the development of effective therapeutics. These include small-molecule inhibitors and monoclonal antibodies, used to interfere with the oncogenic signaling pathways. Immunotherapy has also emerged as a promising area in cancer therapy, with approaches such as immune checkpoint in [...]

by Nisa Ayu Thayalisha Hadi  , Agustini Utari  , Nydia Rena Benita Sihombing  , Tri Indah Winarni  and Nani Maharani

Received: 08 January 2026;  Published: 06 May 2026;  doi: 10.21926/obm.genet.2602338

Noonan syndrome (NS) is an autosomal dominant disorder with a wide spectrum of symptoms and clinical phenotypes, including short stature, congenital heart defects (CHD), and distinctive facial features. A pathogenic variant in the PTPN11 gene is the major cause of NS. This is a preliminary study in Indonesia involving 29 patients with clinical features of NS. Detailed clinical and echocardiography data were collected. Genomic DNA was extracted from a peripheral blood sample. Exome sequencing or PCR followed by Sang [...]

by Taslim Uddin  , Fatema Tuz Zohora  , Tajmin Khanam  , Moumita Akter  , Lubaba Ibnul Himika  , Anika Tabassum Aziz  , Fariha Tabassum  , Syeda Marjia Kajol Tushy  , Salaha Aktar  , Maisha Maliha Misha  , Shaikh Nuzhat Nawshin Nimu  , Sadia Tasnim  , Shammi Akter Joya  , Israt Tasnim Mahisa  and Shahrin Akter Pinky

Received: 09 January 2026;  Published: 15 April 2026;  doi: 10.21926/obm.genet.2602337

Changes in the environment driven by climate change are becoming significant stressors that impact brain function, but the connections between these changes and neural plasticity remain unclear. This review aims to offer a comprehensive synthesis of the impact of climate-related stressors on neural plasticity via genetic and epigenetic mechanisms. A structured literature search (2000-2025) was conducted using PubMed, Scopus, and Web of Science, integrating evidence from in vitro, animal, and human studies. Findings [...]

by Elham Alimoradi  , Parham Nejati  , Fatemeh Molavi  , Setareh Isaee  , Soudeh Ghafouri-Fard  and Reza Alibakhshi

Received: 25 November 2025;  Published: 13 April 2026;  doi: 10.21926/obm.genet.2602336

Sensorineural hearing loss (SNHL) describes a diverse group of clinically and genetically distinct disorders of the auditory system. SNHL is associated with mutations in up to 150 genes. Among them is Cadherin 23 (CDH23), which is associated with both Usher syndrome and non-syndromic hearing loss. In the current study, we used WES to find the genetic cause of SNHL in an extended Iranian family. WES and subsequent Sanger sequencing confirmed the occurrence of a novel homozygote variant in the CDH23 gene (c.817T>C, p [...]