https://www.geneticmedjournal.com/feed Introduction Genes are those entities that determine our unique personalities. Genes do not only determine the way we look but also the way our body functions. Genetic medicine facilitates the development of genetic knowledge and its medical applications, while improving society understanding of genetics. Gene therapy is considered as an experimental technique that uses genes in treatment or prevention of diseases. Genetic medicine research and genetic therapy are gradually involved in development of treatments for health problems caused by genetic abnormalities. Journal of Genetic Medicine and Gene Therapy paves the way for scientists, researchers and doctors to publish their esteemed manuscripts regarding the discoveries and developments in the field of genetic medicine and genetic therapy. The Journal provide a platform for international scholars to publish manuscripts enhancing knowledge for safe and effective use of genetic medicines and to advance gene therapy to its full potential. Reasons for Publishing Despite great strides in Genetic Medicine and Gene Therapy, their potential usefulness has been limited by lack of scientific data concerning the horde of functions that genes control in the human body. For instance, one group of scientists are alarmed that the gene therapy may cause disease while other group has fear that gene therapy may be used to regulate development of human intelligence. Moreover, gene therapy is currently being tested for the treatment of diseases that have no other cures. To address these issues, Heighten Science took the initiative through Journal of Genetic Medicine and Gene Therapy to publish scholarly manuscripts that can assist in searching the answers for the questions that surround the use and treatment related to genetic medicine and gene therapy. Review Article Shahin Asadi,Arezo Zare,Sima Koohestani 2025-05-01 10:40:40 Pachydermoperiostosis, also known as Primary Hypertrophic Osteoarthropathy (PHO), is a rare genetic disorder. The three main features are: enlarged fingertips (clubbing), thickened facial skin (pachydermia), and excessive sweating (hyperhidrosis). PHO is characterized by problems with skin and bone growth. Patients with PHO usually have coarse facial features with oily, thick, grooved skin on the face, joint pain, enlarged fingertips and toes, and hyperhidrosis of the hands and feet. Symptoms vary individually; however, men generally present with more severe manifestations. X-rays can help check for features that are not noticeable to the naked eye. There are two genes that are associated with PHO: the HPGD gene, located on the long arm of chromosome 4 at 4q34.1, and the SLCO2A1 gene, located on the long arm of chromosome 3 at 3q22.1 - q22.2. Mutations in the HPGD gene are inherited in an autosomal recessive manner, and the condition is sometimes abbreviated as PHOAR1 or Touraine-Solente-Gole syndrome. https://www.geneticmedjournal.com/articles/jgmgt-aid1013.pdf Review Article Humaira Aslam, Ali Umar, Misbah Ullah Khan*, Shehla Honey, Aman Ullah, Muhammad Ahsan Ashraf, Ghulam Ayesha, Nazia Nusrat, M Jamil, Shahid Khan, Adeel Abid 2024-08-21 00:00:00 The presence of heavy metals (HMs) on Earth is essential to all forms of life. These metals are essential for plant and animal development but can have numerous negative effects on the living environment. In this review, we looked at where HMs come from, why they are harmful, and how they affect plants. Articles indexed in Google Scholar, PubMed, Research Gate, Science Direct, and a few books on heavy metals were consulted for this study. Heavy metals are essential for plant development and growth. According to this analysis, the hazardous effects of HMs are on the rise all throughout the globe, and this trend may be attributed mostly to human activity. Because of its impact on agricultural productivity and environmental changes, soil pollution caused by HMs is among the most crucial elements. Plants have evolved very sophisticated defense systems to deal with these environmental challenges. The threat that HM stress poses to plants has attracted a lot of attention worldwide because it could stunt agriculture’s long-term expansion. In spite of their importance for plants, this study found that HMs pose a significant threat to plant life. The novelty of this review lies in its detailed examination of both the beneficial and detrimental roles of HMs, providing a balanced perspective often overlooked in current literature. The significance of this work is underscored by its potential to inform sustainable agricultural practices and environmental management strategies, as it highlights the delicate balance required to harness the benefits of HMs while mitigating their risks. Despite their necessity for plant development, this review underscores the significant risks HMs pose to plant health and ecosystems.Less than 10 cases have been reported in the literature of the association of germline BRCA1 and Squamous cell Carcinoma – the esophagus. The article focuses on the probable pathogenesis of BRCA1 mutation with non-classic malignancies and the response of Poly adenosine diphosphate ribose polymerase inhibitors (PARP) inhibitors in such a scenario. We report an unusual manifestation of the BRCA1 gene with second primary oesophageal squamous cell cancer occurring five years later to triple-negative breast cancer. https://www.geneticmedjournal.com/articles/jgmgt-aid1012.pdf Case Report Amrit Kaur Kaler*, Shraddha Manoj Upadhyay, Nandini Shyamali Bora, Ankita Nikam, Kavya P, Nivetha Athikeri, Dattatray B Solanki, Imran Shaikh, Rajesh Mistry 2024-07-02 11:11:42 We report a rare case of 62-year-old South Asian women who visited the Molecular Pathology and Genomics Department for hereditary germline cancer genetic testing after being diagnosed with oesophageal cancer, reported as invasive keratinizing squamous cell carcinoma metastasized to the lymph nodes. Her personal history revealed that she was diagnosed with triple-negative breast cancer five years before oesophageal cancer. Germline cancer testing showed pathogenic variants in BRCA1 gene c.68_69delAG, which proved it a hereditary breast and ovarian cancer syndrome. She was started on PARP inhibitors but developed some secondary respiratory failure and succumbed to death. Less than 10 cases have been reported in the literature of the association of germline BRCA1 and Squamous cell Carcinoma – the esophagus. The article focuses on the probable pathogenesis of BRCA1 mutation with non-classic malignancies and the response of Poly adenosine diphosphate ribose polymerase inhibitors (PARP) inhibitors in such a scenario. We report an unusual manifestation of the BRCA1 gene with second primary oesophageal squamous cell cancer occurring five years later to triple-negative breast cancer. https://www.geneticmedjournal.com/articles/jgmgt-aid1011.pdf Review Article DK Bhattacharya* 2024-04-25 11:08:08 The present review highlights some of the very important contributions to non-alignment ways of comparing biological sequences, which may be genome sequences of nucleotides, protein sequences of amino acids, or sequences of protein secondary structures. The discussion centers around specific methods applicable to the comparison of three types of sequences. The methods of comparison of genome sequences are based on three pairs of biological groups of nucleotides; the same for protein sequences are based on either physio-chemical property values of amino acids or on classified groups of amino acids of different cardinalities obtained from the physio-chemical properties; the same for sequences of secondary structures of proteins are based on their sequential expressions of structure elements of cardinality three and four. Comparison is made in the time domain and also in the frequency domain. Different taxa of known phylogeny are considered for comparison. It tries to find out the specific method of comparison, which can show the exact phylogeny of the taxa. If a new sequence appears in the database, it becomes essential to know its phylogeny. For this purpose, a phylogenetic tree is drawn on the sequences of the known taxa together with this new sequence using the best possible method. If the species having this new sequence belongs to the old taxa, there is nothing to worry about. Otherwise, the species with the new sequence has to be studied separately. This is the general reason for the construction of a phylogenetic tree in any form of biological sequence comparison. https://www.geneticmedjournal.com/articles/jgmgt-aid1010.pdf Review Article Sheena P Kochumon, Cherupally Krishnan Krishnan Nair* 2024-03-29 12:30:43 Spinal muscular atrophy is an autosomal recessive neuromuscular disorder characterized by progressive muscle weakness and atrophy. It is one of the most common single-gene disorders with an incidence rate of approximately 1 in 10,000 live births. The clinical manifestations are progressive hypotonia and muscle weakness due to the degeneration of alpha neurons in the anterior horn cells of the spinal cord and motor nuclei in the lower brain stem. Depending on the severity of the symptoms, SMA has five subtypes. Supportive measures can be offered for respiratory, gastrointestinal, and musculoskeletal complications. Carrier testing for all couples is recommended and this can be done by Multiplex Ligation-dependent Probe Amplification (MLPA). Prenatal diagnosis can be offered to carrier couples. Therapies must be given within the newborn period for maximum benefit and before the loss of motor neurons. It is achieved by identifying the SMA babies through Newborn screening. Several new FDA-approved drugs can reduce the progression of symptoms in SMA. However, they cannot offer a definite cure. Clinical follow-up and Neurological assessment demonstrate that SMA children can attain developmental milestones after receiving treatment, which is never normally attained in untreated cases. In utero SMA treatment with Zolgensma would enhance the survival rate and favorable neurological outcomes in the future. Base editing and Gene editing with CRISPR-Cas technologies to target the mutations and restore functional and stable SMN protein levels are the future hopes for a permanent cure of SMA. https://www.geneticmedjournal.com/articles/jgmgt-aid1009.pdf Case Report Marta Agnes Somorai*, Annabelle Arlt, Peter Krawitz, Jochen Baumkötter, Volker Mall 2023-12-27 15:49:35 We describe the first individual treatment trial with D-mannose in a young girl with PIGV-CDG. PIGV-CDG belongs to the GPI anchor deficiencies leading to intellectual disability, dysmorphic features, epilepsy, and, less frequently, organ malformations. A hallmark of the GPI anchor deficiencies is the elevated serum alkaline phosphatase (AP). Our patient carried the germline homozygous PIGV variant c.1022C>A, p. (Ala341Glu), the most commonly reported pathogenic variant leading to PIGV-CDG so far. We aimed to improve the impaired enzymatic function of PIGV through elevated substrate levels by giving D-mannose orally. We monitored the clinical status, developmental progress as well as serum AP levels. Our patient experienced no side effects. Standardized developmental testing showed better developmental progress during the 21-month treatment period with D-mannose than in the 12 months following the discontinuation of treatment. The D-Mannose treatment might have had a positive effect on the development of our patient with PIGV-CDG. https://www.geneticmedjournal.com/articles/jgmgt-aid1008.pdf Review Article Panagiotis Antoniadis,Florentina Alina Gheorghe,Madalina Ana Maria Nitu,Cezara Gabriela Nitu,Diana Roxana Constantinescu,Florentina Duica 2022-09-29 17:33:04 Through the development of new analysis technologies, many issues regarding the approach to tumoral diseases have been elucidated. With analytical assays developed in the last years, various omics technologies have evolved in such a manner that the characteristics of tumor cells and products can be evaluated (assessed) in the bloodstream of cancer patients at different times. Ovarian Cancer (OC) is one of the most difficult to diagnose umors, with low survival rates due to the high heterogeneity of these diseases that are distinct in terms of etiology and molecular characteristics, but which simply share an anatomical appearance. Recent findings have indicated that several types of ovarian cancer classified into different histotypes are in fact derived from non-ovarian issues and share few molecular similarities. Within this context, ovarian cancer screening and diagnosis can be made through the evaluation of circulating tumor cells in peripheral blood using liquid biopsy technologies. Advances in the study of various molecules analyzed by liquid biopsy have shown that elucidation of intratumoural and intertumoural heterogeneity and spatial and temporal tumor evolution could be traced by serial blood tests rather than by histopathological analyses of tissue samples from a primary tumor. Therefore, evaluation of some molecules such as circulating tumor cells (CTC), circulating tumor DNA (ctDNA), circulating cell-free RNA (non-coding and mRNA, extracellular vesicles), tumor-educated platelets or different miRNAs using liquid biopsy could lead to improvement of patient management. https://www.geneticmedjournal.com/articles/jgmgt-aid1007.pdf Research Article Daniel Guerrier,Karine Morcel 2021-03-24 00:00:00 The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is the most severe form of congenital malformation of the inner female reproductive tract. It is diagnosed as such when the uterus, the upper vagina and optionally the Fallopian tubes are absent. It accounts for approximately 1 in 5000 live-born females and has been classified in two subtypes: type 1 in the presence of isolated uterovaginal aplasia and type 2 when associated in various combinations with extragenital malformations of the kidneys, skeleton, heart and auditory system. Most cases of MRKH syndrome are sporadic, although a significant number of many familial cases have been reported to date. Despite numerous studies, the genetics of the syndrome remains largely unknown and appears to be heterogeneous: chromosomal abnormalities and some candidate gene variants appear to be associated with a few cases; others have been suggested but not yet confirmed. To date, mainly the GREB1L gene appears to be a serious candidate. Among the remaining hypotheses, the controversial contribution of partial duplications of the SHOX gene is still puzzling, as the deficiency of this gene is a major cause of skeletal adysplasia syndromes. We have attempted to resolve this controversy in a study of 60 MRKH cases. Our results tend to show that SHOX duplications can be the origin of a genetic mechanism responsible for MRKH syndrome. https://www.geneticmedjournal.com/articles/jgmgt-aid1006.pdf Research Article Takuma Hayashi,Takashi Ura,Kaoru Abiko,Masaki Mandan,Nobuo Yaegashi,Ikuo Konishi 2020-04-28 00:00:00 The ongoing outbreak of Coronavirus Disease 2019 (COVID-19) originally emerged in China during December 2019 and had become a global pandemic by March 2020. COVID-19 is caused by a novel coronavirus, severe acute respiratory syndrome coronavirus type 2 (SARS-CoV-2). Two other coronaviruses have caused world-wide outbreaks in the past two decades, namely SARS-CoV (2002–2003) and Middle East respiratory syndrome coronavirus (MERS-CoV) (2012–present). The surface spike glycoprotein (S), which is critical for virus entry through engaging the host receptor and mediating virus host membrane fusion, is the major antigen of coronaviruses. Recent studies provide molecular insights into antibody recognition of SARS-CoV-2. In this review, we discuss the relationship between the spike glycoprotein of SARS-CoV-2 and its receptor, angiotensin converting enzyme 2 (ACE2) including the latest findings. https://www.geneticmedjournal.com/articles/jgmgt-aid1005.pdf Review Article Shahin Asadi,Mahsa Jamali 2019-02-22 00:00:00 Köbberling-Dunnigan syndrome, also known as partial familial lipodystrophy, is a rare genetic disorder characterized by abnormal distribution of adipose tissues. Many people with Köbberling-Dunnigan syndrome develop insulin resistance, a condition in which body tissues cannot adequately respond to insulin hormone. Insulin is a hormone that helps regulate the level of your blood glucose. Köbberling-Dunnigan syndrome can be due to mutations in several different genes. However, type 2 Köbberling-Dunnigan syndrome is caused by the mutation of the LMNA gene, which is located on the long arm of chromosome 1 as 1q22. https://www.geneticmedjournal.com/articles/jgmgt-aid1004.pdf Review Article Jacques P Tremblay,Jean-Paul Iyombe-Engembe 2017-07-25 00:00:00 Since the discovery of the dystrophin gene (DMD gene) thirty years ago, several therapeutic approaches have been investigated to treat Duchenne muscular dystrophy (DMD). This includes cell therapy, exon jumping, exonic knockout, and the CinDel method. In this article, we present the challenges of developping a treatment for DMD and the advances of these various approaches. We included the new CRISPR-Cas9 system, which permits not only major progress in the development of new treatments based on genome editing but also the production of new animal models. https://www.geneticmedjournal.com/articles/jgmgt-aid1003.pdf Mini Review Yoshiyuki Hattori 2017-07-24 00:00:00 Nucleic acid-based therapy has become an increasingly important strategy for treating a variety of human diseases. In systemic therapy, a therapeutic gene must be delivered efficiently to its target tissues without side effects. To deliver a therapeutic gene such as plasmid DNA (pDNA) or small interfering RNA (siRNA) to target tissues by systemic administration, cationic carriers such as cationic liposomes and polymers have been commonly used as a non-viral vector. However, the binary complex of therapeutic gene and cationic carrier must be stabilized in the blood circulation by avoiding agglutination with blood components, because electrostatic interactions between positively charged complexes and negatively charged erythrocytes can cause agglutination, and the agglutinates contribute to high entrapment of the therapeutic genes in the highly extended lung capillaries. One promising approach for overcoming this problem is modification of the surface of cationic complexes with anionic biodegradable polymers such as hyaluronic acid, chondroitin sulfate, or polyglutamic acid. As another approach, we recently developed a sequential injection method of anionic polymer and cationic liposome/therapeutic gene complex (cationic lipoplex) for delivery of a therapeutic gene into the liver or liver metastasis. In this review, we describe recent advances in the delivery of therapeutic genes by lipid- and polymer-based carrier systems using anionic polymers. https://www.geneticmedjournal.com/articles/jgmgt-aid1002.pdf Editorial Ram Mohan Ram Kumar 2017-06-23 00:00:00 CRISPR technology has presented a path forward for genomic engineering and gene modification. The framework for the use of CRISPR technology to manipulate the human genome is of great interest and the form of its development and application has excited the researchers and biotech communities as the number of publications citing CRISPR gene targeting system has rose predominantly as indexed in PubMed. From a technical standpoint of view, most of us think that this would be relatively straightforward process, but technical feasibility is never the only consideration in doing experiments. Much of the discussion about CRISPR engineering has revolved mostly around its ability for treating disease or editing the genes of human embryos. In the real sense, what the biologists desire about CRISPR is its specificity: the ability to target and determine particular DNA sequences in the genome circuit. https://www.geneticmedjournal.com/articles/jgmgt-aid1001.pdf