Journal of Clinical Genetics and Heredity最新文献

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Prevalence Allusions of Albright’s Hereditary Osteodystrophy Syndrome in South Asia Albright遗传性骨营养不良综合征在南亚的患病率

Journal of Clinical Genetics and Heredity Pub Date : 2023-08-16 DOI: 10.37191/mapsci-jcgh-1(1)-003

A. Abubakar

{"title":"Prevalence Allusions of Albright’s Hereditary Osteodystrophy Syndrome in South Asia","authors":"A. Abubakar","doi":"10.37191/mapsci-jcgh-1(1)-003","DOIUrl":"https://doi.org/10.37191/mapsci-jcgh-1(1)-003","url":null,"abstract":"Albright's Hereditary Osteodystrophy (AHO) is a rare, complex genetic metabolic disorder that was first delineated by American endocrinologist Fuller Albright in 1942. This syndrome is characterized by physical features such as short stature, abnormal finger and toe bones, skin ossification, obesity, rounded facial appearance, flat nasal bridge, and in some cases, developmental and mental abnormalities. AHO is classified as a subtype of pseudohypoparathyroidism type 1A due to its association with resistance to parathyroid hormone. When AHO is inherited from parents, it leads to the development of the syndrome without hormonal issues, resulting in a condition known as Pseudo-Pseudo Hypoparathyroidism (PPHP). PPHP is inherited in an autosomal dominant manner, caused by a mutation in the GNAS gene. This gene is responsible for producing a subunit of a protein called a G protein, which regulates the activity and production of specific hormones, including parathyroid hormone. Globally, AHO is considered a rare syndrome, with a prevalence of 0.7 in 100 individuals. It is further classified into subtypes 1a, 1b, 1c, and 2 based on different phenotypes and underlying mechanisms. However, the purpose of this study is to investigate the rarity of the syndrome in the Asian subcontinent, specifically examining its prevalence, recent trends, and awareness within the selected demographic population. A survey-based approach was employed to gather data from several Asian countries. The findings of this study revealed significant variations in terms of gender distribution, family history, associated complications, Gs alpha subunit deficiency, and the age at which individuals are diagnosed with the syndrome. These variations underscore the need for a versatile approach to accurately diagnose and promptly treat individuals at risk of or already affected by the syndrome.","PeriodicalId":206025,"journal":{"name":"Journal of Clinical Genetics and Heredity","volume":"95 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"133072372","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Investigating the Frontiers of Genetic Regulation and Unlocking the Secrets of Gene Expression: The Power of RNA-based Therapeutics 研究基因调控的前沿，解开基因表达的秘密:rna治疗的力量

Journal of Clinical Genetics and Heredity Pub Date : 2023-03-30 DOI: 10.37191/mapsci-jcgh-1(1)-002

Muhammed Ali Siham HR

{"title":"Investigating the Frontiers of Genetic Regulation and Unlocking the Secrets of Gene Expression: The Power of RNA-based Therapeutics","authors":"Muhammed Ali Siham HR","doi":"10.37191/mapsci-jcgh-1(1)-002","DOIUrl":"https://doi.org/10.37191/mapsci-jcgh-1(1)-002","url":null,"abstract":"Advancements in genome editing have revolutionized the field of biotechnology by enabling precise manipulation of DNA sequences. The ability to edit genes has significant implications for treating genetic diseases and developing novel therapeutics. Despite the considerable progress made in genome editing, there are still concerns over its off-target effects and ethical considerations, which have spurred the exploration of alternative approaches. In this context, we present a paper on antisense technology, an innovative biological approach that has the potential to regulate gene expression by halting the translation process of mRNA and suppressing protein production. We highlight the limitations of current genome editing technologies and the need for more targeted and personalized approaches to treat genetic disorders. Antisense technology employs artificially synthesized oligonucleotides or small RNA sequences to target specific genes and inhibit their expression. This approach provides greater specificity and control over gene expression, making it a highly promising therapeutic option for various diseases such as cancer, cardiovascular diseases, and viral infections. We discuss the current status of antisense technology, its potential future prospects, as well as the challenges and opportunities that need to be addressed to fully exploit its potential. Overall, our paper aims to shed light on the significance of antisense technology in the field of biotechnology and its potential to revolutionize gene expression regulation. By providing an overview of this innovative approach, we hope to inspire further research in this area and pave the way for novel and more effective therapies for genetic disorders.","PeriodicalId":206025,"journal":{"name":"Journal of Clinical Genetics and Heredity","volume":"39 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129881246","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Translational Pharmacogenomics Augmenting Pharmacotherapy 转化药物基因组学增强药物治疗

Journal of Clinical Genetics and Heredity Pub Date : 2023-03-01 DOI: 10.37191/mapsci-jcgh-1(1)-001

K. Uppaluri

{"title":"Translational Pharmacogenomics Augmenting Pharmacotherapy","authors":"K. Uppaluri","doi":"10.37191/mapsci-jcgh-1(1)-001","DOIUrl":"https://doi.org/10.37191/mapsci-jcgh-1(1)-001","url":null,"abstract":"Pharmacogenomics (PGx), the intertwined knowledge of pharmacology and genomics, is well known. Taking PGx in pace with modern sequencing technological advancements is essential for effective clinical utilization, implementation, and personalized treatment care. Molecular profiling is a technique used to analyze the genetic and molecular makeup of an individual's cancer or other diseases. Decisions on a patient's course of treatment, including the choice of an appropriate pharmacotherapy, can be made using this information. For example, molecular analysis can pinpoint genetic changes that increase a patient's propensity to respond to a particular treatment. It can also reveal potential resistance mechanisms, which helps choose effective treatments for patients. In addition, molecular profiling can help to identify possible side effects that a patient may experience when taking certain medications. Overall, molecular profiling can be a valuable tool in helping to optimize pharmacotherapy for an individual patient. This review highlights the history of PGx, the role of pharmacogenes, PGx guidelines, the interrelation between PGx and personalized medicine, PGx technologies, challenges, and solutions in the implementation of PGx, international and national execution of PGx, and PGx in geriatric patient care, pediatric patient care, maternal, fetal medicine, general medicine, and oncology with a focus on the international and national scenarios. This review aims to better elucidate PGx for clinical implementation by healthcare workers, clinicians, and researchers to ensure efficient, safe, and cost-effective pharmacotherapeutic treatment plans for patients.","PeriodicalId":206025,"journal":{"name":"Journal of Clinical Genetics and Heredity","volume":"81 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125238079","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0