Advances in Gene Therapy for Age Related Macular Degeneration (ARMD): A Promising Frontier | Chapter 10 | Medical Science: Recent Advances and Applications Vol. 11

 

A serious demographic and public health concern, age-related macular degeneration (ARMD) continues to be the leading cause of permanent loss of vision in the elderly globally. Conventional therapeutic approaches, including anti-VEGF injections and laser-based strategies, offer only temporary disease control and are limited in their ability to modify the underlying pathophysiology. It involves creating techniques to ensure sustained delivery of a range of antiangiogenic proteins. These are repetitive intravitreal injections, which put the patient at high risk of infection, costly drugs, low compliance, disparities in access, healthcare burden, increase the doctor-patient conflict, and are hectic for the elderly population. It is a degenerative disease that results in central vision loss by affecting the choriocapillaris, photoreceptors, retinal pigment epithelium, and macula. In recent years, gene therapy has developed as a transformational approach, integrating molecular genetics, vector engineering, and precision medicine principles to target the fundamental causes of ARMD. Gene therapy has emerged as a promising substitute, an innovative approach to treating ARMD by replacing faulty genes with healthy ones. Viral non-integrating vectors, such as Adeno-Associated Viral (AAV), act as envelopes that carry encoded genetic messages without impacting native cellular DNA. This chapter addresses the evolving importance of precision gene therapy in ARMD management, emphasising developments in gene replacement techniques. The high potential and efficiency of this therapy could make it an effective method, providing hope for patients and future healthcare.

 

 

Author(s) Details

Asra Warees
Optometry Section, Paramedical College, Faculty of Medicine, Aligarh Muslim University, Aligarh, Uttar Pradesh, India.

 

Aleena Saeed
Optometry Section, Paramedical College, Faculty of Medicine, Aligarh Muslim University, Aligarh, Uttar Pradesh, India.

 

Wasil Hasan
Biochemistry Section, Paramedical College, Faculty of Medicine, Aligarh Muslim University, Aligarh, Uttar Pradesh, India.

 

Saima Ahsan
Optometry Section, Paramedical College, Faculty of Medicine, Aligarh Muslim University, Aligarh, Uttar Pradesh, India.

 

Mohd Faraz
Department of Radiodiagnosis, J.N. Medical College, Paramedical College, Faculty of Medicine, Aligarh Muslim University, Aligarh, Uttar Pradesh, India.

 

Please see the book here :- https://doi.org/10.9734/bpi/msraa/v11/6257

Emerging Gene and Cell Therapy Strategies for Rare Pediatric Genetic Disorders | Chapter 2 | Microbiology and Biotechnology Research: An Overview Vol. 4

 

Gene therapy in paediatrics is an innovative treatment approach for addressing various genetic disorders that present in childhood. Gene and cell therapies have been developed and approved for a growing number of pediatric diseases, with ongoing research for additional innovative treatment options for the future. Each therapy is tailored to the specific disease and targets a specific genetic alteration or cell population. The development of new therapies is a complex and regulated process, with strict oversight at regional and European levels. Gene therapy has three facets such as, gene silencing using siRNA, shRNA and miRNA; gene addition introducing a functional gene that contains instructions for the cell to produce a specific protein; and finally gene editing based therapy where mutations are modified using specific nucleases such as zinc-finger nucleases (ZFNs), transcription activator-like effector nucleases (TALENs) and clustered regulatory interspaced short tandem repeats (CRISPR)/CRISPR-associated protein (Cas)-associated nucleases. This review explores the emerging gene and cell therapy strategies for rare pediatric genetic disorders. The success of gene therapy in treating genetic diseases depends on understanding the specific characteristics and function of the relevant gene, the genetic changes that cause disease, and the regulatory systems that affect gene expression. Rare pediatric neurogenetic diseases typically manifest early in life, lack specific treatment options, have high mortality rates, and present a significant threat to children's health and survival. A one-time genetic approach is desirable in many rare pediatric diseases and has been established only in a few pediatric diseases to date. Rare genetic diseases in childhood are an important factor as a healthcare concern due to high costs for the healthcare system, especially in gene therapy.

 

Author(s) Details

 Stefan Bittmann
Department of Pediatrics, Ped Mind Institute, Hindenburgring 4, D-48599 Gronau, Germany and Shangluo Vocational and Technical College, Shangluo, 726000, Shaanxi, China.

 

Please see the book here:- https://doi.org/10.9734/bpi/mbrao/v4/5688

Mitochondria-Targeted Therapies for Neurodegenerative Diseases | Chapter 9 | An Overview of Disease and Health Research Vol. 1

 Many neurodegenerative illnesses, such as Alzheimer's disease (AD), Parkinson's disease (PD), Huntington's disease (HD), and amyotrophic lateral sclerosis (ALS), are characterised by mitochondriadysfunction. Neuronal degeneration is a result of alteration of mitochondrial dynamics, elevated oxidative stress, and impaired mitochondrial bioenergetics. One intriguing treatment approach to slow the progression of disease is to target the mitochondria. Recent developments in mitochondria-targeted medicine delivery, such as gene therapy, nanoparticles, small compounds, and mitochondrial transplantation techniques, are examined in this chapter. It also draws attention to the difficulties and potential uses of these tactics in healthcare settings.

 

Author (s) Details

Venkatalakshmi Ranganathan
Department of Pharmaceutics, Crescent School of Pharmacy, B.S. Abdur Rahman Crescent Institute of Science & Technology, Chennai-600048, India.

 

Preethi. M
Department of Pharmaceutics, Crescent School of Pharmacy, B.S. Abdur Rahman Crescent Institute of Science & Technology, Chennai-600048, India.

 

Roshni. N
Department of Pharmaceutics, Crescent School of Pharmacy, B.S. Abdur Rahman Crescent Institute of Science & Technology, Chennai-600048, India.

 

Sasikala Chinnappan
Department of Pharmaceutical Biology, UCSI University, Taman Connaught, 56000 Cheras, Malaysia.

 

Please see the book here:- https://doi.org/10.9734/bpi/aodhr/v1/5396

Gene Therapy: Examining the Current Progress | Chapter 3 | Achievements and Challenges of Medicine and Medical Science Vol. 9

In the past few years, the genetic field has achieved a fast pace in clinical research and trials. The research and various studies have indicated the future of human genotype to emerge as the new genetic world from the present nascent one. Gene therapy is the replacement of a defective gene with a normal gene constituent. Several methods for this have emerged and many more are evolving. Genetic involvement in the association of life on earth was found more than a century ago, but its implication in the medical field has been possible just a few years earlier. Still, gene therapy is in its very nascent stage and various experiments are going on. Availability of gene therapy for mass population with feasibility and safety can be made by the medical fraternity keeping patients till the time when research and trials in the genetic field will approve for it. This review will help in understanding the recent gene therapy trials which indicate the forthcoming era of the human genome and their applicability in overcoming the hurdles in treatments of various genetic disorders. The study concluded that gene therapy is not only helpful for the treatment of genetic disorders but also as an adjuvant for other regimens like chemotherapy for cancers etc. Therefore, a close watch on ongoing research and trials in the genetic field in search of better options for treating various disorders in human beings is necessary.

 

Author (s) Details

 

Sachin Phoolchand Yadav
Department of Anatomy, Grant Govt. Medical College and Sir J.J. Group of Hospitals, Mumbai- 400008, Maharashtra, India.

 

Please see the book here:- https://doi.org/10.9734/bpi/acmms/v9/3396

Chronicles of Change: Thalassaemia Prevention Across Time | Chapter 1 | Medical Research and Its Applications Vol. 6

Strategies for thalassaemia prevention have evolved significantly over time. Initially, they involved methods such as identifying thalassaemia during pregnancy and opting for termination in affected cases, conducting screenings before marriage, and employing pre-implantation genetic diagnosis alongside in vitro fertilization. However, recent advances, like gene therapy, have transformed the landscape of thalassaemia management. Gene therapy, rapidly evolving, targets a wide range of medical conditions, utilizing various vectors—both viral and non-viral—for gene delivery. Promising developments on the horizon include techniques like sperm immobilization, offering researchers the chance to explore ways of identifying and selectively immobilizing defective genes in easily accessible sperm samples. Yet, this task is complex due to the inactive nature of genes in sperm, necessitating the development of genetic probes for defective gene identification. As research progresses in these areas, it becomes crucial to comprehend the pros and cons of each approach. Therefore, a comprehensive approach is vital for effective thalassaemia prevention.

 

Author(s)details:-

 

Krishnapradeep S.
Faculty of Medicine, University of Peradeniya, Sri Lanka.

 

Mudiyanse RM
Faculty of Medicine, University of Peradeniya, Sri Lanka.

 

Please See the book here :- https://doi.org/10.9734/bpi/mria/v6/532

Potential of Gene Therapy as a Treatment for Colour Vision Deficiencies: Advances, Challenges, and Prospects | Chapter 8 | Recent Updates in Disease and Health Research Vol. 9

 

The objective of this research study is to explore the potential of gene therapy as a treatment for colour vision deficiencies, to improve colour discrimination and perception in affected individuals. Gene therapy has emerged as a promising approach for treating colour vision deficiencies, including red-green colour blindness. Gene therapy involves the delivery of therapeutic genes into target cells to correct genetic abnormalities and restore normal cellular function. Cell sensitivity, and improved colour discrimination in animal models. Furthermore, early clinical trials have reported encouraging outcomes, indicating the potential effectiveness and safety of gene therapy in humans. This study provides an overview of the advancements and challenges in gene therapy for colour vision. It highlights the genetic basis of colour blindness, the various gene therapy strategies employed, and the outcomes of preclinical and clinical studies. Gene therapy holds promise as a potential therapeutic avenue for addressing colour vision deficiencies, and ongoing research and clinical trials will continue to shed light on its effectiveness, safety, and long-term outcomes.

 

Author (s) Details

Mrs. Priyanka Patnaik (Associate Professor)

Acharya Institute of Allied Health Sciences, Bengaluru, India.

 

Please see the book:- https://doi.org/10.9734/bpi/rudhr/v9/188

An Overview on Thalassemia | Chapter 17 | Current Topics in Medicine and Medical Research Vol. 6

 Thalassemia is a genetic condition inherited from the parents of an individual. With 25,000 deaths in 2013, thalassemia is prevalent globally. The highest rates are in the Mediterranean, Italy , Greece, Turkey, West Asia, North Africa, South Asia , and Southeast Asia. Alpha and beta thalassemia incidence depends on how many of the four alpha genes or two beta globin genes are absent. There are two primary forms, Thalassemia alpha and beta. The most extreme type is β-thalassemia major, and the affected children are dependent for survival on daily blood transfusions. The production of abnormal antibodies is one of the major complications in chronically transfused patients and, in this case, further transfusion of compatible red cells is difficult. Hemoglobinopaties in the globin proteins themselves suggest irregularities. Health complications are mainly observed in large and intermediate patients with thalassemia. Extreme anaemia, slow growth and skeletal defects are the signs and symptoms transplant. Prevention is by premarital screening, carrier detection and prenatal testing. Bone Marrow Transplant (BMT) is still remains the only definitive cure available for patients with Thallassemia. Gene therapy for β- Thalassemia is still on trial and a hope for future. Genetic studies (DNA analysis) to investigate deletions and mutations in the alpha- and beta-globin-producing gene help in correct diagnosis and improved management in thalassemic patients. This topic will review the clinical features of thalassemia while focusing on pathophysiology, clinical features, complication, management, screening and diagnosis. In infancy. Eventually, untreated thalassemia leads to death, usually due to heart failure. Hematological checks, haemoglobin electrophoresis, and DNA analysis are used to make a diagnosis. Individuals with extreme thalassemia include deferoxamine, deferasirox, deferiprone, and bone marrow transplants for blood transfusion, drug therapy, i.e. Regular blood transfusions, iron chelation, splenectomy, and bone marrow are used to treat people with extreme anaemia.  In transplantation. Prevention is by premarital screening, identification of the carrier and prenatal monitoring. Marrow of bone The only definitive treatment available for patients with thallassemia remains a transplant (BMT). Gene therapy is already on trial for β-thalassemia, and there is hope for the future. Genetic experiments (DNA analysis) to study alpha- and beta-globin-producing gene deletions and mutations aid in correcting deletions and mutations.  Diagnosis and enhanced treatment of patients with thalassemia. The clinical features of thalassemia will be reviewed in this subject, focusing on pathophysiology, clinical features, complications, management, screening and diagnosis.

Author (s) Details

Dr. Dharmesh Chandra Sharma
Blood Transfusion Service, Cancer Hospital and Research Institute, Gwalior, India.

Dr. Sunita Rai
Department of Pathology, G. R. Medical College, Gwalior, India.

Dr. Prakriti Gupta
Department of Pathology, G. R. Medical College, Gwalior, India.

Dr. Sachin Singhal
Department of Pathology, G. R. Medical College, Gwalior, India.

View Book :- https://bp.bookpi.org/index.php/bpi/catalog/book/272

Recent Research in LNCaP Cells Inhibition of BCL-2 by Antisense Oligonucleotides Results in Compensatory Changes Involving Apoptosis,Transcription and Immunoregulation | Chapter 15 | Recent Research Advances in Biology Vol. 1

 

Antisense oligonucleotides (oligos) have been evaluated for treating prostate cancer in both in vivo

and in vitro models. This study evaluates the growth inhibition of in vitro propagating LNCaP cells

employing mono- and bi-specific oligos directed against BCL-2 and employing RT-PCR, the

expression of five apoptosis regulatory proteins (BCL-2, bax, caspase-3, clusterin, AKT-1), a tumor

associated transcription factor (MED-12) and an immune blockade associated regulatory marker (PDL1)

were evaluated. LNCaP prostate tumor cells were incubated in the presence of oligos specifically

directed against BCL-2 (entering the cells through a form of nanodelivery) and compared to lipofectin

containing controls. Significant, but comparable, growth inhibition was produced by both mono- and

bi-specific forms. Employing RT-PCR to determine BCL-2 expression, we found that the greatest

amount of mRNA suppression approached 100% for each type of oligo: Mono-specific MR4 (directed

only against BCL-2), 100%, and bispecifics MR24 and MR42, 86% and 100% respectively. The

objective of these experiments was to determine a compensatory response by cells to (again) evade

apoptosis in the presence of BCL-2 suppression. Levels of mRNA encoding non-targeted bax,

caspase-3, clusterin and AKT-1 were initially evaluated, while additional experiments sought to

identify additional mechanisms of tumor adaptability and resistance. Suppression of the apoptosis

inhibitor (BCL-2) in LNCaP cells did not alter either bax or clusterin expression. However, nontargeted

caspase-3 (an apoptosis promoter) was suppressed and non-targeted AKT-1 (an apoptosis

inhibitor) was enhanced. This suggests that tumor variants can resist apoptosis through the altered

expression of non-targeted regulators of apoptosis. Additional experiments identified other

mechanisms of compensation involving transcription and immune regulation suggesting further

studies are needed.

 

Author (s) Details

 

Marvin Rubenstein

Independent Researcher, 1070 Cobblestone Ct., Northbrook, IL 60062, USA.

View Book :- https://bp.bookpi.org/index.php/bpi/catalog/book/239

Gene Therapy in Sickle Cell Disease: Advanced Study | Chapter 2 | Emerging Research in Medical Sciences Vol. 4

Sickle cell disease (SCD) results from a homozygous missense mutation in the β-globin gene that leads to polymerization of hemoglobin S. Its clinical manifestations can be critical with considerable morbidity and mortality. SCD can be treated using bone marrow transplantation, but is restricted to only those patients having an appropriately matched donor. Hence, gene therapy, involving the patient’s own cells, either by gene insertion or gene editing is a primary therapeutic option to cure SCD. However, only a few clinical trials have been performed with genetic therapy for treating SCD. In recent years, significant progress has been made in the area of gene therapy for treating monogenic hemoglobin disorders. Numerous therapies are currently in clinical trial stages or in preclinical stages. The safety and efficacy of gene therapy has been greatly improved with the initial use of γ-retrovirus vectors, followed by next-generation lentivirus vectors and latest gene editing techniques. Although the clinical interpretation of gene therapy has been successful, it involves certain limitations including complex cellular abnormalities, inadequate transgene expression and challenges in achieving effective and persistent inhibition of polymerization of hemoglobin S. This review intends to discuss gene therapy strategies specific to SCD, present state of the field and current status of the gene therapy clinical trials.

Author(s) Details

Dr. Salma AlDallal
Kuwait Ministry of Health, Amiri Hospital, Sharq, Kuwait.

View Book :-  http://bp.bookpi.org/index.php/bpi/catalog/book/167