Abstract
Since the discovery of the CFTR gene mutations which cause cystic fibrosis (CF) in 1989 the average life expectancy of CF patients has almost doubled and now exceeds 37 years. The advances in molecular diagnostics and medical treatments expanded beyond the CF patient population as some of the newest treatments are also being tested for treatment of complex diseases such as COPD and other inherited disorders. Rapid development of CF therapeutics is important for the cystic fibrosis community and is an excellent example for other nonprofit organizations, disease foundations and pharmaceutical companies alike. Better understanding of disease variability and underlying molecular mechanisms through genetic association studies aimed to identify novel CF modifier genes opens new venues for targeted drug design. Furthermore, these genetic studies allow development of molecular diagnostic tests for patient population stratification and treatment personalization, which is already being done for CF patients with specific mutations in the CFTR gene, as well as implementation of new molecular tests for reliable assessment of disease progression and severity
Keywords: Cystic fibrosis, lung disease, meconeum ileus, Pseudomonas infections, modifier genes, pancreatitis, CF-related diabetes, liver disease, drug design, mutations
Current Pharmaceutical Design
Title: Modifier Gene Studies to Identify New Therapeutic Targets in Cystic Fibrosis
Volume: 18 Issue: 5
Author(s): Ruslan Dorfman
Affiliation:
Keywords: Cystic fibrosis, lung disease, meconeum ileus, Pseudomonas infections, modifier genes, pancreatitis, CF-related diabetes, liver disease, drug design, mutations
Abstract: Since the discovery of the CFTR gene mutations which cause cystic fibrosis (CF) in 1989 the average life expectancy of CF patients has almost doubled and now exceeds 37 years. The advances in molecular diagnostics and medical treatments expanded beyond the CF patient population as some of the newest treatments are also being tested for treatment of complex diseases such as COPD and other inherited disorders. Rapid development of CF therapeutics is important for the cystic fibrosis community and is an excellent example for other nonprofit organizations, disease foundations and pharmaceutical companies alike. Better understanding of disease variability and underlying molecular mechanisms through genetic association studies aimed to identify novel CF modifier genes opens new venues for targeted drug design. Furthermore, these genetic studies allow development of molecular diagnostic tests for patient population stratification and treatment personalization, which is already being done for CF patients with specific mutations in the CFTR gene, as well as implementation of new molecular tests for reliable assessment of disease progression and severity
Export Options
About this article
Cite this article as:
Dorfman Ruslan, Modifier Gene Studies to Identify New Therapeutic Targets in Cystic Fibrosis, Current Pharmaceutical Design 2012; 18 (5) . https://dx.doi.org/10.2174/138161212799315920
DOI https://dx.doi.org/10.2174/138161212799315920 |
Print ISSN 1381-6128 |
Publisher Name Bentham Science Publisher |
Online ISSN 1873-4286 |
Call for Papers in Thematic Issues
"Tuberculosis Prevention, Diagnosis and Drug Discovery"
The Nobel Prize-winning discoveries of Mycobacterium tuberculosis and streptomycin have enabled an appropriate diagnosis and an effective treatment of tuberculosis (TB). Since then, many newer diagnosis methods and drugs have been saving millions of lives. Despite advances in the past, TB is still a leading cause of infectious disease mortality ...read more
Current Pharmaceutical challenges in the treatment and diagnosis of neurological dysfunctions
Neurological dysfunctions (MND, ALS, MS, PD, AD, HD, ALS, Autism, OCD etc..) present significant challenges in both diagnosis and treatment, often necessitating innovative approaches and therapeutic interventions. This thematic issue aims to explore the current pharmaceutical landscape surrounding neurological disorders, shedding light on the challenges faced by researchers, clinicians, and ...read more
Emerging and re-emerging diseases
Faced with a possible endemic situation of COVID-19, the world has experienced two important phenomena, the emergence of new infectious diseases and/or the resurgence of previously eradicated infectious diseases. Furthermore, the geographic distribution of such diseases has also undergone changes. This context, in turn, may have a strong relationship with ...read more
Melanoma and Non-Melanoma Skin Cancer Treatment: Standard of Care and Recent Advances
In this thematic issue, we aim to provide a standard of care of the diagnosis and treatment of melanoma and non-melanoma skin cancer. The editor will invite authors from different countries who will write review articles of melanoma and non-melanoma skin cancers. The Diagnosis, Staging, Surgical Treatment, Non-Surgical Treatment all ...read more
- Author Guidelines
- Graphical Abstracts
- Fabricating and Stating False Information
- Research Misconduct
- Post Publication Discussions and Corrections
- Publishing Ethics and Rectitude
- Increase Visibility of Your Article
- Archiving Policies
- Peer Review Workflow
- Order Your Article Before Print
- Promote Your Article
- Manuscript Transfer Facility
- Editorial Policies
- Allegations from Whistleblowers
- Announcements
Related Articles
-
Albumin Competitively Inhibits Glycation of Less Abundant Proteins
Protein & Peptide Letters Critical Limb Ischemia: Definition and Natural History
Current Drug Targets - Cardiovascular & Hematological Disorders Antiepileptics and the Treatment of Neuropathic Pain: Evidence from Animal Models
Current Pharmaceutical Design Therapeutic Angiogenesis: Recent and Future Prospects of Gene Therapy in Peripheral Artery Disease
Current Gene Therapy The Discovery and Development of Drug Combinations for the Treatment of Various Diseases from Patent Literature (1980-Present)
Current Topics in Medicinal Chemistry Mitochondrial Mutations in Atherosclerosis: New Solutions in Research and Possible Clinical Applications
Current Pharmaceutical Design Molecular Based Drug Targets for Idiopathic Pulmonary Fibrosis
Current Respiratory Medicine Reviews Identification of Novel Anti-inflammatory Agents from Ayurvedic Medicine for Prevention of Chronic Diseases: “Reverse Pharmacology” and “Bedside to Bench” Approach
Current Drug Targets Mitochondrial, Metabolic and Genotoxic Effects of Antiretroviral Nucleoside Reverse-Transcriptase Inhibitors
Anti-Infective Agents in Medicinal Chemistry Uveitis in Rheumatic Diseases
Current Rheumatology Reviews Recent Medicinal Chemistry Approach for the Development of Dipeptidyl Peptidase IV Inhibitors
Current Medicinal Chemistry Tackling Chronic Pain and Inflammation through the Purinergic System
Current Medicinal Chemistry Atrial Fibrillation with a Focus on Oral Antiarrhythmic Therapy
Current Drug Therapy Management of Statin-Intolerant High-Risk Patients
Current Vascular Pharmacology Proteomic Analysis of Aqueous Humor Proteins Associated with Neovascular Glaucoma Secondary to Proliferative Diabetic Retinopathy
Current Proteomics Molecules to Selectively Target Receptors for Treatment of Pain and Neurogenic Inflammation
Recent Patents on Inflammation & Allergy Drug Discovery Self-care improvement after a pharmaceutical intervention in elderly type 2 diabetic patients
Current Diabetes Reviews Targeting Pain-evoking Transient Receptor Potential Channels for the Treatment of Pain
Current Neuropharmacology Current Updates on Bone Grafting Biomaterials and Recombinant Human Growth Factors Implanted Biotherapy for Spinal Fusion: A Review of Human Clinical Studies
Current Drug Delivery Rationally Designed Multitarget Agents Against Inflammation and Pain
Current Medicinal Chemistry