Article extrait du site Orphanews Europe
Noonan syndrome is a genetic disorder characterised by abnormal development of various parts of the body, including unusual facial characteristics, short stature, bleeding problems, heart defects, skeletal malformations and eye abnormalities. The cause is a mutation in one of two genes responsible for making a specific type of protein that is crucial for the formation of several types of tissue during development. This new book provides an in-depth discussion on the disorders of the Ras-MAPK pathway (Noonan-, cardio-facio-cutaneous-, Costello-, and LEOPARD syndromes). The articles treat both the clinical and molecular data exhaustively and give the reader a timely update and outline of these related disorders. This book is aimed for clinical geneticists, paediatricians, paediatric cardiologists and paediatric endocrinologists, as well as human molecular geneticists and other basic researchers working on the RAS pathway.

Challenges to obtaining optimal rare disease therapy

An article that was published in the Proceedings of the Western Pharmacology Society, entitled Optimal therapy for rare disorders and genetic diseases: ethical and political challenges compares the definitions of rarity between the USA, Australia and the European Union and explores how variations in understanding terminology can impact scientific progress. Differences between the significance genetic predisposition is accorded pose similar obstacles. The author lists impediments blocking the process of treatment development for rare diseases that science alone cannot overcome. Most of these are well known to anyone working in the field. The author concludes that health technology assessment must encompass the values of the individual and the society and not be limited to an exclusively utilitarian perspective.

Consult the PubMed abstract

An ode to early failure (and to the critical path initiative of the FDA)

An article published recently in the Journal of Medicine and Philosophy considers how the US Food and Drug Administration (FDA) can best assist in the translation of medicinal products from bench to bedside. High R&D costs are forcing companies to make short-sighted business plans that often exclude the potentially risky breakthrough products that target rare diseases. The FDA’s critical path initiative, a programme designed to speed the development of drugs to market, is heralded as an instrument that aids companies navigate the rocky road leading to successful product development. To be more efficient, this initiative needs development tools that can better predict a drug development cycle and bring down research costs by allowing industry to identify product failures earlier. With an estimated 50% of drugs under development failing in Phase 3, the author considers the implications of helping companies fail earlier: a 10% improvement in predicting failure before clinical trials could save $100 million (€77 million) in development costs; shifting 5% of clinical failures from Phase 3 to Phase 1 would reduce out of pocket costs by $15–$20 million (€11-€15 million); and shifting one-fourth of failures from Phase 2 to Phase 1 would save $12–$21 million (€9-€16 million). To be most effective the critical path initiative and government regulatory agencies must achieve a complementary (versus competitive) working relationship. The author calls for continued and enhanced cooperation between regulators and industry, patient groups and legislators, and the FDA and European Medicines Agency (EMEA), in order to make the 21st century the “Biomedical Century”.

Consult the PubMed abstract

Now is the time for all good researchers to come to the aid of their patients

In a recent article published in the review Molecular Genetics and Metabolism, the authors describe Clinical research for rare disease: Opportunities, challenges, and solutions. Molecular genetics have characterised the cause of many rare diseases and provide unprecedented opportunities for identifying patients, determining phenotypes, and devising treatments to prevent, stabilise, or improve each disease. Rare disease research poses particular challenges to investigators, particularly in terms of designing clinical studies, accessing adequate funding, developing treatments, and training of clinical scientists. For trainees interested in finding a treatment for a rare disease, a commitment to longitudinal care of patients provides a base for the characterisation of phenotype and natural history, a stimulus for innovation, a target population for research and helps fund training and research. The authors describe how the scientific methodology, financial resources, and logistics of clinical research for rare diseases have changed dramatically in the past two decades, resulting both in increased understanding of the pathophysiology of these disorders and in benefits to patients and their families. Indeed, in their conclusion, the authors state that “although challenges specific to studying rare diseases remain, the opportunities for contributing to exciting scientific discoveries, forging successful research careers, and, most importantly, improving the lives of people with rare diseases have never been better”. Hooray!

Consult the PubMed abstract

Author: M. Zenker, Ed.

Publisher: S. Karger AG (Switzerland)

ISBN 978-3-8055-8653-5


Tagged with →  
Share →