'We can't wait': Life-saving cystic fibrosis drugs hard to access, advocates say

Hundreds of Albertans sent letters to Health Minister Tyler Shandro earlier this month, calling on the province to make cystic fibrosis drugs more accessible, and to support the development of a federal strategy on rare diseases.
Source: CBC | Health - Category: Consumer Health News Tags: News/Canada/Edmonton Source Type: news

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AbstractATP-binding cassette (ABC) transporters constitute a superfamily of 48 structurally similar membrane transporters that mediate the ATP-dependent cellular export of a plethora of endogenous and xenobiotic substances. Importantly, genetic variants inABC genes that affect gene function have clinically important effects on drug disposition and can be predictors of the risk of adverse drug reactions and efficacy of chemotherapeutics, calcium channel blockers, and protease inhibitors. Furthermore, loss-of-function of ABC transporters is associated with a variety of congenital disorders. Despite their clinical importance,...
Source: Human Genetics - Category: Genetics & Stem Cells Source Type: research
Abstract Estimates point to more than seven thousand rare diseases already identified, representing 6 to 10% of all diseases. In Brazil, a rare disease is defined as one that affects up to 65 persons per 100,000. The quantification of costs for the families of patients with such conditions and their impact on income provides information capable of supporting public policies for these youngsters. The study aimed to estimate the cost and loss of earnings, viewed from the perspective of families of children and adolescents with cystic fibrosis, mucopolysaccharidosis, and osteogenesis imperfecta. The study included 99...
Source: Cadernos de Saude Publica - Category: International Medicine & Public Health Authors: Tags: Cad Saude Publica Source Type: research
Advocates for the rare disease cystic fibrosis are joining forces to gain the attention of the country’s premiers as they meet in Saskatoon.
Source: CBC | Health - Category: Consumer Health News Tags: News/Canada/Saskatoon Source Type: news
CONCLUSIONS: The observed prevalence of RD, based on NBS, corresponds to that expected, more precisely it was higher for BTD and lower for MSUD, IVA, CBSD HCU, MCADD and VLCADD. Early detection of rare diseases by means of NBS is an effective secondary prevention tool. PMID: 31241292 [PubMed - in process]
Source: Central European Journal of Public Health - Category: International Medicine & Public Health Tags: Cent Eur J Public Health Source Type: research
An estimated 30 million Europeans are affected by rare illnesses such as cystic fibrosis or Huntington’s disease. On February 28, Rare Disease Day, the E.U. launched a new a web-based knowledge-sharing registration platform to give researchers, policymakers, and patients expanded access to data to support better diagnosis and treatment. Around 600 individual rare disease registries exist in Europe, each managed by individual hospitals, research institutions, pharmaceutical companies, or patient advocacy groups. The new platform aims to promote the interoperability of data across these registries.    &...
Source: The Commonwealth Fund: Publications - Category: International Medicine & Public Health Source Type: research
There ’s been an odd-sounding word circulating in the English headlines recently.The word is Orkambi; a drug created by Vertex that treats approximately 40% of people born with the genetic condition, cystic fibrosis. It is the second drug to market in a promising pipeline that targets the CFTR mutation.   True gene therapy it isn’t, but it represents a near-first for a biotech firm, by successfully altering the shape and function of a protein[1]. And priced at £105,000 per patient per year, it is the latest in a long line of medicines the NHS can’t afford.Orkambi has been licensed by the EMAsin...
Source: EyeForPharma - Category: Pharmaceuticals Authors: Source Type: news
Elvira Sondo1, Roberta Bertelli2, Emanuela Pesce1, Gian Marco Ghiggeri2 and Nicoletta Pedemonte1* 1UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, Genova, Italy 2UOC Nefrologia, IRCCS Istituto Giannina Gaslini, Genova, Italy Neutrophils migrate to sites of infection where they phagocytose, degranulate, and/or, in the presence of appropriate stimuli, release decondensed chromatin strands (called neutrophil extracellular traps, NETs) for trapping and possibly killing microorganisms. NET formation is characterized by marked morphological cell changes, in particular within the nucleus. Lytic NET formation can ...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
Reena Goswami1, Gayatri Subramanian2, Liliya Silayeva1, Isabelle Newkirk1, Deborah Doctor1, Karan Chawla2, Saurabh Chattopadhyay2, Dhyan Chandra3, Nageswararao Chilukuri1 and Venkaiah Betapudi1,4* 1Neuroscience Branch, Research Division, United States Army Medical Research Institute of Chemical Defense, Aberdeen, MD, United States 2Department of Medical Microbiology and Immunology, University of Toledo College of Medicine and Life Sciences, Toledo, OH, United States 3Roswell Park Comprehensive Cancer Center, Buffalo, NY, United States 4Department of Physiology and Biophysics, Case Western Reserve University, Clev...
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
In healthcare, we have kept notes on people with diseases for over 4000  years [1]. These have been a combination of subjective commentary and objective measurement. In the past 30 years recording data on patients has been systematised through disease registries and electronic patient records (EPR). We now have extensive registries in many diseases with robust cross -sectional and more importantly, longitudinal collections of data. Registries have shown considerable utility in common and rare diseases [2,3].
Source: Journal of Cystic Fibrosis - Category: Respiratory Medicine Authors: Tags: Editorial Source Type: research
In conclusion, a large number of approaches based on targeting microRNAs and long non-coding RNAs are expected in the field of molecular diagnosis and therapy, with a facilitated technological transfer in the case of rare genetic diseases, in virtue of the existing regulation concerning these diseases.
Source: Molecular Diagnosis and Therapy - Category: Molecular Biology Source Type: research
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