Research Article
Evaluating diagnosis and management gaps in wilson disease: results from a qualitative patient survey
Tamir Miloh, Mary Graper, Michael Schilsky
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A disease or disorder is defined as rare in Europe when it affects less than 1 in 2000, whereas in USA, disease or disorder is rare when it affects fewer than 200,000 at any given time. About 80% of rare diseases have identified genetic origins whilst others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative. About 7,000 types of rare disease are currently known to exist. Moreover, approximately 5 new rare diseases are identified each week, so we can expect the number of affected individuals to grow.
On average, it takes about 5 years for a rare disease to be correctly diagnosed. The rarity of some conditions signifies less probability of particular doctor to have never encountered the symptoms. Moreover, many rare diseases include similar symptoms, often leading to misdiagnosis, which delays appropriate disease management.
Advances in Rare Diseases is an open access journal that publishes original research and timely reviews on recent advances in the understanding of the processes responsible for and associated with rare diseases.
Topics of interest include, but are not limited to, genetics, gene expression, epidemiology, screening, diagnosis, prevention, treatment, health economics, regulatory issues and novel clinical findings.
Submit manuscript online by registering at Online Submission System or send as an attachment via e-mail to the Editorial Office at manuscripts@longdom.org
Editor’s Quote
“I am delighted to play a central role in facilitating the expression of new research findings and opinions regarding rare diseases. Not only are many millions of people afflicted by the vast number of documented rare diseases, but the impact on their lives is often severe. Indeed, many rare diseases have proven to be fatal without treatment, and there is therefore an urgent need for therapeutic developments in this area of medicine. Fortunately, new genome sequencing technologies have permitted rapid expansion of the molecular and mechanistic understanding of rare genetic diseases, thereby paving the way to new treatments and therapeutics. Research of rare diseases is therefore a most promising area of biomedical research, as it is likely to deliver major advances at multiple levels in coming years.”
Robin M. Scaife, PhD, Editor-in-Chief
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Advances in Rare Diseases is participating in the Fast Editorial Execution and Review Process (FEE-Review Process) with an additional prepayment of $99 apart from the regular article processing fee. Fast Editorial Execution and Review Process is a special service for the article that enables it to get a faster response in the pre-review stage from the handling editor as well as a review from the reviewer. An author can get a faster response of pre-review maximum in 3 days since submission, and a review process by the reviewer maximum in 5 days, followed by revision/publication in 2 days. If the article gets notified for revision by the handling editor, then it will take another 5 days for external review by the previous reviewer or alternative reviewer.
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Articles published in Advances in Rare Diseases have been cited by esteemed scholars and scientists all around the world. Advances in Rare Diseases has got h-index 1 , which means every article in Advances in Rare Diseases has got 1 average citations.