Editorial Cite This: ACS Chem. Neurosci. 2017, 8, 2349-2349
pubs.acs.org/chemneuro
Embarking on a 5 Year Journey to Highlight Genetic and Rare Diseases of the Central Nervous System
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id you know that there are hundreds of genetic and rare (also referred to as orphan) disease specific to the central nervous system, and that most currently have no treatment options? Over the next 5 years, ACS Chemical Neuroscience will feature one to two editorials/month highlighting genetic and rare CNS diseases/disorders, in hope that this will spur new research in these neglected areas of significant unmet medical need. Where can you find out more information on these rare CNS diseases/disorders? Check out GARD, or the Genetic and Rare Disease Information Center (https://rarediseases.info.nih. gov/GARD). GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH) via NCATS and the National Human Genome Research Institute (NHGRI). GARD provides the public with access to current, reliable, and easy-to-understand information about rare or genetic diseases, as well as detailed information for researchers. In the United States, a rare disease is defined as one that affects less than 200 000 people, but other countries adhere to alternate metrics. Despite subtle differences, GARD provides support to ∼25 million American patients diagnosed with one of over 7000 rare diseases, classified as such today. A major challenge in developing new therapeutics for rare diseases is the small patient population, and the challenges in the cost of drug development. Perhaps NCATS and/or nonprofit biopharmaceutical companies will emerge to tackle these diseases. Until then, we will raise awareness and encourage basic scientists to tackle the neuropharmacology, animal model, and tool compound development to build foundations for future translational science. Next month, we will begin our Journey with an editorial on Fatal Familial Insomnia (FFI), a rare autosomal dominant prion disease that destroys the thalamus, wherein patients lose the ability to sleep. The disease rapidly progresses upon diagnosis, and the inability to sleep leads to mood disturbances, psychosis, and death within 18 months. We will delve into the history, genetics, neuropharmacology, and disease stages of FFI next month, as well as provide links to seminal videos of FFI patients that document the disease. We will also touch upon a high profile case of FFI in the lay press that offers hope and inspiration. This is a great time to work in the neuroscience field. For all of the genetic and rare CNS diseases, we will spotlight over the next 5 years, we should all contemplate that patients and families are waiting for hope and innovation in this space. Also, I encourage submissions on these topics and specific rare or genetic CNS diseases/disorders as Reviews, Viewpoints, Letters, and Articles. As always, ACS Chemical Neuroscience has no publication charges, no fee for color, and flexibility with page length/number of figures/tables and is eager for author ideas for cover art!
Craig W. Lindsley: 0000-0003-0168-1445 Notes
Views expressed in this editorial are those of the author and not necessarily the views of the ACS.
Craig W. Lindsley, Editor-in-Chief © 2017 American Chemical Society
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Published: November 15, 2017 2349
DOI: 10.1021/acschemneuro.7b00401 ACS Chem. Neurosci. 2017, 8, 2349−2349
