Since 2008 in Europe and 2009 in the US, the last day of February is marked as Rare Disease Day. In less than 10 years, Rare Disease Day (and #RareDiseaseDay) has grown from a centralized effort to bring attention to these disorders by patient organizations in Europe to an international awareness and action day that includes patients, legislators, research funders, scientists and clinicians.
It is estimated that 350 million people worldwide suffer from rare diseases, defined regionally according to prevalence. In the European Union a rare disease is one that affects less than 1 in 2,000 patients while in the United Kingdom the qualification is less than 50,000 patients and in the United States the classification is less than 200,000 patients. Regardless, rare diseases usually have a genetic basis and are frequently progressive, disabling and with time, life-threatening. There are currently more than 7,000 different types of rare diseases and disorders, according to the rare disease patient advocacy organization Global Genes.
Those interested in general concepts related to rare disease and treatments or drug development can look to recent PLOS articles covering “Clinical Practice Guidelines for Rare Diseases: The Orphanet Database,” “Profitability and Market Value of Orphan Drug Companies: A Retrospective, Propensity-Matched Case-Control Study” and “Access to Orphan Drugs: A Comprehensive Review of Legislations, Regulations and Policies in 35 Countries.”
Research is the theme of Rare Disease Day 2017 with the slogan “With research, possibilities are limitless.”
Research published in PLOS journals is a testament to the dedication of scientists working on these diseases that often have less funding and attention than other biomedical issues, and the willingness of these scientists to go beyond publishing Open Access to make their data available for the rare disease community is critical to accelerate a path forward to uncover treatments and cures.
Image Credit: Michael Bamshad et. al.; video frame
Coincidentally, one of this year’s finalists for the Open Science Prize, given for unique insights developed from shared data, is described in this video “MyGene2: Accelerating Gene Discovery with Radically Open Data Sharing.” Researchers at the University of Washington created the web portal MyGene2 as a place for people with rare genetic mutations to connect with others that share the condition and with researchers interested in their particular mutation. Michael Bamshad, PLOS author and professor and chief of the Division of Genetic Medicine in the Department of Pediatrics at the University of Washington & Seattle Children’s Hospital, describes this Open Science resource in a RARECast podcast interview, “Helping Patients with the Same Undiagnosed Genetic Condition Find Each Other.” Research from Bamshad’s group also includes PLOS ONE articles on the implications of fine-scale patterns of population ancestry on rare variant genome-wide association studies, genetic variation and risk for symptomatic West Nile Virus infection and disease progression and the PLOS Genetics article discussing mutations and a rare-disease inheritance model applied to congenital heart disease.
In addition to data sharing, opportunities to improve diagnoses stem from genetic sequencing advances, as described in improving the identification of cancer-associated genes and co-occurrence of rare diseases and resolution of a complex phenotype by next-gen sequencing.
Rare Disease Day is a chance to draw attention to the research and policies needed to advance understanding of these disorders that challenge the lives of so many. This year’s theme, “with research, possibilities are limitless” meshes well with the community PLOS serves as a science, technology and medicine Open Access publisher. A small sample of new research on rare diseases from PLOS authors is highlighted below:
- Disruption of Higher Order DNA Structures in Friedreich’s Ataxia (GAA)n Repeats by PNA or LNA Targeting
- Lymphoblast Oxidative Stress Genes as Potential Biomarkers of Disease Severity and Drug Effect in Friedreich’s Ataxia
- Stem Cells from Wildtype and Friedreich’s Ataxia Mice Present Similar Neuroprotective Properties in Dorsal Root Ganglia Cells
- Myopathic Lamin Mutations Cause Reductive Stress and Activate the Nrf2/Keap-1 Pathway
- A Novel Lamin A Mutant Responsible for Congenital Muscular Dystrophy Causes Distinct Abnormalities of the Cell Nucleus
- The Mutant Form of Lamin A that Causes Hutchinson-Gilford Progeria Is a Biomarker of Cellular Aging in Human Skin
- Glucocerebrosidase Deficiency in Drosophila Results in α-Synuclein-Independent Protein Aggregation and Neurodegeneration
- MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria
- GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction