"When Rare Becomes Common”, an editorial in the April 2017 issue of the Pharmaceutical Executive, points out that seven years is the average time it takes an individual to get a correct diagnosis for a rare disease in the United States. In a twisted story parents that were unwilling to accept their doctor’s colic diagnosis saved their four-month-old from liver failure due to a rare hereditary disorder. The disease is discoverable by newborn blood screening and treated with drugs. The piece defines rare disease in the US as one that occurs in less than 200,000 Americans at a given time. In Europe, a disease is characterized as rare when it affects fewer than one in 2,000.
Common diseases have phenotypes or subtypes. Drugs may only work in a sup-population of those diagnosed with a specific gene. Unfortunately people that take statins who have a certain genetic profile are at increased risk to die from muscular wasting.
You are unique, defined by your genetic profile. The human genome is mapped. But you are defined by a combination, and sometimes a variant, of those genes. It’s important because cures come by addressing the specific gene’s mechanism. Each of us have variant genes. Some drugs work for all of us, one drug may work better for your genetic makeup, and possibly a drug should not be used because of a variant gene you possess.
“All the individualized variants are rare, but then the rare becomes the norm.”
The International Rare Diseases Research Consortium (human) was launched in 2011 to facilitate cooperation and collaboration on a global scale among those active in rare disease research and maximize the output of rare disease R&D efforts around the world. What drives this group are policies and guidelines for data sharing and standards, diagnostics, biomarkers, biobanks, models, publication, intellectual property, and communication. There are three scientific committees that guide the work: diagnostics, interdisciplinary, and therapies—and three constituent committees: funders, companies, and patient advocacy. This model resulted in 200 new therapies four years earlier than expected.
Rare Disease Day occurs on February 28, participants host events that help create more awareness of and support for research collaborations that bring hope to patients.
Equine protozoal myeloencephalitis is a rare and unsolved problem worthy of EPM Awareness Day or maybe Protozoa Awareness Day. Sarcocystosis is a common disease and is perhaps linked to the EPM syndrome. We look forward to participating in the upcoming 2nd EPM workshop. Organism biology, diagnosis, treatment and prevention are topics that will be discussed by clinicians, researchers, and industry companies, each with diverse interests in the field of EPM. The meeting is in October, we will present our data on S. fayeri sarcocystosis and three inflammatory diseases that look like EPM.