2/21/2018 0 Comments Your Rare Disease Day Primer!We have seen huge progress over the last several years with both genetic testing and treatment of rare diseases. As the medical community continues facing some of its greatest challenges, it is more important than ever that we continue to spread awareness of rare diseases and the advancements taking place. The last day of February each year is set aside and recognized as Rare Disease Day. As next Wednesday, February 28th, approaches, we wanted to send over a few resources that can be used to better educate both your staff and patients. RARE DISEASE FACTS
Check out this National Organization for Rare Disorders (NORD) rare disease fact sheet! A "rare disease," according to the definition used in the United States, is one that affects less than 200,000 people. There are approximately 7,000 such disorders and 80% have a genetic basis. It is estimated that one in 10 persons has a rare disorder, which would be roughly 30 million people in the United States. This might seem like a bit of an exaggeration, but think about all your friends and family members and see if it might be more realistic than you think. A rare disease list with basic information about each can be found here: https://rarediseases.info.nih.gov/diseases NEW CLINICAL RESEARCH Patients will often ask, "What's new?" While that is often a difficult question to answer, the National Institutes of Health maintains a database of clinical studies from around the world at https://clinicaltrials.gov. They are careful to point out that it is only a database and they are only listing them-not endorsing them or recommending them. There are two basic types of studies: observational and interventional. The goal of an observational study is to learn more about a type or group of disorders whereas an interventional study is to try a potential treatment. Gene therapy studies are classified as interventional. ADDITIONAL RESOURCES FOR CLINICIANS AND PATIENTS 1. Genetic and Rare Diseases (GARD): https://rarediseases.info.nih.gov/about-gard
3. Genetic Alliance: http://www.geneticalliance.org/ 4. PubMed: https://www.ncbi.nlm.nih.gov/pubmed
7. ICD codes for rare diseases:8. You can find a dedicated website for many disorders. Here are a few:
If you have any questions about genetic testing or how we might be able to help serve you and your patients in this area, please do not hesitate to give us a call at (205) 943-4600.
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AuthorThe staff and doctors at VisionAmerica are committed to providing relevant information for you, your patients and your practice. We hope you find the information in our blog post helpful. Archives
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