What Is Rare Disease Day?
February 28, 2019

What Is Rare Disease Day?

What Is Rare Disease Day

Rare Disease Day is a day of observance to raise awareness for rare diseases. It was created in 2008 by the European Organization for Rare Diseases with the goal of improving access to treatment and increasing representation for those affected by rare diseases.

In 2009, Rare Disease Day became an international movement, and today it is held annually on the last day of February in many countries across the globe. But despite this rapid growth, more support is needed. Patients and families often struggle to make sense of rare diseases.

Historically there has been little information available, and the diagnosis was complicated. Thankfully, things are changing. Now with the consumer genetics, ordinary people are finding it much easier to determine if they or their loved ones have a rare disease.

Learn More About Rare Diseases

A rare disease refers to a disorder that affects a small percentage of the population at any given time. For example, in the United States, a rare disease is defined as a disease that affects less than 200,000 individuals, while in the European Union, it affects fewer than 1 in 2,000 individuals.

Rare diseases might also be called orphan diseases according to the Orphan Drug Act of 1983. This act was created to support incentive programs to develop new drugs and treatment options for rare diseases.

Rare diseases can be heritable or nonheritable. The majority are thought to be heritable, which means directly caused by abnormalities in genes or chromosomes.

Rare diseases are usually progressive and very disabling. Making a diagnosis for a rare disease can often be challenging, and healthcare professionals typically request genetic tests in order to confirm the diagnosis.

Early diagnosis results in prompt care treatment that may reduce the likelihood of long-term disability complications.

 

How Can I Test for Rare Diseases?

If you fear that a loved one may have, or may inherit, a rare disease, DNA testing and analysis may help. For example, a DNA test can indicate that you 'carry' a rare disease. This means you aren't affected by the disease but your children may be.

Using the Rare Disease Screen app on Sequencing.com, you can analyze your DNA for more than 1,200 rare diseases, syndromes, conditions, and traits.

Best of all, to honor Rare Disease Day, we are offering our Rare Disease Screen app for 50% off. Use coupon code DISCOVER at checkout. Expires Sunday, March 3, 2019.

Categories:
Blog
Tags:
Health
Rare
Sequencing.com Hopes to Shepherd Growing Market of DIY Genomics Tools
September 27, 2016
NEW YORK (GenomeWeb) – Sequencing.com, a new company hoping to play a unique role in the future of personal genomics, announced its global launch last week. The last few years have seen the emergence and propagation of companies that help users in possession of their own genetic data to access and understand what this information...
Gene-Driven Plan for Health | Medical Whole Genome Sequencing
June 23, 2016
"Genomics has reached a point," Colby tells the Tribune, "where we can use a patient's genetic information to personalize health care and lifestyle. We now have the ability to outsmart our genes to protect our health and longevity."
Using Sequencing.com for DNA Raw Data Analysis and Genetic Genome Data Analysis powered by a DNA app marketplace.
August 30, 2018
Have you had a DNA test? If you have, then you likely also have access to your DNA data. The apps in Sequencing.com's market enable you to transform DNA raw data into understandable, personalized guidance for optimizing health, wellness and longevity. There are also apps for viewing, searching and exploring your DNA data...