Today is Rare Disease Day and the rarest day of all, as this year’s occurrence takes place on February 29!
In the U.S., spinal muscular atrophy (SMA) affects nearly 9,000 people. Yet, the SMA community is part of a greater community, the rare disease community, that comprises of 300 million people worldwide. Together, we create an even stronger voice to raise awareness and educate others about SMA and other rare diseases that seldom get noticed.
Research Brings Hope to Those Affected by Rare Disease
A priority of Rare Disease Day is to bring awareness to rare disease research. Through research, we can further develop effective treatments for SMA, and identify the best way to care for those affected by SMA.
Earlier this month, we announced $750,000 in new basic research grants. Cure SMA’s top basic research priorities currently include:
- Learning more about when and where the survival motor neuron (SMN) protein is needed and how it functions in the body.
- Finding new ways to treat SMA, especially those that can be used in combination with approved drugs.
- Using cellular or animal models to better understand the SMA disease process.
- Developing new tools for SMA research, such as new SMA animal models and new ways of tracking disease progression.
Advocacy Turns Hope into Action
Advocacy, Rare Disease Day’s other primary focus, is also especially important to our community. Today, U.S. Transportation Secretary Pete Buttigieg and White House officials announced that the U.S. Department of Transportation (DOT) plans to improve air safety for individuals who use wheelchairs, including passengers with SMA. The proposed rule would help to address challenges and implement recommendations identified by the SMA community in Cure SMA’s recent air travel report.
Additionally, our advocacy team actively works to advance the following policy goals:
- Ensure early detection and treatment for SMA.
- Ensure young adults and adults with SMA have the support services they need.
- Ensure research funds new treatments and therapies for all people with SMA.
- Ensure full and timely access to SMA treatments, therapies, and needed equipment.
Your Support Means Continued Progress
In honor of Rare Disease Day, please make a meaningful donation to Cure SMA. Your donation will fund the next breakthroughs in research and treatments, and help expand our advocacy and support programs.
Together, we will create a better future for everyone living with SMA.