Making Connections
We're bringing the benefits of genetic research to those who need it the most. |
RARE GENOMICS NEWSLETTER DECEMBER 2021
Stay updated on the latest services, collaborations, and opportunities we have. At the same time, we'll share ways you can help us advocate for the needs of rare disease families. With your input and support, we can find new ways to do more! |
AstraZeneca's Book Series |
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Rachel Pegram, a mother with the rare disease myasthenia gravis (gMA), partnered with AstraZeneca’s rare disease unit to write a children's book to help parents talk to their kids about living with a rare disease. “Klara’s Talent” is about a mommy koala with gMA and it addresses the guilt parents feel when their disease keeps them from being present in every special moment. This book is the first of AstraZeneca’s book series based on real patients with families affected by rare disease. Their second book is titled, "A Day With Nurse Jen", which follows a real life pediatric nurse who treats pediatric patients with the rare disease, atypical hemolytic uremic syndrome (aHUS). As AstraZenca continues to release more books, we hope to encourage our community to pursue similar initiatives and creative ways to support the rare disease community. You can purchase book through AstraZenca's Alexion patient advocacy groups and through its patient support program OneSource. |
Rare Disease Thursday Infographics |
One of Rare Genomics Institute's education initiatives is their Rare Disease Thursdays where we shed light on one rare disease a week and provide an infographic breaking down one fundamental biological or medical concept about the disease. This month we focused on four rare diseases, including Dopamine-Responsive Dystonia (DRD) and Fibrodysplasia ossificans progressiva (FOP). You can learn about what dystonia or ossification are in the infographics below. Dopa-responsive dystonia, is a disorder that involves involuntary muscle contractions, tremors, and other uncontrolled movements. A common form of dopa-responsive dystonia is called Segawa's disease or DYT5 dystonia, both caused by mutations in the GTP-CH1 gene. Treatment includes levodopa or carbidopa, and the prevalence is 1 in a million.. Learn about this community or find your community at Rareshare or RG. |
Fibrodysplasia ossificans progressiva (FOP) is a disorder in which skeletal muscle and connective tissue, such as tendons and ligaments, are gradually replaced by bone (ossified) causing restricted movement. The genetic diagnosis is made by detecting a mutation in the ACVR1 gene. The prevalence is 1-2 in 1,000,000 and there are 10 clinical trials underway for this condition. Learn about this community or find your community at Rareshare or RG |
At the Rare Genomics Institute (RG), we assist families of those with rare conditions by providing access to genetic testing. Our work often leads patients to research, diagnosis, and even treatment. But we CANNOT do it alone – We need your help!
Giving Tuesday (November 30th) is a day in which people worldwide pledge to come to the aid of others. We realize it has passed, but that does not mean you have to stop giving. Consider donating a portion of your holiday gift budget to RG.
The holidays can be a tough time for families, especially for those without access to quality healthcare. Any contribution, no matter the amount, will make a difference in the lives of people living with rare diseases.
Thank you for your support!
Sincerely,
The Staff at the Rare Genomics Institute
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RG’s dedicated and talented volunteers deliver remarkable results for families in need of genetic sequencing services. We come from diverse backgrounds but work as a team to help people directly. We love what we do and we’re always looking for professional teammates. To learn a bit more about who we are and why we volunteer, watch the video above. |
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Support Rare Genomics Institute with Every Amazon Purchase
You can now support Rare Genomics Institute each time you make a purchase through the Amazon app on your mobile phone! All you have to do is enable AmazonSmile, a program that donates 0.5% of your eligible purchases to us, at no extra cost. It’s an easy way to make every purchase count.
Follow these steps to turn on AmazonSmile on your iOS or Android device :
1. Open the Amazon shopping app on your mobile device
2. Go into the main menu and tap into “Settings”
3. Tap “AmazonSmile” and follow the on-screen instructions to complete the process
Thank you for supporting the important work we do. |
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