Wow, what a great finish for author Deborah Katz and her lovely book! The Kickstarter campaign exceeded its $28,000 target with over $40,000 raised to fund the first print run of the book. We hope there will be many more print runs and now the hard work begins for the author to deliver the finished product by February, just in time for Rare Disease Day! True to the spirit of the book, she now is working on finding creative ways to translate the book into French and other languages. In case you missed it: Pre-order a book or toolkit here
“RARE IS EVERYWHERE” is a beautifully illustrated children’s book that showcases genetically rare animals such as the white tiger, brown panda, pink grasshopper, black jaguar, blue lobster, and many others. The vibrant illustrations and lyrical text highlight the splendor of each animal, encouraging children to celebrate diversity and realize that what makes us unique, makes us beautiful!
Our gratitude goes out to Originator, Author, Illustrator and Donor of this amazing project, Deborah Katz
Rare Finds YYC a grrreat affair!
An awesome gala was put on last week by our dedicated Calgary co-chairs, Cara Henry and Katrina Evanochko, who were joined by a phalanx of volunteers at the well appointed Jaguar Land Rover dealership on Glendeer Circle. Their "Jaguar Petting Zoo" was a favourite attraction (the cars, not the cats, silly!). Nearly 90 guests attended our inaugural event in Calgary, enjoying our signature culinary experience, mixologist competition and unique entertainment. Our Calgary Parent2Parent group lead, Rachel Martens, gave an inspiring speech about how her family is beating the odds on their rare disease journey and our research director made a convincing case for why microgrants are simply the awesomest use of charitable funds anywhere!
Thanks to supporter Don for his 1911 Encyclopedia Brittanica donation, a new game was invented among guests - a friendly competition to think of facts that were wrongly stated in 1911 and guess what the Encyclopedia wrote about them. Now, where will we find another set for next year? Calgary is known to be one of the most philanthropic cities in the world and we met many big hearted guests at our event. Everyone is excited about the future of this gala and already looking forward to next year!
New Discovery Provides Hope for 20% of Our Community
Novel discoveries funded by the Rare Disease Foundation and recently published in the journal Nucleic Acids Research appear poised to lead to potential new therapies to treat patients across a broad array of genetic diseases.
There are over 7,000 rare genetic diseases that affect about one in twelve people or over 500 million globally. For about 20% of these people, the gene defect arises from a specific type of abnormality known as nonsense mutation; so as opposed to tackling the daunting task of developing unique therapies for each individual disease, a new therapeutic approach targeted at this mutation (and therefore multiple genetic disorders) is being developed by Dr. Michel Roberge, a Professor of Biochemistry and Molecular Biology in the University of British Columbia’s Faculty of Medicine in partnership with The Centre for Drug Research and Development (CDRD), Canada’s national drug development and commercialization centre.
Starting with a microgrant from the Rare Disease Foundation, Dr. Roberge set out to find new therapeutic solutions that are much safer for patients. His team, alongside that of CDRD, screened more than 200,000 chemical-compounds and discovered a number of novel molecules that when combined with lower, less toxic doses of aminoglycosidesenhance suppression of the premature stop signals. Subsequent modification of these compounds by CDRD’s medicinal chemistry group resulted in novel molecules that open up the possibility of treating patients across a broader spectrum of genetic diseases caused by nonsense mutations. The Rare Disease Foundation is proud to have been Dr. Roberge's first funding partner for this potentially ground-breaking research. Read more in the rotating news announcements below.
13th Annual WORLD Symposium takes place February 13-17, 2017 in San Diego
Each year, WORLDSymposium hosts a scientific meeting presenting the latest information from basicscience, translational research, and clinical trials for lysosomal diseases.This symposium is designed to help researchers and clinicians to better manageand understand diagnostic options for patients with lysosomal diseases,identify areas requiring additional basic and clinical research, public policyand regulatory attention, and identify the latest findings in the naturalhistory of lysosomal…