To Our Wolfram Syndrome Community:
It has certainly been a challenging year, but despite the difficulties, The Snow Foundation has continued to work tirelessly on your behalf.
Physicians and scientists from all over the world are advancing our cause, and here is a brief research update:
1. Thanks to the efforts of Dr. Timothy Barrett and his colleagues, University of Birmingham, United Kingdom, 12 pediatric patients and 1 adult patient have already been recruited for the sodium valproate trial, which hopes to slow the progression of vision loss.
2. Thanks to the efforts of Dr. Gema Esteban-Bueno and her colleagues, UGC Garrucha, Spain, a number of guidelines are being released as it relates to genetic counseling, best practices, and the psychosocial impact of Wolfram syndrome.
3. Thanks to the efforts of Dr. Benjamin Delprat and his colleagues, University of Montpellier, France, the effects of modulating the NCS1 receptor as it relates to calcium homeostasis and endoplasmic reticulum and mitochondria communication and function is being studied.
4. Thanks to the efforts of Mariana Igoillo-Esteve and her colleagues, ULB Center for Diabetes Research, Belgium, the positive effects of GLP-1 analogs on beta cells have been confirmed and work is currently underway to confirm the positive effects on neuronal cells.
5. Thanks to the efforts of Dr. Tamara Hershey and her colleagues, Washington University School of Medicine, USA, data has been published highlighting the effects of Wolfram syndrome on sleep, smell, and taste.
6. Thanks to the efforts of Dr. Allen Kaasik and his colleagues, University of Tartu, Estonia, compounds have been identified, which improve endoplasmic reticulum calcium homeostasis and neuronal cell function in cellular models.
7. Thanks to the efforts of Patrick Yu-Wai-Man and his colleagues, University of Cambridge, United Kingdom, a Wolfram syndrome model has now been created in Zebrafish, and retinal ganglion cell loss is being studied.
8. Thanks to the efforts of Mario Plaas and his colleagues, University of Tartu, Estonia, and his colleagues, 15 months of treatment with liraglutide in rats have demonstrated a delay in progression of diabetes, brainstem degeneration, and loss of vision.
9. Thanks to the efforts of Dr. Fumihiko Urano and his colleagues, Washington University School of Medicine, USA, drug development work is underway with partners in Massachusetts and Connecticut, regenerative gene therapy is being tested with two delivery mechanisms, collaborations have been formed in Massachusetts to specifically test base editing gene therapy, and a new genetics clinic has been opened at Washington University.
10. Thanks to the efforts of Dr. Catherine Verfaillie and her colleagues, Catholic University of Leuven, Belgium, a specific type of base editing gene therapy on nondividing cells has continued to advance with oligodendrocytes and retinal ganglion cells being created, an adenosine base editing tool being developed, vectors being generated, and delivery and testing currently underway.
11. Thanks to the efforts of Drs Neil White and Bess Marshall, Washington University School of Medicine, USA, patients are being recruited and screened for enrollment in a liraglutide study at Washington University.
Please visit Global Research Updates for more information on any of the above research.
Wolfram syndrome patients, while not immunosuppressed, certainly suffer from multiple comorbidities and are considered high-risk patients as it relates to the COVID pandemic; fortunately, our Wolfram Community has stayed strong and healthy, and for this, we are most grateful.
We are pleased to announce the upcoming launch of the first-ever patient owned Global Wolfram syndrome registry, a collaborative effort between The Snow Foundation and the National Organization of Rare Disorders (NORD), which will create an opportunity for everyone to contribute directly to research and therapeutic development. This is an essential and extremely powerful tool which will require the support and participation of our Wolfram syndrome community. Please sign up today at the WS Global Patient Registry.
Please also visit our newly redesigned website and the debut of the international Wolfram syndrome forum where members may communicate in a safe and secure environment: Our Forum.
The launch of the WS Global Facebook site for patients and their families is now underway. This site will be co-administered by representatives from different WS associations from around the world. It is time to join hands in this journey of ours and support one another regardless of location. Please visit the WS Global Facebook group to sign up.
I want to express my sincerest gratitude to Stephanie Gebel, the Snow Foundation founder, a wife, a mother of four children, and the biggest advocate for our Wolfram syndrome community. She has selflessly dedicated herself to our shared cause for almost a decade now. Caring for loved ones requires a great deal of personal sacrifice, and as with many things in life, it requires re-balancing. At this time, while her two youngest children are still at home, Stephanie is going to devote more time to them. I, along with another great advocate whom we owe a great deal of credit to, Pat Gibilisco, will be taking over the daily operations and helping out as best as we can until Stephanie returns.
The COVID pandemic has unfortunately resulted in the cancellation of not just one but two planned Snow Foundation fundraisers, and more than ever, we need everyone in our Wolfram Community to step up, chip in, and help out in any way they can, to the best of their ability. Please Donate Today
Thank you,
Saad Naseer, MD
Interim CEO
|
