As we approach Colorado Gives Day, we want to share Sophie's story and raise awareness for MCTO and the importance of rare disease research! Support our cause through Colorado Gives Foundation: https://lnkd.in/gytPyA4x #ColoradoGivesDay #BestDaytoGive #MakeGoodHappen
Sophie's Neighborhood
非盈利组织
Boulder，Colorado 103 位关注者
Moving Mountains for MCTO - Fighting for Rare Disease
关于我们
Sophie’s Neighborhood is a nonprofit 501(c)(3) organization founded in response to 5-year-old Sophie Rosenberg’s diagnosis of an ultra-rare, genetic disorder: Multicentric Carpotarsal Osteolysis (MCTO). Sophie is from Boulder, Colorado. Daughter of local restaurant owners, Hosea and Lauren Rosenberg of Blackbelly & Santo, she is one of ~50 people worldwide identified with MCTO, a rare, progressively crippling genetic bone and kidney disease. MCTO is linked to a mutation in the MafB gene. Over time this mutation is causing her joint bones to disappear and develop abnormally and ultimately threatens end stage kidney failure. There is currently no treatment or cure to stop the disorder from its path of destruction. Sophie’s Neighborhood was formed to change that RAPIDLY. Guided by an expert team of scientific advisors, the organization is urgently working to understand exactly how a single, heterozygous MafB mutation causes MCTO. All MCTO mutations reported are within a short amino acid domain that controls MafB concentration within cells. Sophie’s Neighborhood is working directly with scientists at academic institutions and biotech companies around the world that specialize in the various disciplines related MCTO pathology. The research we fund spans understanding the biology of bone building cells in MCTO, as well as the cells involved in bone resorption: blood cells, hematopoietic stem cells, and kidney cells. Further progress can be attributed to the groundbreaking scientific partnerships with companies in cell engineering, transcriptomics, and proteomics. Studies are underway to uncover viable therapeutics through drug repurposing, as well as novel modalities for the purposes of halting MCTO in its patients. We are here to Move Mountains for MCTO, and we will not stop fighting for patients with this rare disease.
- 网站
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https://www.sophiesneighborhood.org/
Sophie's Neighborhood的外部链接
- 所属行业
- 非盈利组织
- 规模
- 2-10 人
- 总部
- Boulder，Colorado
- 类型
- 非营利机构
- 创立
- 2020
地点
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主要
获取路线
US，Colorado，Boulder
动态
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?? Less than 2 weeks until race day, and less than $1,000 to raise to meet our goal. If you haven't already, check out our latest fundraising campaign: All proceeds will benefit Sophie through #RareDiseaseResearch. #SophiesNeighborhood #MCTO #Fundraiser #Community
Moving Mountains for MCTO
flipcause.com
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"The rare pediatric disease priority review voucher program is a policy we know works. It has helped bring numerous #RareDisease treatments into existence." Congress MUST reauthorize this program, two rare parents say in STAT: https://bit.ly/45pL4Sg
Curing rare childhood diseases will falter unless Congress steps up
https://www.statnews.com
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Support Will Michael as he dedicates his participation in the Leadville Silver Rush 50 mile run to Sophie. You can use the QR code below to donate or just simply leave a comment to wish him luck! $1 per 1 mile - help us reach our goal of raising $5,000 for MCTO research! #SophiesNeighborhood #UltraMarathon #RareDiseaseResearch #MovingMountainsForMCTO #50for50
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?? Shout Out to Our Amazing Volunteers! ?? This past Monday, on Memorial Day, several amazing individuals volunteered their holiday with us at the BOLDERBoulder 10K. We are endlessly thankful for the support of our ever-growing Neighborhood! Visit https://lnkd.in/gf6XbcSY to learn how you can show your support for Sophie's Neighborhood and #RareDiseaseResearch! #ThankYou #Volunteers #CommunitySupport #BolderBoulder #SophiesNeighborhood #MCTO
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??♂??? Be a BOLDERBoulder 10K Hero - Volunteer with us!????♀? Registration instructions here: https://lnkd.in/gf6XbcSY Whether you are planning to run, or not, join Sophie's Neighborhood in taking part of one of the world's most popular 10K races! In return, our nonprofit will receive a generous donation to continue on our mission in addressing #MCTO! ?? Date: Memorial Day, Monday May 27, 2024 ?? Time: 12:30-4:30pm?(post-race - you can run the race and still lend a hand!) ?? Location: Folsom Field, 2400 Colorado Ave Boulder, CO #BOLDERBoulder #Volunteer #BoulderCommunity #SophiesNeighborhood
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Thank you Boulder County, and special shoutout to Megan “Meggs” Valliere, MPPA, for helping us light up the city of Boulder in recognition of Rare Disease Day. We are grateful for our "neighborhood" and the support we have received throughout this journey. National Organization for Rare Disorders #RareDiseaseDay2024 #LightUpForRare #SophiesNeighborhood
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SomaLogic has played a key role in our #RareDiseaseResearch journey. Through analysis of MCTO patient SomaScan data, we were able to discover the overabundance of MAFB, a key biomarker in MCTO that we are now therapeutically targeting. We are thankful for our partnership with SomaLogic and the power of #proteomics!
Today we honor #RareDiseaseDay and especially 6-year-old Sophie, a special friend of SomaLogic. We’re honored that our SomaScan? Assay has been used to discover valuable insights into the rare disease she lives with – Multicentric Carpotarsal Osteolysis (MCTO).?? ? Show your support with these unique RARE bracelets now on sale through February 29 as part of a collaboration with Sophie’s Neighborhood and @threads-worldwide: https://lnkd.in/gQQMYUCD?? ? Are you researching rare diseases? Here’s how to uncover clues to disease progression and assess therapy effectiveness with the SomaScan Assay: https://lnkd.in/gjqfcjFS?? ? #biomarkers #proteomics?
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Countdown alert! Just 10 days left until Rare Disease Day! ?? Let's come together to raise awareness and support for those living with rare conditions. Got something special planned? Don't forget to submit your events! Illuminate the world in solidarity with #LightUpForRare ??, advocate for better resources and understanding, and share our stories to inspire change. Together, we're stronger! ?? . . #RareDiseaseDay #Awareness #LightUpForRare #ShareYourColours
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Happy #RareDiseaseAwareness Month! We have partnered with our friends at Threads Worldwide to design a custom bracelet combining the colors of a zebra - which is the official symbol of rare disease - with one of the official colors of the global rare disease day organization, also Sophie's favorite: Pink! Funds raised through bracelet sales will allow Sophie's Neighborhood to continue supporting important rare disease research efforts around the world. Support here: https://lnkd.in/gQQMYUCD
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