Global Genes

We would like you to join us in welcoming our newest Global Advocacy Alliance members! ?? CYFIP2 Network ?? The RYR-1 Foundation ?? TNPO2 Foundation ?? INSTITUTO DEAF1 ?? Apema Care ?? MVA Society ?? Réseau Camerounais de Recherche sur les Maladies Rares ?? Grace Science Foundation ?? The Malcom Orlando Ivy Foundation ?? NRXN1 Network Learn more about this global community of 750+ rare disease advocacy organizations by visiting the Global Advocacy Alliance page on our website (link in bio! ??) & see how Global Genes an help your organization create community & support networks for rare disease awareness. #CareAboutRare #RareDisease #GlobalAdvocacyAlliance #GlobalGenes #RareDiseaseAdvocacy #RareDiseaseAwareness

On the Blog Today: 5 Ways to Support Loved Ones Affected by Rare Disease During the Holidays How we feel and How you can help. this happy season also comes with some inevitable anxiety, sadness and isolation. If someone you love is the parent of a child with a rare diagnosis, or perhaps has a rare condition themselves, here are 5 things to consider they may be struggling with this holiday season, as well as 5 things you can do to to make it easier. #holidaystress #careaboutrare Link to the blog here: https://lnkd.in/dyQ6EubN

??Calling all advocates! We need your help this Giving Tuesday! ?? Will you join us in spreading hope by setting up a Facebook fundraiser or donating for 2024 Giving Tuesday? Your support of Global Genes and grassroots advocacy will have a lasting impact on the future of rare disease. Donate now at https://lnkd.in/gbeGir7 Swipe to learn how to set up your own fundraiser to support Global Genes and the rare community. #CareAboutRare #GivingTuesday

Global Genes' Director of Patient Services, Shruti Mitkus Ph.D., has contributed to the recently published N-of-1 therapies roadmap publication in Nature Reviews (with IRDiRC). An N-of-1 gene therapy is an individualized treatment developed for a particular mutation that is present in a single patient (of very few other patients). In this paper overview an overview is provided of the current advances and challenges of N-of-1 therapies as well as a development roadmap. The objective of IRDiRC's N-of-1 Task Force is to connect the different N-of-1 efforts being conducted globally and to create a roadmap towards development and implementation of these therapies. Global Genes is grateful to have provided the patient perspective on genetic diagnosis and communicating effectively with families to assess perceived benefit of such treatments. #raredisease #nof1 #careaboutrare

We have collected a number of resources to offer support and guidance for individuals with rare disease, as well as advocates, caregivers, family members, and friends. Explore our curated collection of resources in our newest blog. Linked here: https://lnkd.in/e8C5_3H4 #raredisease #rarediseaseresearch #careaboutrare

As seen at #WeekInRARE, Jeff Levenson’s film “Life Through A Lens,” tells the story of Hollywood photographer, Robert Zuckerman, whose “life through a lens” gets turned upside down after he is diagnosed with a rare, debilitating genetic disease, generally referred to by its initials, APBD. The challenges Robert has faced – continues to face each day – would have been insurmountable for most. But not Robert. ?? ?? Watch this film now! https://lnkd.in/gsYxT-Gq #CareAboutRare #RareDisease #RareDiseaseAwareness #GlobalGenes #RARElyToldStories #ShareYourStory

During our Health Equity Forum at Week in RARE 2024, Suzanne Edison led a great workshop for writing a letter to your rare disease and crafting a mask that shows the super powers you have to deal with that disease. Today, we’re sharing attendee Amber Denton’s letter to Neurodegeneration with brain iron accumulation (NBIA). Read “Dear NBIA” below! ???? https://lnkd.in/g-J8Rrxg #CareAboutRare #RareDisease #RareDiseaseAwareness #GlobalGenes #WeekinRARE #RAREHealthEquity

We love to hear about the victories of our Global Advocacy Alliance members! Today, we’re celebrating Castleman Disease Collaborative Network’s successful summit that took place this past July. Read about their efforts at the link below! ?? https://lnkd.in/gYmrA3v2 #CareAboutRare #RareDisease #RareDiseaseAwareness #GlobalGenes #GlobalAdvocacyAlliance #GAASuccessStories

The latest IRDiRC publication, "Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases'" is now live on Orphanet Journal of Rare Diseases with open access! This paper offers key insights and expert guidance on how cutting-edge technologies can revolutionize rare disease diagnostics. A valuable resource for anyone invested in advancing rare disease diagnosis and care. Read more here ??: https://lnkd.in/eMWbjtHC #RareDiseases #InnovativeDiagnosis #TechForGood #OpenAccess #IRDiRC

This year, Global Genes partnered with Brad Thompson, M.A., NCC, LPC-S to host a caregivers support program aimed at helping caregivers develop practical, easily accessible tools and resources to take care of themselves and their mental health. The program ran from April to September. As a follow-up, we’ve asked participants to share their experiences before and after participating in the program. Today, we’re highlighting RARE mom and caregiver, Ana Contreras, as she describes how coping with her child’s diagnosis changed how she viewed motherhood and the fear of the unknown. Read her thoughts below: ???? https://lnkd.in/esdw-znG #CareAboutRare #RareDisease #RareDiseaseAwareness #GlobalGenes