Team Telomere

Exciting research news for the TBD community! ?? Elixirgen Therapeutics, Inc. has been granted Regenerative Medicine Advanced Therapy (RMAT) designation by the FDA for EXG-34217, a gene therapy for Telomere Biology Disorders (TBDs) with bone marrow failure. This means the therapy will get fast-tracked for development and review, bringing us one step closer to potential treatment options! EXG-34217 is currently in Phase I/II clinical trial and open for enrollment for patients 12 and older. Laboratory data on this therapy shows that it may play a role in extending telomeres of stem cells. This trial is looking to evaluate the safety and tolerability of EXG34217 in individuals with TBDs. More information about the Phase I/II clinical trial can be found under the recruiting research studies section of our website. This designation highlights the need for new therapies and shines light on the progress in TBD research being made! ?? Learn more: https://lnkd.in/et4surw2 #TelomereBiology #RareDisease #GeneTherapy #FDAApproval #TBDResearch #DyskeratosisCongenita

?? Call to Action! Please read the statement below and share with your community. You can download the 5 calls app and simplify your strategy. https://5calls.org/ It’s going to take all of our voices working together. Thank you!

During February, we celebrate Black History Month. This #BlackHistoryMonth, and every day, we honor the legacy of Black workers, laborers, and activists. Today we notably honor Ms. Henrietta Lacks, the Mother of Modern Medicine. Henrietta Lacks’ cancer cells were taken without her knowledge in 1951 and became the first immortal human cell line, HeLa, revolutionizing medical research with breakthroughs in vaccines, cancer treatments, and more. Her story, largely unknown for decades, raised major ethical questions about consent in medical research and gained recognition with The Immortal Life of Henrietta Lacks (2010). As an organization devoted to patient advocacy, we honor the achievements of Black scholars and health professionals. In addition, we strive to address health disparities in Black communities. Team Telomere is deeply committed to our mission - and know that we cannot understand the basic biology of telomeres without more diversity in research. This month reminds us of the importance of diversity, inclusion, and health equity in everything we do to support those with Telomere Biology Disorders. #BlackHistoryMonth #BlackHistory #CelebrateBlackHistory #ResearchMatters #Cancer #HeLA #Vaccines #RareDiseaseMonth #Telomeres #TeamTelomere #DEI #PatientAdvocacy

As we promised we would keep you up-to-date on policies and Executive Orders that affect the TBD community. Last Friday evening, the research field received devastating news with the National Institutes of Health’s policy guidance that all indirect costs will be capped at 15% in all grants. Read more : https://lnkd.in/efszqq2g We lead in hope and action. #Telomere #RareDisease #NIH #Grants #BetterTogether

Update to our Call to Action Yesterday, Team Telomere learned that our study section was canceled. It simply stated: Thank you for your application to the Rare Diseases Clinical Research Consortia (RDCRC) for the Rare Diseases Clinical Research Network (RDCRN) (U54 Clinical Trial Optional) funding opportunity. Unfortunately, the Peer Review meeting for the review of your application, to be held on Feb 5-7, 2025, is cancelled. Once we have more information about when this meeting will be rescheduled, we will let you know. We appreciate your understanding. In addition Team Telomere had to pause our Research Roundtables as a number of our researchers stem from the NIH and are not allowed to attend. Patients enrolled in clinical trials are receiving notifications that their teams are not able to respond to them. The broad scope of the current order and the resulting disruptions to scientific activities is concerning, as even a few weeks of delay can cascade into months of setbacks, compounding over time. How You Can Help: ? Fellow Advocacy Groups and US Citizens: ? Email the Senate Finance Committee urging them to oppose the proposed budget provision titled "Eliminate Deduction for Charitable Contributions to Health Organizations" that would eliminate the deduction for charitable contributions to health organizations. If passed, this measure would revoke tax-deductible status for donations to health organizations, including patient advocacy groups like Team Telomere. Without our 501c3 status, not only could we not issue tax receipts, but we also could not accept donations from DAFs and would lose our eligibility for most grants. This would devastate our organization.Read the proposal page 10, #4 : https://lnkd.in/ggJuA-SH ?PAGs sign on to the National Council for Nonprofits letter addressing the above to the 119th Congress. https://lnkd.in/ekmE8BRv ? Use your voice – Contact elected officials to stress the importance of NIH funding. Find your local representative tool through the Everylife Foundation: https://lnkd.in/eeAHX7DS *Dial (202) 224-3121 *Enter your zip code *Leave Voicemail *Say "My name is __________, I am a constituent of _________ in [town]. (If clinician/scientist/patient/caregiver, say) The NIH freeze harms research and patients and must be lifted immediately." BE BRIEF - Staffers tally calls. ?Track any disruptions to your research or research partners. Communicate this to our officials. ?Don’t lose hope, remember it’s a marathon not a sprint! #Telomere #RareDisease #TakeAction #Advocate #ScienceMatters

Team Telomere is so grateful to be advocacy partners with Uplifting Athletes and the Young Investigator Draft! We share Uplifting Athletes’ passion for accelerating scientific advancements for rare disease treatments and potential cures. Uplifting Athletes developed the Young Investigator Draft to support critical research while inspiring the next generation of rare disease researchers. Our pick for this year's Uplifting Athletes Young Investigator Draft is Dr. Helen Reed, Dana-Farber Cancer Institute/Boston Children’s Hospital! Dr. Reed’s project is titled “Deoxynucleoside Therapy in Telomere Biology Disorders: A Phase I Clinical Trial” and aims to explore using nucleoside therapy, which has laboratory data showing promise in supporting telomere maintenance and playing a role in telomere elongation. The project will involve a clinical trial at Boston Children’s Hospital to evaluate the safety and potential benefits of this therapy in individuals with TBDs. Dr. Reed is a dedicated clinical researcher with a strong focus on TBDs. She has experience in clinical study design and a passion for improving therapeutic options, and she will be helping lead the trial. Join us in celebrating and congratulating Dr. Reed! Stay tuned for updates from our Executive Director, Katie Barrett-Stevens, and Board Director, Kendall Davis, MPH, who are attending the Young Investigator Draft in Philadelphia today!

Join us for our first ever combined Community Chat in partnership with the The Leukemia & Lymphoma Society. The topic is on Molecular Drivers and Genetic Predisposition to Blood Cancers on Thursday, February 20th, at 6 PM ET! ?? By combining LLS’s expertise in hematologic malignancies and Team Telomere’s focus on rare disorders, this initiative fosters collaboration across patient advocacy, education, and research. Together, we aim to empower patients, caregivers, and healthcare professionals with the knowledge to improve outcomes and advocate for innovative therapies. Experts from Dana-Farber Cancer Institute , UCI Health, Salk Institute, and Team Telomere will discuss the connection between Telomere Biology Disorders (TBDs) and blood cancers like MDS and AML. This is an opportunity to learn, ask questions, and engage with experts and advocates in the field. ?? Registration is required – sign up here: https://lnkd.in/g43m7Z_k ?? Hosted by Leukemia & Lymphoma Society (LLS) in collaboration with leading research institutions. Let’s shine a light on the heightened risk of leukemia in TBD patients and work together to advance research and awareness. Don’t miss this important conversation! #BloodCancerAwareness #GeneticPredisposition #TBD #Leukemia #LLS #TeamTelomere #CancerResearch #TelomereBiologyDisorders

Team Telomere is collaborating with the Rare Genomes Project, a free and remote research program using genomic sequencing to look for the genetic cause of rare diseases. We are specifically collaborating to provide an opportunity for genetic testing for families with or suspected to have a Telomere Biology Disorder. The goals of this effort are to increase access to genetic testing for community members and to help discover new genetic changes associated with disease. Participation: Participation in the Rare Genomes Project is remote and free of cost. Eligible families will be asked to provide relevant medical information and a blood sample using a collection kit mailed directly to their home. If a result is found, the RGP study will work with your doctor to confirm the result. Eligible Participants: ??Have a suspected Telomere Biology Disorder, consisting of a telomere length (as clinically measured by flow FISH) less than or equal to the 10th percentile for one’s age ??Have a suspected genetic cause that has not been identified due to a lack of access to genetic testing or prior testing being negative or inconclusive ??Live in the United States To learn more and get started visit our website: https://lnkd.in/g2gP6sKz

??Camp Sunshine applications are now open! Camp Sunshine has been a partner of Team Telomere for 15 years and we are honored to host our Community Summit this summer on the banks of Lake Sebago, June 30-July 3, 2025. ??Where do I apply? Applications are online through Camp Sunshine. Email Karla Moore, Family Engagement Manager at [email protected] or call 207-655-3800. ???When is the due date? May 30, 2025 ??How can you prepare : Start searching for your travel options and book ASAP. For travel scholarships, Camp Sunshine will prioritize first time families and work their way down. Team Telomere is actively searching for funds to help pay for travel for attendees. Information will be released in early March. ??What to expect: This event brings together families and community members from across the globe. Kids get to be kids while the adults have access to education sessions with leading TBD researchers. We will also have community activities and more! Keep an eye out for the agenda and updates! ??How can you help? If you are interested in being on our Community Summit Planning Committee please reach out to Katie, [email protected] We hope to make this our largest gathering of the community to date! Sign up today! #TeamTelomere #TTCamp25 #Telomere #DyskeratosisCongenita #BetterTogether

"Injustice anywhere is a threat to justice everywhere" - Dr. Martin Luther King, Jr. Today in the United States we honor the legacy of Dr. Martin Luther King, Jr. who spent his life lifting the voices of those that were marginalized and who law and policy worked against. Those in the #raredisease space resonate with the deep knowledge that we spend a vast majority of our lives and the lives of our loved one’s unseen and unheard. Rare disease affects 1 in 10 Americans, meaning that injustice for 1 is injustice for all 25-30 million Americans living with a rare disease. Last month, our Executive Director, Katie Stevens, was invited to the Racial Justice Groundwater workshop hosted by the Racial Equity Institute their sister organization the Groundwater Institute and the Chan Zuckerberg Initiative. The two day convening helped to educate leaders on the collective commitment to eliminating racial disparities, it's crucial to have a shared understanding of racism as a structural arrangement of power based on race. Their race analysis helps participants: -Ground themselves in the historical and structural roots of racial inequities -Focus on systems rather than individuals -Identify and confront the narratives that perpetuate inequities -Clarify their own roles and relationships within the power structure We know that science and research has been largely based on white male cell lines, leaving a chasm in understanding of all basic science, and the #telomere space is not spared from this. We ask all of our partners in rare to consider signing up for one of these training sessions. Whether you work in policy, advocacy, or research it will help you to better understand the constraints we confine ourselves when we don’t acknowledge the system we work and build within. You can reach out to Mario Estevez if you have questions or interest: [email protected] Or sign up here : https://lnkd.in/gYvGibAW