Rare Disease Research, LLC

MCT8 deficiency, also called Allan-Herndon-Dudley syndrome (AHDS), is a serious genetic disorder that affects brain and muscle development. It happens because of a change in the SLC16A2 gene, which causes problems with a protein called MCT8. This protein is responsible for transporting thyroid hormone, which is important for brain and body function. When MCT8 doesn’t work properly, the brain and muscles don’t develop as they should, leading to severe movement difficulties and intellectual disability. Exciting news!? Rare Disease Research (RDR) is launching a new clinical trial for MCT8 deficiency called MCT8/ReTRIACT. This trial aims to explore potential treatments that could improve the lives of individuals affected by this condition.? To learn more about the trial and how to get involved, click the link or contact the RDR team today! https://lnkd.in/eAYtnxRv

Honoring Trailblazers in Gene Therapy. This Women’s History Month, Rare Disease Research, LLC and Gooseberry Research are celebrating the incredible women making history in the world of gene therapy. We also want to take a moment to recognize the groundbreaking contributions of Jennifer Doudna, a biochemist and geneticist who developed CRISPR-Cas9 gene editing technology, and Katalin Karikó, a biochemist whose pioneering work with mRNA technology has been instrumental in the development of COVID-19 vaccines. Here’s to the women breaking barriers, leading the way, and inspiring us all! ?? #WomensHistoryMonth #WomenInScience #RareDiseaseResearch #GooseberryResearch #Innovation #Trailblazers

Our team Edward C. Smith, MD, Anthony Giordano, MD, Renata Shih, MD & Alpa Khushalani just returned from the MDA 2025 Conference feeling inspired and energized. The event was filled with groundbreaking research, innovative ideas, and thought-provoking insights from industry leaders, clinicians, advocacy organizations. and families. Our booth attracted many like-minded professionals exchanging ideas and exploring collaborations that could accelerate research while incorporating the needs of the patient community.?A huge thank you to the organizers, speakers, and everyone who made this event a success. #MDA2025 #NeuromuscularResearch #PatientsFirst

We are excited to share that Rare Disease Research, LLC will be attending the SCRS IncluDE Site Solutions Summit? on April 7-8, 2025, in Atlanta, Georgia! This summit brings together clinical research leaders to foster collaboration and develop impactful solutions to ensure inclusive access to clinical trials. At RDR, we are committed to transforming the clinical research landscape by partnering with innovators to drive progress. The summit provides a unique opportunity to engage in interactive learning and open discussions focused on equitable trial access, partnerships, operations, and patient care. We look forward to connecting with industry peers, explore\ing collaborative opportunities, and advancing our shared mission to create meaningful change in clinical research. Be sure to stop by our exhibit booth #4! Let’s Partner for Progress and work together to shape the future of clinical research! #RareDiseaseResearch #SCRS2025 #ClinicalTrials #InnovativeSolutions #HealthcareInnovation #RDRLLC

?????? Celebrating Certified Nurses Day! At Rare Disease Research LLC, we’re lucky to work alongside some of the best Nurse Practitioners in the field — Emily Murray, Kallie Platt, and Meg Hudspeth! Their dedication to patient care and clinical research helps push forward new treatments for rare diseases every day. On Certified Nurses Day, we want to recognize their hard work, expertise, and compassion. The rare disease community is stronger because of healthcare professionals like them! Join us in celebrating Meg, Kallie, and Emily— drop a ?? in the comments to show your appreciation! #CertifiedNursesDay #ThankYouNurses #RareDiseaseResearch #NursePractitioners #ClinicalResearch #HealthcareHeroes

Welcome to the team, Austin Holland!

We’re honored to welcome Austin Holland as our new Clinical Site Manager at Rare Disease Research, LLC! With a strong background in clinical operations and leadership — most recently as a Senior Operations Manager — Austin brings the expertise and strategic mindset to drive our research initiatives forward. A Campbell University graduate and a dedicated runner, he embodies the perseverance and dedication that fuel our research. Welcome to the team, Austin! #WelcomeToTheTeam #ClinicalResearch #RareDiseaseResearch

Looking forward to an interactive Day 2 at the MDA conference! Gooseberry Research and Rare Disease Research, LLC are proud to sponsor the MDA Clinical & Scientific Conference (March 16-19, 2025) in Dallas, TX! Join us on March 18th from 7-8 a.m. CT at the Catalyst Pharmaceuticals Industry Forum, where Principal Investigator Edward Smith will be presenting. Looking forward to connecting and sharing our latest work in rare disease research as part of this exciting event! #MDAconference #RareDiseaseResearch #ClinicalTrials #Dallas2025

Connecting with industry leaders at MDA Conference to advance rare disease research. Join us at Booth # 525 to learn about our site network and innovative home health solutions. Welcome reception tonight at 6:00 PM EST. Let's discuss how we can collaborate. #RareDiseaseResearch #ClinicalTrials #GooseberryResearch #RDR #WelcomeReception #MDA

On Celebrate Scientists Day, we honor the brilliant minds whose discoveries drive progress in rare disease research. ???? At Gooseberry Research and Rare Disease Research, LLC our principal investigators express their deepest gratitude to the scientists whose groundbreaking work in gene therapy and rare diseases makes clinical trials possible. Their unwavering dedication to discovery is laying the foundation for life-changing treatments, and we are proud to support bringing their innovations to patients. In light of the recent federal cuts impacting scientific research, we stand in solidarity with all researchers, institutions, and communities working to ensure that progress continues. These challenges only strengthen our commitment to advancing science and improving the lives of those affected by rare diseases. The meticulous work of scientists worldwide is shaping a future filled with hope and breakthroughs. Join us in thanking them! Drop a ???? or ?? to show your support and stand with us in advocating for science.