In this issue: The SDS Alliance team is energized and ready for Global SDS Awareness Day and Action Week! A recap of the annual CZI Science in Society Meeting.
Welcome to our timely updates on all things SDS, Science, and Advocacy. We bring you a digest of recent scientific publications, conferences, and other newsworthy content - all relevant to SDS - with links to more details and learning opportunities. Are you interested in anything specific? Did we miss something? Let us know. Email genetics@SDSAlliance.org or message us on Facebook! This is all for you!
SDS Alliance is Energized by the Annual CZI Science in Society Meeting
With yesterday’s launch of Global Shwachman-Diamond Syndrome (SDS) Awareness Day and Action Week (1-7 November), our team at SDS Alliance is reflecting on our recent experience at the invitation-only Annual Science in Society (SiS) Meeting hosted by the Chan Zuckerberg Initiative (CZI) which brought together the CZI Rare As One (RAO) network, a passionate community of rare disease patients and caregivers, patient advocacy group leaders, scientists, clinicians, and policymakers, committed to advancing rare disease research and improving patient outcomes. The SDS Alliance was Awarded a transformational Chan Zuckerberg Initiative “Rare As One” Grant in 2021, as part of cycle 2.
The first full meeting day (16 October 2024) themed, “Accelerating Rare Disease Diagnosis,” was focused on shortening the diagnostic journey that many families face. Currently, it can take six years or more for patients with rare diseases to receive an accurate diagnosis. Experts and leaders from across the rare disease community challenged each other to envision cutting this time to just six weeks within the next six years. Discussions included emerging tools like artificial intelligence (AI) that could support real-time diagnostics, ways to better understand variants of uncertain significance, and policies to make diagnostic resources widely accessible. For the SDS Alliance team, attending this meeting was energizing, reaffirming the importance of equitable diagnostic access and showing promise for a future where SDS patients may face fewer hurdles on their diagnostic journeys.
The second meeting day (17 October 2024), centered on “Data Integration for Disease Characterization” and “Impact,” brought attention to the incredible potential of patient data to propel rare disease research forward. Speakers presented innovative registries and platforms for collecting data that can characterize diseases in greater detail and support the development of new treatments. A big focus was also on making data gathering accessible and patient-centered, envisioning technologies like wearables to track health in real-time. This session was particularly insightful for the SDS Alliance team in light of our recent launch of the SDS Global Patient Survey and Collaboration Program: SDS-GPS (learn more about the GPS Program and how to make your voice count here!).
Finally, leaders from patient-driven organizations shared successes and discussed novel funding models to advance research, offering a roadmap for how patient communities, like those affected by SDS, can contribute to and benefit from advancements in rare disease research and treatment development.
Not only did the CZI SiS meeting provide the opportunity for SDS Alliance team members Ashley Ferreira (pictured on the right below) and myself (Ashley Thompson, as seen on the left) to meet in person for the first time, but it also underscored that meaningful progress for advancing diagnostics and therapeutics for the SDS community is within reach, giving SDS Alliance new ideas and a renewed sense of purpose in our advocacy and research efforts.
This was the first CZI SiS meeting Ashley Ferreira had the opportunity to attend in-person. She was kind enough to write up and share her thoughts and reflections about attending this meeting and engaging with the RAO network below.
Attending the 2024 CZI SiS Meeting was an inspiring opportunity that deepened my understanding of the intersection of AI, healthcare, and research. The atmosphere was electric, filled with innovators and thought leaders passionate about harnessing technology for the benefit of our rare disease communities. There were various sessions that offered valuable insights into how AI is transforming the landscape of healthcare, from pre-clinical research to personalized patient care.
One of the highlights was the discussion on AI-driven predictive analytics in patient care. Experts shared case studies demonstrating how machine learning models can analyze vast datasets to identify at-risk patients before issues arise, ultimately leading to better health outcomes. The emphasis on collaboration between data scientists and medical professionals underscored the importance of interdisciplinary approaches in developing effective AI tools.
Panelists also engaged in meaningful dialogue about ensuring that systems are equitable and transparent, highlighting the need for diverse datasets to advance research in rare disease communities effectively. By leveraging advanced algorithms and machine learning, researchers can now analyze vast amounts of genetic, clinical, and demographic data more efficiently than ever before. This capability allows for the identification of patterns and potential biomarkers that were previously difficult to discern, accelerating the discovery of effective treatments. Additionally, AI-powered tools facilitate the management of patient registries, enabling more accurate tracking of patient outcomes and experiences. This holistic approach not only fosters collaboration among researchers but also empowers patients and advocates to contribute to the knowledge base, ultimately driving progress in understanding and treating rare diseases.
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