In this issue: SDS-POPS 2024 covers a wide range of topics, including SDS patient voice, stories, film, and advocacy; and SDS research and collaborations for therapies R&D and cures for Shwachman-Diamond Syndrome.
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!
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SDS POPS 2024 covered a wide range to topics, from SDS patient stories, to the cosmos of research, to high impact research collaborations with the SDS Alliance
Here is a Quick recap
The meeting focused on Shwachman-Diamond Syndrome (SDS), covering patient stories, research developments, and advocacy efforts. Discussions included the importance of genetic testing, clinical trials, and drug development for SDS, as well as the challenges faced by patients and their families. The meeting also highlighted ongoing projects and collaborations aimed at improving understanding, diagnosis, and treatment of SDS, including a film project, patient surveys, and efforts to create mouse models for research.
We invite the community to help accelerate research by considering:
participating in the SDS Patient LENS study. Indicate interest in the event feedback survey.
filling out the event feedback survey to help improve future events (and potentially receive a signed copy of Dr. Feigenbaum's book, Chasing My Cure)
joining the SDS-GPS program to contribute patient-reported data.
participating in the "Million Steps Closer to Cure SDS" fundraiser starting October 25th.
participating in the Global SDS Awareness Day and Action Week campaign from November 1-7
FREE genetic testing for Shwachman-Diamond Syndrome. Visit our resource page or reach out to our team at genetics@sdsalliance.org for more resources and information.
Rare Genomes Project if they have no or inconclusive results.
informing their healthcare providers about the new ICD-10 code for SDS (D61.02)
sharing their genetic test results through the SDS GPS program for potential submission to ClinVar.
We shared updates on many topics, including
SDS Alliance's continued work with Jackson Labs on developing viable humanized mouse models for SDS research.
Dr. Dan Bauer's work towards therapeutic gene editing for SDS
SDS Alliance to launch quality of life surveys as part of the SDS GPS program
Our new qualitative research project: SDS Patient LENS study
clinical trial opportunities, such as the X4 Pharma trial for chronic neutropenias
Summary
A thread throughout the meeting was our recent publication framing Shwachman-diamond Syndrome as Model Rare Disease
Session I: SDS Patient Voice and Stories
Dr. Eszter Hars, President and CEO of the Shwachman-Diamond Syndrome Alliance, led a session focused on patient voice and the importance of patient stories in understanding each other and driving research and therapy development.
Joyce, a 16-year-old rare disease advocate, shared her personal journey with the syndrome, emphasizing the importance of advocacy and the need for governmental policy change.
A new film project, aiming to shed light on the realities of living with SDS and to influence regulators and drug developers, was also discussed.
Two families, Erica and Cassie Thompson, and Amanda Jacobs, shared their experiences with SDS, highlighting the challenges of late diagnosis and the importance of genetic testing. The conversation ended with a discussion about the potential impact of the film project on the medical community and the SDS community.
The need for various types of research needed to develop treatments for diseases were also discussed, including clinical trials, drug repurposing efforts, therapeutic gene editing, and qualitative research.
Session II. The Cosmos of Research
Julianne Mills (Worldwide Clinical Trials) explained the process of clinical trials, including the different phases, patient screening, and the role of regulatory agencies across countries. The presentation focused on the process of clinical trials, the importance of consent from patients and their legal representatives, and the goal of drug repurposing to save time and money while maintaining patient safety.
Dr. Eszter Hars highlighted ClinicalTrials.gov as a resource for finding relevant clinical trials for Shwachman-Diamond Syndrome and associated symptoms.
Drug Repurposing and AI. Dr. Feigenbaum shared his personal story of battling Castleman's disease and his subsequent discovery of an MTOR inhibitor that has kept his disease in remission for over 10 years. He co-founded EveryCure, a company aiming to unlock the full potential of FDA-approved drugs to treat various diseases and patients. He discussed the development of next-generation artificial intelligence technologies that have enabled the scaling of drug and disease analysis.
Dr. Bauer, a principal investigator and staff physician at Dana-Farber and Boston Children's Cancer and Blood Disorder Center, discussed his work on gene therapy for Schwachman-Diamond Syndrome and the potential of genome editing technologies, specifically focusing on the use of engineered CRISPR systems.
Dr. Vanessa Merker, a qualitative research expert, discussed the importance of qualitative research in understanding human experiences and behaviors, particularly in complex or new subjects. She emphasized the role of the FDA's Patient Focused Drug Development program in learning from this approach.
Understanding Cancer and Rare Diseases through Natural History Studies. Dr. Sharon Savage from the Clinical Genetics branch at the National Cancer Institute discussed the importance of understanding the causes of cancer, particularly in the context of rare diseases. She explained the concept of a natural history study and its application to rare cancer-prone disorders. She also discussed the inherited bone marrow failure syndrome study, which aims to understand the spectrum of complications associated with these syndromes. She highlighted the history and evolution of understanding Dyskeratosis Congenita, a genetic disorder, and the importance of long-term follow-up studies in understanding the risks of cancer in patients with TBDS.
Session III: SDS Alliance Collaborations for Impact
Shwachman-Diamond Syndrome Developments and Research. Eszter discussed recent developments related to Shwachman-Diamond Syndrome (SDS), including a new collaboration with a tech company, the implementation of an ICD-10 code for SDS in the US, and efforts for newborn screening programs. Representatives from the Broad Institute presented on the Rare Genomes Project for genetic testing and the Genetic Prevalence Study to estimate SDS prevalence. The SDS Alliance team introduced the SDS Patient Lens Study to understand patient experiences and the SDS GPS Program (Global Patient Survey and Collaboration Program) for data collection. She also mentioned the Genome Connect patient registry, the SDS GPS program results, and upcoming events like SDS Action Week and a video on sibling research.
Dr. Eszter Hars discussed the challenges in developing a humanized mouse model for SDS, a genetic disorder, and the ongoing strategies to overcome these challenges. She also provided a refresher on molecular biology, focusing on DNA, RNA, and the process of splicing.
Dr. Steve Murray discussed the Jackson Laboratory's efforts to engineer a mouse model for Shwachman-Diamond syndrome (SDS) that accurately reflects the disease's key features. He highlighted the lab's expertise in creating sophisticated mouse models and their capabilities for systematic phenotypic characterization. He provided an update on the ongoing work and future plans.
Dr. Eszter Hars introduced a second mouse model collaboration with a new technology based on iPSCs.
Next, she focused on the SDS Alliance's strategy to contribute towards data and data infrastructure, and the importance of identifying and diagnosing patients accurately, particularly in the context of newborn screening. She also highlighted the organization's efforts to make genetic testing more accessible for patients and introduced the topic of variants of unknown significance (VUS) in genetic testing.
Melanie O'Leary, a principal clinical genomics specialist at the Broad Institute at MIT and Harvard, then explained the Rare Genomes Project, a free and remote research-based program that performs whole genome sequencing to identify the genetic cause of rare diseases, including SDS.
Genetic Prevalence of EFL1. Katie Russell of the Broad Institute of MIT and Harvard discussed a genetic prevalence study on the EFL1 gene related to SDS, detailing the methodology and introducing a tool called Genie for estimating prevalence. She also mentioned a project identifying pathogenic variants and returning results to the SDS Alliance.
Ashley Thompson (Genetics Project Manager, SDS Alliance) and Grace Lynch (genetic counseling student at MGH) introduced the SDS Patient LENS Study, a collaboration with Harvard/MGH to explore SDS patients' experiences and needs, involving interviews with affected individuals or caregivers.
Some more details about the topics discussed:
Eszter discussed the potential of Shwachman-Diamond Syndrome (SDS) as a model rare disease for drug development and the need to de-risk drug development.
She announced plans to host an externally led patient-focused drug development meeting (EL-PFDD meeting) to help the FDA and product developers to gather patient perspectives on their condition and available therapies.
Joyce, a 16-year-old rare disease advocate, shared her personal journey with SDS and her advocacy work, emphasizing the importance of advocacy in raising awareness about the lives of rare disease patients. Joyce also discussed her efforts to create a governmental official awareness day for SDS and her work on three bills aimed at improving access to care and streamlining insurance processes.
Raising Awareness for SDS Through Film
Eszter introduced a film project aimed at raising awareness about Shwachman-Diamond Syndrome (SDS) and its impact on families. The film, directed by Levi Gershkovich, features families sharing their personal stories.
The trailer was premiered at the meeting! Followed by a discussion with two participating families.
Erica Thompson and Cassie Thompson shared their son Elijah's late SDS diagnosis, highlighting the need for earlier genetic testing.
Amanda Jacobs discussed her daughter Addison's SDS diagnosis at nine months old, her severe symptoms, and the treatment she received at Children's Hospital of Philadelphia. Amanda shared her daughter Addison's medical journey, including successful treatment for a p53 mutation through a clinical trial using the chemotherapy drug Treosulfan.
Erika, Kassi, and Amanda discussed the challenges of living with undiagnosed Shwachman-Diamond syndrome (SDS), emphasizing the need for early detection and better support. Kassi highlighted the importance of raising awareness and finding new treatments for SDS.
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