SDS POPS
Global Patient Advocacy and Partnering Summit

6:07 Session I: Patient Stories

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6:35 Eszter Hars (SDS Alliance): Introduction of our latest paper as a guide through today's meeting: From Challenge to Opportunity: How Shwachman–Diamond Syndrome Became a Promising Target for Therapy Development. 
 

9:18 Eszter Hars (SDS Alliance): EL-PFDD Externally Led Patient-Focused Drug Development Meeting in planning!
 

11:36 Joyce Fitz (Patient Advocate and SDS Alliance Youth Ambassador): My Story
 

23:20 SDS Film Project Introduction and the Premier of its Trailer!
 

27:24 Levi Gershkowitz ( Filmmaker, Living in the Light): About the making of the film
 

35:30 Meet the families from the film: A discussion with Kassi and Erika Thompson (sharing Elijah's story); and Amanda Jacobs (on behalf of Melvin and Addie), moderated by Ashley Ferreira (Community Engagement, SDS Alliance).

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1:07:00 Session II: The COSMOS of Research

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1:08:45 Juliane Mills (Worldwide Clinical Trials): An Introduction to the Clinical Trials
 

1:25:04 Eszter Hars (SDS Alliance): Where to find clinical trials, and what is Clinicaltrials.gov?
 

1:26:38 An example of drug repurposing and clinical trials: Mavorixafor by X4 Pharma
 

1:29:05 Dr. David Fajgenbaum (EveryCure): An AI-based systematic approach to finding drug repurposing candidates
 

1:36:56 Dr. Daniel Bauer (Boston Children's Hospital): An update and vision for Gene Therapy for Shwachman-Diamond Syndrome
 

1:51:41 Dr. Vanessa Merker (Harvard Medical School and Mass General Hospital): Qualitative Research and its Impact on Health Outcomes (and Drug Development)
 

2:08:24 Dr. Sharon Savage (NIH, NCI): What are Natural History Studies? Insights from Telomere Biology Disorders

2:26:43 Session III: SDS Alliance Collaborations for Impact

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2:28:16 Dr. Eszter Hars (SDS Alliance) & Dr. Steve Murray (Jackson Laboratory): Humanized Mouse Model for Shwachman-Diamond Syndrome (AKA Mouse Project I): An Overview of the Rationale and Splicing; and an Update on the Progress to Date.
 

2:57:11 Dr. Eszter Hars (SDS Alliance): Brief Introduction to a new project to Develop an iPSC-based Chimeric Mouse Model for Shwachman-Diamond Syndrome (AKA Mouse Project II)
 

2:58:50 Dr. Eszter Hars (SDS Alliance): US ICD-10 code D61.02 for Shwachman-Diamond Syndrome and its Success within just 12 Months
 

3:03:30 Dr. Eszter Hars (SDS Alliance): Progress in Diagnostic Rate and Speed. Increased Access through Newborn Screening (Genomics England; GUARDIAN study) and free genetic testing resources (Visit https://www.sdsalliance.org/sds-testing)
 

3:09:57 Melanie O'Leary (Rare Genomes Project, Broad Institute of MIT and Harvard): A collaboration with Shwachman-Diamond Syndrome to Support Diagnosis through Whole Genome Sequencing. More at https://www.sdsalliance.org/rare-genomes
 

3:19:35 Katie Russell (Broad Institute of MIT and Harvard): Estimating Genetic Prevalence using Large Datasets on Variants; EFL1 Genetic Prevalence Study
 

3:29:40 Ashley Thompson (SDS Alliance) and Grace Lynch (MGH, Genetic Counseling Program): SDS LENS Study (Exploring the Lived Experiences, Needs, and Stories of SDS Patients and Caregivers)

3:39:10 Eszter Hars (SDS Alliance): Summary of opportunities to get involved!

Bonus: SDS-GPS

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3:44:14 Eszter hars (SDS Alliance): SDS-GPS (Global Patient Survey and Collaboration Platform): Background, Overview, and Results! NOW OPEN FOR ENROLLMENT! Visit www.sdsalliance.org/sds-gps
 

3:55:48 Alexis Morgan (Geisinger): An Introduction to ClinGen, ClinVar, and Genome Connect, and our collaboration with Shwachman-Diamond Syndrome Alliance
 

4:09:30 Eszter Hars (SDS Alliance): What have we learned through SDS-GPS so far? A few highlights.