7:55 am Chairperson’s Opening Remarks
Exploring New Advances in Emerging Technologies to Understand What’s on the Horizon for Rare CNS & Neurodevelopmental Disorders
8:00 am Transforming Therapeutic Development for Neurodevelopmental Disorders with Transfer RNA RNA
Synopsis
- tRNA as a novel therapeutic modality for disease modification
- Advantages of tRNA therapeutics relative to other RNA and gene therapy and editing approaches
- Precision medicine and enabling the translational success of tRNA therapies
8:30 am Targeted Gene Regulation in the CNS Using Engineered Zinc Finger Protein Transcription Factors
Synopsis
- Engineering potent and specific zinc finger transcription factors (ZF-TFs) to regulate expression of target genes
- Characterizing and developing these AAV-ZF-TFs for therapeutic application in neurological disorders
9:00 am Approaching Antisense Oligonucleotides for Increasing Endogenous Gene Expression in Dravet Syndrome
Synopsis
- Exploring endogenous gene upregulation and the role of regulatory RNA
- Illuminating what the future could hold for this therapeutic target
9:30 am Speed Networking & Morning Break
Understanding Key Challenges in Translational Biology
10:30 am Organoids as a Pre-Clinical Research Model in Rare CNS and Neurodevelopmental Disorders
Synopsis
Virtual Presentation
- Exploring efforts to use human brain organoids as in vitro system to study rare CNS neurodevelopmental conditions
- Applications on gene therapy
- Organoids as a potential drug screening application
11:00 am Panel Discussion – Benchmarking Pre-Clinical Research Methods to Inform Translation in the Clinic: iPSC Cells, Organoids & Animal Models
Synopsis
- Exploring the value and caveats of different pre-clincal research models available
- The future of pre-clinical development, patient derived iPSCs and beyond
11:45 am Microtubule Proteins as a Translational Biomarker of Disease Progression in CDKL5 Deficiency Disorder (CDD)
Synopsis
- Central and plasma microtubule proteins are altered in Cdkl5-mice compared to WT mice
- The observed alterations are indicative of decreased microtubule dynamics and dysfunctional neuronal plasticity
- Plasma microtubule proteins are altered in CDD patients compared to neurotypical controls
12:15 pm Lunch Break & Networking
The Power of Patient Advocacy: Engaging Patient Groups to Maximise Patient Access
1:15 pm Outlining the Role of Community Collaboration to Urgently Drive Treatments for Rare CNS & Neurodevelopmental Diseases
Synopsis
- Working with extreme urgency to leave no patient behind
- Exploring lessons learned in patient groups – industry relationships from previous clinical trials
- Paving the future landscape for industry and patient group collaboration
1:45 pm Panel Discussion – How to Establish Healthy & Productive Relationships Between Industry & Patient
Synopsis
- Hear industry, foundation and patient advocacy perspectives on best practice industry in collaboration
- Exploring recommendations to foster greater cooperation in drug development
2:30 pm Individualized Treatments for Rare CNS & Neurodevelopmental Disorders
Synopsis
- Exploring how a non-profit organization is changing the treatment landscape for nano-rare patients, one patient at a time
- Leveraging a powerful therapeutic platform
- Industrializing a non-profit approach to provide hope and potentially help patients today
3:00 pm Afternoon Break & Networking
3:30 pm The Parents’ Journey Through Drug Development: How parents and patients take the lead; An Angelman Story
Synopsis
- Exploring how parents have taken a huge lead in advancing therapies for their children
- Hear examples from Angelman Syndrome clinical research about how parents can take the lead in drug development
Exploring The Current Regulatory Landscape in Drug Development for Rare Disease
4:00 pm Translating Tools Across Disease Areas to Bridge the Regulatory Research Landscape
Synopsis
Virtual Presentation
- Exploring regulatory frameworks in rare neurological disorders
- Applying FDA approved frameworks in rare CNS and neurodevelopmental disorders
4:30 pm Approaching Regulatory Frameworks for Clinical Outcome Measures & Biomarkers
Synopsis
- Efforts to pre-competitively advance regulatory science for trials in patients with Angelman Syndrome
- Understanding context of endpoint use across the development landscape
- Advancing as a broader research community