Day One


Wednesday, June 22, 2022 | 8.30 AM - 3.00 PM (EST)

8:30 am Online Registration

8:50 am Chair’s Opening Remarks

Highlighting Commonalities Between Rare & Genetic Neurodegenerative for a Holistic Overview of Disease

9:00 am People-Centered Patient Assistance Programs: Developing Frameworks & Solutions that Deliver on Sustainable Needs for the Long Haul


  • Exploring strategies from a birds-eye view—what communities share in common to supplement existing approaches that focus on specific populations with specific therapeutic options
  • Designing of common services built from a birds-eye view to help bundles of populations—may help give perspective, convey the landscape, and insert some objectivity and encourage trust and exploration
  • Adira Foundation funds common goods and services for multiple neurodegenerative populations to help supplement the good programs that exist for each specific population

9:30 am In-Vivo Phenotypic Screens Identify Therapeutic Targets for Common Pathological Problems in Neurological Disorders

  • Shane Hegarty Chief Scientific Officer & Co-Founder, AXONIS Therapeutics


  • In vivo phenotypic screens identify therapeutic targets underlying common
    pathological problems in neurodegenerative and neurological disorders
  • Neurotrauma-related degeneration causes excitation/inhibition imbalance in spared
    nervous system tissue, but KCC2-enhancing therapies can restore lost functions
  • KCC2-enhancing treatments are promising therapies for rare and genetic disorders
    involving excitation/inhibition imbalance and neuronal circuit disinhibition in the CNS

10:00 am Precompetitive Partnership to Advance Drug Development – Thoughts on Academic, Biotech, & Pharma Partnerships to Advance Rare Disease Drug Development

10:30 am Morning Break & Speed Networking


Grab a quick cup of tea or coffee from the comfort of your own home office and jump straight into the speed networking session. This is your opportunity to connect with new contacts from active companies in the field and exchange digital business cards. Network and form lasting connections through this exclusive virtual speed networking!

Focusing on the Rare Sub-Groups in Clinical Trials to Inform Trial Design & Enhance Success

11:00 am Characterizing Rare Disease Biology in Clinical Studies to Observe Drug Effects in Patient Sub-Populations


  • Understanding the relevance of Whole Exome Sequencing (WES) and mRNA-seq analyses
  • Using unsupervised computerized AI analysis to assess large data
  • Correlating genomic analysis with extensive clinical data outcomes and endpoint scales

11:30 am Therapeutic Discovery Platform for Oligonucleotides Targeting Neurodegeneration & other CNS Disorders

  • Owen McManus Chief Technology Officer, Q-State Biosciences


  • Building a high throughput platform for functional characterization of neuronal activity in the context of genetically defined CNS diseases
  • Q-State uses this platform to inform design and development of antisense oligonucleotides targeting underlying disease mechanisms
  • Presenting examples from projects targeting Spinocerebellar Ataxia 13, Spastic Paraplegia Type 49 and KCNT1-related Developmental and Epileptic Encephalopathy

12:00 pm Mastermind Round Table Discussions – A session dedicated to crowd-sourcing and trouble-shooting challenges faced by the rare and genetic neurodegenerative field leaders to understand how peers are deciding clinical direction for their pipeline


 Panel Discussion: Re-gathering, Re-Collecting & Re-Evaluating

  • Uniting ideas, challenges and solutions discussed during the roundtables
  • Identifying key takeaways from the discussions and next steps moving forward for the field
  • Utilizing knowledge already uncovered, currently being obtained and yet to shape

12:30 pm Lunch Break

Leveraging Biomarkers to Understand Neurodegenerative Diseases

1:30 pm Pre-competitive Approach to Furthering Validation of Biomarkers and Clinical Outcome Assessments of Rare Diseases

  • Eline Appelmans Director - Neuroscience Research Partnerships, Foundation for the National Institutes of Health


  • Identifying potential biomarkers for rare diseases
  • Finding the right Context of Use to advance your rare disease area
  • Implementing a pre-competitive multi-stakeholder consortia-based approach to biomarker qualification

2:00 pm Current State of Wet Biomarker Discovery in Huntington’s Disease

  • Anka G. Ehrhardt Director, Cell-Based Assays / Analytical Research & Development, Merck


  • Discussing strategies used to uncover wet biomarkers in Huntington’s disease
  • Uncovering the matrices of interest which are representative of disease processes in the brain
  • Current biomarker candidates

2:30 pm Regulatory Engagement in a Pre-competitive Partnership to Advance Drug Development Tools for Familial Frontotemporal Degeneration (f-FTD)

  • Erin Rosenbaugh FNIH Project Lead, Neuroscience Research Partnerships Project Lead


  • Developing a Context of Use and laying out the evidentiary criteria to support  final tool utility
  • Framing the Letter of Intent (LOI) and expectations along with the Biomarker Qualification Process
  • Case study of Neurofilament of Neurodegeneration in Familial Frontotemporal Degeneration (f-FTD) Informing Amyotrophic Lateral Sclerosis

3:00 pm Chair’s Closing Remarks & End of Conference Day One