9:20 am Chair’s Opening Remarks

  • Katherine Call Former Senior Director, Head of Proteogenomics, Sanofi Genzyme

Characterizing Heterogenous Conditions & Identifying Disease-Driving Biomarkers

9:30 am Clinically Meaningful & Feasibility of Some Selected Biomarkers in ANCA-Associated Vasculitis (MPA and GPA) for Clinical Development of Future Therapies

  • Domenico Merante Global Clinical Development TA Lead Nephrology & Orphan Disease Area, Vifor Pharma


• Patient identification strategies to identify patient clusters
• How can data be used retrospectively to better define disease?
• What is the value of literature research in ANCA-Associated Vasculitis (MPA and GPA) clinical development?

10:00 am Cohort Confounders: Inaccuracies in Genetic Tests & What to Do About It

  • Julie Eggington Co-Founder & Chief Executive Officer, Center for Genomic Interpretation


• Biomarker discovery – Finding the needle in the haystack through ACCURATE genetics/genomics
• Looking at what can go wrong in cohorts identified through genetic/ genomic testing – In the discovery phase, how can you recruit people with a specific phenotype/genotype so you can discover the genomic basis for a specific phenotype (application in germline, neuro and oncology)
• Basis for a good laboratory partner: Pre-screening of labs
• Cohorts and clinical design: What positives are you accepting in the clinical setting?

10:30 am Panel Discussion: Equity, Diversity & Inclusion in the Rare Disease Healthcare Community


This panel discussion is designed to bring value to all leaders in healthcare looking to unlock the potential of their team, career and business. Through tapping in to multiple diverse perspectives and experiences we can accelerate innovation and drive progress in the provision of care.

11:15 am Morning Speed Networking Session

12:00 pm Biomarker Identification in Rare Neuroendocrine Cancer


• Understand molecular biomarkers in rare cancer
• Understand predictive and prognostic biomarker in rare cancer
• Understand the incorporation of biomarkers in clinical trials

12:30 pm Results From the First Cohort of Phase 1b Clinical Trial of RGLS4326 for the Treatment of Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD)

  • Edmund Lee Executive Director, Biology, Regulus Therapeutics


• Translational research leading up to the development of clinically relevant urinary biomarkers for ADPKD
• Preclinical data supporting the use of the newly-developed biomarkers in RGLS4326 clinical trials
• Clinical data demonstrating target engagement and proof of mechanism in early phase of clinical development

1:00 pm Biomarkers in Sickle Cell Disease & Their Application to Gene Therapy

  • Carlo Brugnara Director, Hematology Lab Professor of Pathology, Harvard Medical School


• How can we use biomarkers to better collect data and characterize patients with sickle cell and thalassaemia?
• How to identify biomarkers already validated and collect information to document response to gene therapy
• Using the identification of good biomarkers to show future research needed to collect better data and design studies

1:30 pm Lunch Break

Designing Robust Biomarker Validation Plans for Meaningful Conclusions

2:30 pm Longitudinal Monitoring of Immune Biomarkers for Reliable Readouts

  • Matthias Von Herrath Vice President & Senior Medical Officer, Global Chief Medical Office, Novo Nordisk


• Many immune biomarkers vary considerably over time
• It has been difficult to correlate a marker with a clinical outcome
• Often large studies with clinical endpoints are needed

3:00 pm Interactive Roundtable Discussion: ​Interactive Roundtable: New Solutions for Old Problems. Can Non-Invasive Biomarkers be the Clue?

  • Mathias Leinders Associate Director, Clinical Development Neurology, Ionis Pharmaceuticals


As non-invasive means of sample collection show promise towards a more patient-centric approach to biomarker testing in rare disease, the industry is asking:
• How can fluid testing in lieu of tissue be used to make good treatment decisions?
• Outside oncology, where is the development of liquid biomarkers showing clinical utility?
• Particularly in neurology, how can non-invasive testing be used to determine therapeutic concentration in a desired location?

3:45 pm Consortia-based Analytical Validation of Assays for Drug Development

  • Wesley Horton Scientific Project Manager, Foundation for the National Institutes of Health


• Defining a biomarker context of use and building evidentiary criteria to support its final use as a drug development tool
• Challenges and opportunities of blood-based measures for clinical trial enrichment strategies in CNS
• Leveraging cross-stakeholder engagement to design and implement a pre-competitive collaboration for familial f-FTD and allied disease areas (f-ALS, HD, and early-onset AD)

4:15 pm Chair’s Closing Remarks, End of Day One & Networking

  • Katherine Call Former Senior Director, Head of Proteogenomics, Sanofi Genzyme


We look forward to welcoming you back for Day Two!