Welcome to the Biomarkers for Rare Diseases Summit!

As reports predict the global biomarker test market will exceed $16bn in coming years, the ability to identify and utilize predictive, diagnostic and prognostic biomarkers is a priority for drug developers. In rare disease, affecting over 400 million worldwide and where clinical insights exist for only around 400 of the 7000+ disease identified, biomarkers are a valuable tool to accelerate drug development where there is current great unmet need. With this, we were excited to announce the launch of the inaugural Biomarkers for Rare Diseases Summit.

inaugural Biomarkers for Rare Diseases Summit.

Uniting world leaders developing novel therapeutics for rare disease, we discussed learnings, challenges and future directions at the only summit dedicated to approaches to identify, test and proof clinical biomarkers in rare disease for regulatory approval. From identifying disease driving biomarkers, robust assay validation, harnessing latest technologies and demonstrating therapy efficacy, this was the definitive platform to accelerate bench to bedside rare disease development towards regulatory filing and patient populations.

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Explore the Characterization and Identification of Disease Driving Biomarkers

Considering the genotypic and phenotypic variance of disease, attendees discussed approaches and hurdles to identify and discover biomarkers, and how this informs future data collection and study design with Vifor Pharma, Center for Genomic Interpretation, NIH, Regulus Therapeutics & Boston Children’s Hospital

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Design Robust Biomarker Validation Plans for Meaningful Conclusions

With the variability of biomarkers over time and assay analytical validation a significant hurdle, we heard progress and strategies to better define biomarkers and support their use as a drug development tool from the likes of Novo Nordisk & Foundation for the National Institutes of Health

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Demonstrate the Clinical Utility of Biomarkers for Rare Disease Drug Development

From retrospective and prospective data informing patient identification for clinical trials to novel natural history study design, exclusive clinical case studies and insights were revealed  from Diamyd, Triplet Therapeutics & CHDI Foundation.

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Show Therapy Efficacy Demonstration in Preparation for Regulatory Filing

As regulatory agencies endorse the need for flexibility in the review process, the attendees considered how biopharma is approaching the definition of acceptable endpoints and discussed navigating regulation pathways and a potential future roadmap for the approval of their pipelines with Takeda & Foundation for the National Institutes of Health

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Detect & Diagnose Disease Earlier Harnessing Emerging Techniques and Technologies

Breakthroughs in technology are driving industry’s ability to diagnose disease earlier, investigate pathophysiology and identify new drug targets, we heard expert opinions on technologies you should consider as well as their cost and practical application from Rady Children’s Institute for Genomic Medicine, Johnson & Johnson & Passage Bio

The Expert Speaker Faculty Included:

Domenico Merante

Global Clinical Development TA Lead Nephrology & Orphan Disease Area

Vifor Pharma

Jaydira Del Rivero


National Cancer Institute, NIH

Matthias Von Herrath

Vice President & Senior Medical Officer, Global Chief Medical Office

Novo Nordisk

Ulf Hannelius

President & Chief Executive Officer

Diamyd Medical

Carlo Brugnara

Director, Hematology Lab Professor of Pathology

Harvard Medical School

Julie Eggington

Co-Founder & Chief Executive Officer

Center for Genomic Interpretation

Robert Latzman

Associate Director, Quantitative Sciences


Stephen Kingsmore

President & Chief Executive Officer

Rady Children’s Institute for Genomic Medicine

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