8:50 am Chair’s Opening Remarks


9:00 am Neurofilament Light Chain (NfL) as a Potential Biomarker in Hereditary Transthyretin-Mediated (hATTR) Amyloidosis

  • Paul Nioi Senior Director, Translational Research, Alnylam Pharmaceuticals


  • Hereditary transthyretin amyloidosis is a progressive and fatal disease caused by mutations in the TTR gene that can lead to both cardiomyopathy and polyneuropathy.
  • No blood based biomarkers exist that allow diagnosis, disease progression or response to therapy to be easily monitored.
  • We conducted an unbiased proteomic analysis of blood samples from the APOLLO Phase 3 clinical trial of Patisrian (an RNAi therapeutic) and identified neurofilament light chain as a potential biomarker of polyneuropathy in hATTR.

9:30 am Exosomes in Diagnosis & Therapy of Neurodevelopmental Disorders

  • Pranav Sharma Founder & Chief Scientific Officer & Staff Scientist, Xosomix & Scripps Research


  • Exosomes as a biomarker for nervous system dysfunction in Rett Syndrome
  • Use of exosomes in the therapy of Rett Syndrome

10:00 am Selection and validation of a multisystem biomarker panel to aid in the diagnosis, predict and monitor treatment response in rare renal diseases.

  • Tobin Cammett Director, Biomarker Development, Alexion Pharmaceuticals


  • Combinations of vascular, renal and complement biomarkers can unify an otherwise rare and heterogenous patient population such as atypical Hemolytic Uremic Syndrome
  • Individual biomarkers within a patient population can be prognostic, predictive and/or pharmacodynamic for treatment response
  • Timing of blood and urine collection, processing, and storage are critical parameters to control to ensure accurate results including range of normal donors
  • Assay validation and use of stabilizing buffers are critical considerations for some biomarkers and matrices to ensure high-quality data for statistical analysis as well as collection of accurate meta data at time of sample collection (e.g. dialysis, TPE, etc.)

10:30 am The complexity of biomarker validation and utilitization in mitochondrial disease


  • Although caused by genetic mutations, specific heridity properties for mitochondrial disease genes mean phenotypic expression of disease is extremely heterogeneic, and with it its classification and diagnosis
  • Several biomarkers have been suggested for mitochondrial disease (eg for MELAS), which will be briefly discussed
  • Scientific and regulatory challenges for utilization of biomarkers for phase 3 development will be discussed

11:00 am Panel Discussion: Women & Diversity in Precision Medicine


With a shortage of female representation in senior healthcare positions, this discussion is designed to engage, inform and connect the community on how we can advance female career progression. Get involved in this session and help create inclusive working environments to recognize and champion the achievements of all.

Panellists to be announced August 2020!

11:40 am Morning Refreshments

12:00 pm Identifying a Biomarker Signature to Predict Complete Response to Itacitinib & Corticosteroids in Acute Graft Versus Host Disease


  • Acute graft versus host disease (aGVHD) is a potentially life threatening disease that develops in patients following hematopoietic stem cell transplantation
  • Important need for biomarkers which can stratify responders and non-responders in clinical trial settings to facilitate more personalized approaches to treatment
  • Broad proteomic analysis of aGVHD patients treated with the combination of itacitinib and corticosteroids identified a number of potentially predictive biomarkers which may identify aGVHD patients with a higher probability of achieving complete response

12:30 pm Use of Discovery & Potential Clinical Biomarkers in a Novel Therapeutic Approach to Parkinson’s Disease

  • Kenneth Rhodes Senior Vice President, Therapeutics Discovery, Wave Life Sciences


  • We recently discovered a novel target and mechanism for disease modification in Parkinson’s disease
  • This talk will describe the preclinical studies and biomarkers that were used to advance our lead molecule, YTX-7739, into clinical development
  • This talk will also describe how we intend to use biomarkers to assess the impact of YTX-7739 on patients with Parkinson’s disease and related a-synucleinopathies

1:00 pm Comprehensive Exploratory Study to Identify Novel Biomarkers for Pompe Disease Reveals New Insights into Pathway Dysregulation in Pompe Patients

  • Kelly George Senior Scientist, Metabolic & Lysosomal Storage Diseases, Sanofi


  • Pompe disease is a rare autosomal recessive lysosomal storage disorder in which a lack of acid alpha glucosidase (GAA) leads to glycogen accumulation within cells
  • Patients with Pompe disease present with muscle weakness, respiratory compromise or failure, and cardiac failure
  • The current clinical biomarkers in use, including glycogen content post muscle biopsy, MRI, CRIM status, and urinary Hex4 are invasive, technically challenging, or more useful for monitoring the infantile form of the disease
  • An unbiased approach combining multi-omic profiling and immunoassays of plasma and urine, and transcriptomic profiling of skeletal muscle samples from late onset Pompe patients identified novel biomarker candidates and pathways that are altered with disease

1:30 pm Networking Lunch


2:00 pm Development & Implementation of Diagnostics for Rare Diseases


  • Novel diagnostic approaches for rare diseases
  • Rapid diagnostics at Point of Care for diagnosis and disease management
  • Role of diagnostics in rare genetic diseases

2:30 pm Facilitating Access to Diagnostics for Rare Disease

  • Thomas Pisani Director, Diagnostic Devices, Medical Device CoE, Takeda


  • Diagnostic programs in a pharmaceutical milieu
  • Rare disease diagnostic models
  • Practical considerations Rare Disease

3:00 pm Afternoon Refreshments

3:30 pm A Drug Development Perspective on Diagnostic Regulatory Strategy

  • Krystin Meidell Manager, Regulatory Affairs CMC Medical Devices & Combination Products, Biogen


  • A brief overview of diagnostics and the regulatory landscape in two major markets
  • Applying regulatory strategy to facilitate smoother clinical trials and commercial applications

4:00 pm Panel Discussion: Cutting-Edge Diagnostic Developments & Applications

  • George Bashirians Senior Director & Diagnostics Lead, Non-Oncology Programs, WRD Target Sciences, ES&I, Pfizer
  • Jana Von Hehn Senior Director, Research & Clinical Strategy, Rett Syndrome Research Trust


  • Assessing the effectiveness of a therapeutic agent in a marker-defined patient population
  • Enriching prospective and retrospective clinical trials with the analysis of drug efficacy
  • Delivering robust analytical and clinical validation of a biomarker test to support surrogate efficacy end points
  • Understanding regulatory perspectives on medical diagnostics for rare diseases
  • Companion vs complimentary: Which test is right for your therapeutic application?
  • Establishing appropriate cost-effective methods for improved marketability of rare disease drug-Dx products
  • Diagnostic development pathways in rare disease and the impact of this on drug development

5:00 pm Chair’s Closing Remarks & End of Day One