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Analyzing Real-World Data & Investigating Genotype-Phenotype Data to Support Precision Medicine Drug Development in Rare Disease

Analyzing Real-World Data & Investigating Genotype-Phenotype Data to Support Precision Medicine Drug Development in Rare Disease

Monday, June 22, 2020 | 10am EDT (NA) / 3pm BST (UK) / 4pm CEST (EU-Central) 90 min


Real-world data can help us understand rare disease patient populations at a fundamental level, but how can we leverage this information and incorporate multiple data sources to deepen our understanding of the natural history of a disease and better identify tangible targets for the development of precision medicines?

To support virtual mapping of disease progression and better understand comorbidities, longitudinal real-world data sets can help identify potential genotype-phenotype relationships and may provide supplementary information to the standard variant classification process of determining mutational pathogenicity.

Coupled with physician diagnostic coding from the patient care setting, advanced analyses of these disparate data could improve how our industry diagnoses patients, designs and conducts trials and enables more efficient development of targeted therapies.

Join this webinar for an in-depth discussion on predictive modeling with real-world data to better understand the patient journey in rare disease. The presenters will share their applications of real-world data against co-existing conditions documented by the ICD codes across longitudinal data subsets for individuals with specific mutations of interest. Learn how their exploratory analyses can help identify symptoms and biochemical parameters that may help patients and physicians reach earlier, more accurate diagnoses.



Leone Atkinson, MD, PhD, Executive Director, Rare Disease and Pediatrics Team, Covance

Dr. Leone Atkinson is a neurologist with a doctorate in Medical Genetics and has over 17 years of drug development experience with pharma, biotech and CROs across Phase I-IV. She is dedicated to implementing innovations to improve both success and time to approval of investigational treatment for rare diseases.


Fred Derosier, DO, Executive Director, Rare Disease and Pediatrics Team, Covance

Dr. Fred Derosier is an experienced clinical medicine and pharmaceutical industry physician with 18 years of pharma expertise encompassing clinical research and development across Phases I-III and medical affairs strategy including Phase IV trials in the neurosciences and rare diseases. He is also experienced with clinical development across a variety of medical platforms including small molecules, combination products, biologics and RNA therapeutics.


Thomas Wells, MS, CEO & Cofounder, Precision Digital Health

Thomas Wells has 20+ years of experience in Life Sciences and Healthcare, specializing in clinical trials and bioinformatics. He founded Precision Digital Health in 2015. The company had developed a next generation real-world evidence (RWE) platform to support clinical research.

Who Should Attend?

  • Chief Development Officer
  • Medical Director
  • Operational Director
  • Clinical Development Director
  • Physicians
  • Clinical Operations
  • Commercial and Sales
  • Chief Medical Officer
  • Scientists
  • Clinical Development Manager

What You Will Learn

In this webinar, attendees will learn about:

  • The application of real-world data to investigate genotype-phenotype data and the natural histories of disease progression
  • How to better understand patient populations and support the key principles of precision medicine
  • The potential role of expanded, longitudinal data sets in improving the diagnosis of patients, as well as the design and conduct of clinical trials

Xtalks Partner


Covance is a business segment of LabCorp, a leading global life sciences company, which provides contract research services to the drug, medical device and diagnostics, crop protection and chemical industries. Employing over 21,000 people worldwide, we are the world’s most comprehensive CRO, dedicated to improving health and improving lives.

Covance is a global leader in nonclinical safety assessment, clinical trial testing and clinical trial management services. Our unique perspectives are based on decades of scientific, medical and regulatory expertise. We generate more safety and efficacy data to support drug approvals than any other company, supporting our clients’ complete lifecycle management.

Together with our clients, Covance transforms today’s healthcare challenges into tomorrow’s solutions. Visit us at

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