Cambridge Healthtech Institute’s Inaugural

Rare Disease Genomics and Diagnostics

Precision Medicine in Rare Diseases: From Diagnosis to Gene Therapy

March 27-28, 2024

 

There are currently more than 7,000 known rare diseases, with over 150 million people impacted. The “diagnostic odyssey” often takes 5-7 years and involves multiple physicians and possible misdiagnoses. With 80% of rare diseases having a genetic component, the advances in increased speed and lower cost of next-generation sequencing (NGS) promise to enable quick and accurate diagnosis and fast path to treatment. Cambridge Healthtech Institute’s Inaugural Rare Disease Genomics and Diagnostics meeting will explore recent advances in genomics and strategies for improving rare disease diagnostics, equitable access to genetic screening tests, emerging regulatory and market access strategies, and path to rare disease gene therapies.

 

Coverage will include, but is not limited to:

 

  • Whole genome sequencing and whole exome sequencing for rare disease diagnostics
  • Transcriptomics as a complementary assay for rare disease investigation
  • Newborn screening programs
  • Machine learning approaches for rare disease diagnostics
  • Precision medicine in rare neurological disease
  • Overcoming barriers to correct diagnosis of rare cancers
  • Accessibility for rare disease diagnosis
  • Omics-based strategies to improve variant classification

 

The deadline for priority consideration is September 1, 2023.

 

All proposals are subject to review by session chairpersons and/or the Scientific Advisory Committee to ensure the overall quality of the conference program. Additionally, as per Cambridge Healthtech Institute’s policy, a select number of vendors and consultants who provide products and services will be offered opportunities for podium presentation slots based on a variety of Corporate Sponsorships.

 

Opportunities for Participation:

 

 

For more details on the conference, please contact:

Julia Boguslavsky

Executive Director, Conferences

Cambridge Healthtech Institute

Email: juliab@healthtech.com

 

For sponsorship information, please contact:

 

Companies A-K

Jon Stroup

Sr. Manager, Business Development

Cambridge Healthtech Institute

Phone: (+1) 781-972-5483

Email: jstroup@healthtech.com

 

Companies L-Z

Katelin Fitzgerald

Sr. Manager, Business Development

Cambridge Healthtech Institute

Phone: (+1) 781-247-1824

Email: kfitzgerald@cambridgeinnovationinstitute.com


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