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: