Rare Genomics Workshop

From Diagnosis to Therapeutics: Institutional and International Approaches to Rare Disease Genomics

A highly interactive workshop bringing together leaders in rare disease genomics from Boston Children’s Hospital, Dubai Health’s Al Jalila Children’s Hospital, and the region to explore scalable institutional programs, international consortia, AI-enabled interpretation, non-coding and multi-OMIC approaches, and pathways from diagnosis to therapeutics.

Program Highlights:

• Screening, Early Detection & Prevention: Newborn and population genomic screening, and pathways to earlier diagnosis and intervention.
• Bridging Boundaries: Why international rare disease consortia matter for diagnosis, gene discovery, and clinical action.
• New Frontiers for Unsolved Cases: Long-read sequencing, multi-OMICs, non-coding variation, and AI tools to improve diagnostic yield.
• From Genomics to Therapeutics: Platforms for functional validation, drug repurposing, gene-based therapies, and clinical translation.

Continuing Education

In support of improving patient care, Boston Children’s Hospital is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

Credit Designation

• Physicians: Boston Children’s Hospital designates this live activity for a maximum of 5.5 AMA PRA Category 1 Credits™. Physicians should only claim credit commensurate with the extent of their participation in the activity.
• Nurses: Boston Children’s Hospital designates this activity for 5.5 contact hours for nurses. Nurses should only claim credit commensurate with the extent of their participation in the activity.
• Pharmacists: This activity carries a maximum of 5.5 contact hours. Pharmacists should only claim credit commensurate with the extent of their participation in the activity.
• Physician Assistants: Boston Children’s Hospital has been authorized by the American Academy of PAs (AAPA) to award AAPA Category 1 CME credits for activities planned in accordance with AAPA CME Criteria. This activity is designated for 5.5 AAPA Category 1 CME credits. PAs should only claim credit commensurate with the extent of their participation.

Claiming Credit
Attendees can self-claim credit and download their certificate through their Boston Children’s Center for Educational Excellence and Innovation (CEEI) profile following the workshop.

Learning Objectives

• Compare UAE and US approaches to genomic screening and early detection, and select testing strategies based on clinical actionability, local prevalence, family context, and available follow-up care.
• Determine when an unresolved rare disease case should proceed from clinical review and reanalysis to long-read sequencing, RNA or methylation studies, multi-omics, AI-supported analysis, or functional investigation.
• Apply practical standards for phenotype capture, variant interpretation, consent, results communication, referral, data governance, and patient recontact in institutional and international collaboration.
• Assess therapeutic readiness after molecular diagnosis using disease mechanism, natural-history data, biomarkers, functional models, trial infrastructure, safety monitoring, and access considerations.
• Formulate at least one feasible UAE-US or regional collaboration, referral pathway, case-review forum, or pilot project that could improve diagnosis, management, or access to therapeutics.