RARE-GEN Clinical Masterclass: Advanced Variant Classification and Prioritization in Rare Disease Diagnosis

Date: 7-8 December 2025
Time: 09:00 -05:00 pm, two days.
Location: Sidra Medicine Research Branch/ Outpatient clinic, Floor 5 and 6.

Overview

The RARE-GEN Masterclass is a two-day intensive training designed to strengthen regional capacity in rare disease genomics, gene and variant curation, and clinical data interpretation. Led by internationally recognized experts from the Clinical Genome Resource (ClinGen), the program introduces participants to key tools, standards, and databases that underpin evidence-based genomic medicine.

Through a mix of expert lectures, interactive case discussions, and group-based curation exercises, attendees will gain hands-on experience with platforms such as ClinVar, GenCC, and gnomAD, as well as practical applications of variant classification guidelines, CNV interpretation, and WGS workflows. The masterclass also highlights the role of patient registries such as GenomeConnect in advancing translational research and patient-centered care.

This program is tailored for students, early-career researchers, genetic counselors, and clinicians across the region who are eager to build practical skills in genomic data analysis and apply them to rare disease diagnostics and discovery.

Objectives

By the end of the masterclass, participants will be able to:

• Understand the structure, mission, and resources of ClinGen and how they support rare disease research.
• Navigate and apply data from ClinVar, GenCC, and gnomAD to clinical and research settings.
• Apply gene and variant curation standards and standard operating procedures (SOPs) to real-world cases.
• Perform group-based gene and variant curation exercises, developing collaborative curation skills.
• Interpret copy number variants (CNVs) and incorporate them into variant classification frameworks.
• Explore whole genome sequencing (WGS) workflows for rare disease analysis.
• Understand the role of patient registries (GenomeConnect) in bridging genomic research and patient engagement.
• Strengthen regional expertise in evidence-based genomic interpretation to support clinical decision-making in rare diseases.

Target Audience

This masterclass is tailored for:

• Genetic counselors involved in patient care and variant interpretation.
• Clinical geneticists and medical specialists managing rare disease cases.
• Students and trainees in genetics, genomics, and biomedical sciences (particularly from QU, HBKU, and regional universities).
• Molecular laboratory scientists and genomic core service providers engaged in sequencing, data analysis, and curation.
• Early-career researchers working on rare disease genomics, variant interpretation, and translational genomics projects.