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

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- 7-9 December 2025
- Sidra Medicine
Target Audience
- Physicians
- Allied Health Professionals
- Nurses
- Others (Scientists and Researchers)
Facilitator/s
- Rozaimi Razali (Assistant Professor, Bioinformatician)
- Najeeb Syed (Staff Scientist, Bioinformatician)
- Aljazi Al Maraghi (Staff Scientist, Bioinformatician)
- Shahzad Ahmad (Staff Scientist, Bioinformatician)
- Ms. Rulan Shaath (Research Specialist, Bioinformatician)
Overall Learning Objectives
By the end of the RARE-GEN Clinical Masterclass, participants will be able to:
- Apply internationally recognized variant interpretation frameworks (e.g., ACMG/AMP guidelines) to classify genetic variants in rare disease diagnostics.
- Analyze genomic data using evidence-based tools such as ClinVar, ClinGen, GenCC, and gnomAD to support accurate clinical decision-making.
- Evaluate real-world cases and prioritize variants based on gene-disease validity, population frequency, and phenotypic relevance to improve diagnostic outcomes.
Program Overview
DAY 1 – 07/12/2025
Time | Session Title/Topic | Session-Specific Learning Objectives At the end of this session, participants will be able to: |
---|---|---|
09:00-10:00 AM (1 hrs) |
ClinGen Overview
Speaker: Erin Riggs |
|
10:00-11:00 AM (1 hrs) |
Introduction to CLIN Var
Speaker: Steven Harrison |
|
11:00 – 11:30 AM | Coffee Break | |
11:30 – 12:30 PM (1 hr) |
Gene Curation and Supporting Resources
Speaker: Erin Riggs |
|
12:30 – 1:30 PM (1 hr) |
Gene Curation SOP and Curation Examples
Speaker: Erin Riggs |
|
01:30 – 02:30 | Lunch Break | |
2:30 – 3:30 PM (1 hr) |
Group Gene Curation Examples
Speaker: Erin Riggs and Steven Harrison |
|
3:30 – 4:30 PM (1 hr) |
Introduction to GenCC
Speaker: Erin Riggs |
|
4:30 – 5:30 PM (1 hr) |
Navigating gnomAD
Speaker: Steven Harrison |
|
DAY 2 – 08/12/2025
Time | Session Title/Topic | Session-Specific Learning Objectives At the end of this session, participants will be able to: |
---|---|---|
09:00-10:00 AM (1 hrs) |
Variant Curation
Speaker: Steven Harrison |
|
10:00-11:00 AM (1 hrs) |
ClinGen Variant Specifications
Speaker: Steven Harrison |
|
11:00 – 11:30 AM | Coffee Break | |
11:30 – 12:30 PM (1 hr) |
CNV Classification
Speaker: Erin Riggs |
|
12:30 – 1:30 PM (1 hr) |
WGS Analysis and Workflow
Speaker: Steven Harrison |
|
01:30 – 02:30 | Lunch Break | |
2:30 – 3:30 PM (1 hr) |
Group Variant Curation Examples
Speakers: Erin Riggs and Steven Harrison |
|
3:30 – 4:30 PM (1 hr) |
Case Analysis
Speaker: Steven Harrison |
|
4:30 – 5:30 PM (1 hr) |
Patient Registries (GenomeConnect)
Speaker: Erin Riggs |
|
DAY 3 – 09/12/2025
Time | Session Title/Topic | Session-Specific Learning Objectives At the end of this session, participants will be able to: |
---|---|---|
09:00-09:30 AM (0.5 hrs) |
Introductory Remarks and The Genetic Counselors role in Variant Interpretation
Speaker: Margaret Harr Facilitator: Reem Bux |
|
09:30-11:00 AM (1.5 hrs) |
Open-Access Artificial Intelligence and the Patient Experience workshop
Speaker: Margaret Harr |
|
11:00 – 11:30 AM | Coffee Break | |
11:30 – 12:00 PM (0.5 hrs) |
Introduction to Multidisciplinary Care Clinics
Speaker: Margaret Harr |
|
12:00 – 12:30 PM (0.5 hrs) |
There’s no “I” in TEAM
Speaker: Margaret Harr |
|
01:30 – 02:30 | Lunch Break | |
2:30 – 3:30 PM (1 hr) |
Building an MDC from the ground up
Speaker: Margaret Harr |
|
3:30 – 5:00 PM (1.5 hrs) |
Syndrome Specific Multidisciplinary Clinics
Speaker: Margaret Harr |
|
5:00 – 5:30 PM (0.5 hrs) |
Closing the Loop: Key Takeaways and Implementation Tools
Speaker: Margaret Harr |
|