Advanced Workshop on Clinical Genetics in Epilepsies & Neurodevelopmental Disorders

Save the Date!

Confident Variant Classification, Reducing VUS, and Moving from Diagnosis to Prognosis

Event Details

  • Date: December 9–11, 2025
  • Location: TMC3 collaborative building in the new Helix park, 7255 Helix Park Ave Houston, TX.
  • Capacity: Limited to approximately 50 senior medical professionals and 50 advanced medical trainees (PGY-3, PGY-4, or fellows) who order genetic tests for individuals with epilepsy and/or neurodevelopmental disorders. Among senior professionals, priority will be given to adult and pediatric epileptologists and genetic counselors specializing in epilepsy and neurodevelopmental disorders, followed by neurologists and other medical specialties. Scientists, researchers, advocates, advanced practice providers, and registered nurses involved in the care of these patients are also encouraged to apply. Please check back as the online application form will be posted soon!

Overview

This advanced workshop is tailored for professionals with prior experience in clinical genetics, specifically in the context of epilepsies and neurodevelopmental disorders. The program is designed to enhance participants’ ability to confidently classify genetic variants using the latest refinements to ACMG guidelines and advanced bioinformatics tools. Through a combination of lectures, interactive hands-on sessions, and real-world case studies, attendees will deepen their understanding of genotype-phenotype associations, refine their skills in interpreting genetic data, and explore integrative approaches to address complex clinical challenges. This workshop is ideal for those aiming to expand their expertise in personalized medicine and remain at the forefront of advancements in neurogenetics.

Learning Objectives

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

  • Apply the latest modified ACMG guidelines and VCEP refinements specific to epilepsies and neurodevelopmental disorders for state-of-the-art variant classification with confidence.
  • Utilize advanced genomic technologies and bioinformatics tools for variant filtering, functional annotation, and prioritization in neurogenetics.
  • Refine phenotype-driven approaches and genotype-phenotype correlations to improve clinical diagnosis and outcome prognostication in epilepsies and neurodevelopmental disorders.
  • Analyze complex case studies and engage with real-world scenarios to reinforce and expand their expertise in advanced genetic data interpretation.

Target Audience

This advanced course is designed for professionals with experience in the clinical genetics of epilepsies and neurodevelopmental disorders, as well as a basic understanding of the ACMG variant classification guidelines.

Typical participants include:

  • Clinical geneticists and genetic counselors aiming to enhance their variant classification skills and deepen their knowledge of genotype-phenotype associations in epilepsies and neurodevelopmental disorders.
  • Neurologists who routinely order genetic tests and wish to advance their basic knowledge of variant classification.
  • Scientists, translational researchers, rare disease advocates, and professionals from biotech or pharmaceutical companies involved in genetic epilepsy and neurodevelopmental disorder drug programs, who are seeking to broaden and strengthen their knowledge in these areas.

Preliminary Workshop Agenda

Dec 9th – Day 1: Recap of Basics of Clinical Genetics for Epilepsies and Neurodevelopmental Disorders

TimeTopic
08:00–08:30 AM Registration and Breakfast
08:30 – 09:00 AMWelcome & Introduction
09:00 – 10:30 AMLecture & Discussion – Basics of Clinical Genetics in Epilepsies and Neurodevelopmental Disorders, including counselling and test selection
10:30 – 11:00 AMCoffee Break
11:00 – 12:30 PMLecture– Assessing Genetic Testing Needs for Epilepsies and Neurodevelopmental Disorders:
· Pediatric care
· Transition of care
· Adult care
12:30 – 01:30 PMLunch Break
01:30 – 03:30 PMWorkshop (50% Lecture, 50% Hands-on) – Latest ACMG Guidelines and VCEP Refinements for Epilepsies and Neurodevelopmental Disorders
03:30 – 03:45 PMCoffee Break
03:45 – 04:15 PMCase Study Session – Applying ACMG Guidelines to Real-World, Easy-to-Interpret Cases
04:15 – 05:15 PMLecture & Q&A (75% Lecture, 25% Q&A) – Somatic Variant Classification Guidelines
05:15 – 06:30 PMPoster Session and Reception

Dec 10th – Day 2: Advanced Variant Interpretation and Clinical Applications

TimeTopic
08:00 – 09:00 AMBreakfast and Networking
09:00 – 10:30 AMLecture & Q&A (75% Lecture, 25% Q&A) – Genetic Counselling for variants with incomplete penetrance or pleiotropic expression in people with epilepsies and/or neurodevelopmental disorders:
· Copy Number Variants (CNVs)
· Inherited single nucleotide variants (SNVs)
10:30 – 11:00 AMCoffee Break
11:00 AM – 12:30 PMInteractive Workshop 1 – Advanced Use of Bioinformatics Tools for ACMG Guideline Criteria
12:30 – 01:30 PMLunch Break
01:30 – 03:00 PMInteractive Workshop 2 – Using Bioinformatics Tools for Molecular Function Prediction and Outcome Prediction
03:00 – 04:00 PMCase Study Workshop – Phenotype-Driven Variant Prioritization
04:00 – 04:30 PMCoffee Break
04:30 – 06:00 PMLecture & Q&A (75% Lecture, 25% Q&A) – Challenges and Innovations in Genetic Counseling
06:00 – 07:00 PMPoster Session and Reception

Dec 11th – Day 3: Integrative Approaches and Future Directions

TimeTopic
08:00 – 09:00 AMBreakfast and Networking
09:00 – 11:00 AMLecture & Q&A (75% Lecture, 25% Q&A) – Advanced Case Studies: Integrating Deep Phenotype Knowledge and Bioinformatics to Solve Challenging Cases
11:00 – 11:30 AMCoffee Break
11:30 AM – 12:30 PMCase Study Workshop – Approaches for Negative or Inconclusive Genetic Tests After Exome or Genome Sequencing
12:30 – 01:30 PMLunch Break
01:30 – 03:00 PMLecture & Q&A (75% Lecture, 25% Q&A) – Polygenic Risk Assessment
03:00 – 04:00 PMLecture & Q&A (75% Lecture, 25% Q&A) – New disease modifying drugs vs. molecular disease mechanism: What to consider.
04:00 – 04:15 PMCourse feedback and concluding remarks

Additional Information

  • Application & Registration: Due to limited capacity, applications will bereviewed and prioritized based on relevance to clinical genetics in epilepsy and neurodevelopmental disorders. Priority will be given to:
    • Senior Medical Professionals: Adult and pediatric epileptologists, genetic counselors specializing in epilepsy, neurologists, and clinical geneticists. Other specialists (e.g., pediatricians, internists, researchers, and biotech professionals) may be considered based on relevance.
    • Trainees: Adult and pediatric neurology residents (PGY-3, PGY-4) and clinical fellows will be prioritized, followed by epilepsy-focused research fellows, PhD researchers, genetic counseling students, and medical students with relevant experience.

Applicants must complete a brief application form detailing their experience with genetic testing and submit a poster abstract on a related topic. Selected participants will receive an invitation to complete registration and payment. A waitlist will be maintained for high-priority applicants if capacity is reached. The application form and registration will be opened late spring 2025.

  • Registration fees: The registration fees for the workshop are tiered based on professional status, defined as follows:
    • Senior medical professionals: Professionals with advanced qualifications or leadership roles in clinical practice, research, or industry, such as attending physicians, consultants, principal investigators, senior scientists or other domain experts (e.g., PAG leader).
      • High-income countries: $300
      • Other-income countries (low, lower-middle, upper-middle income): $100
    • Medical trainees: Individuals currently enrolled in residency or fellowship programs, or equivalent early-career training positions.
      • High-income countries: $100
      • Other-income countries: Free
  • Requirements:
    • Clinical or Research Experience: Participants should have some prior exposure to genetic test reports or experience interpreting genetic test results for individuals with epilepsies or neurodevelopmental disorders. While an advanced level of expertise is not required, applicants should have at least some hands-on experience with ordering or analyzing genetic tests in clinical or research settings.
    • Baseline Knowledge: A basic understanding of ACMG variant classification guidelines is preferred. Introductory content on this will be provided on Day 1 to ensure foundational knowledge before advanced sessions.
    • Technical Requirements: Attendees must bring a personal laptop for hands-on sessions. No programming experience is required, as all tools used will be web-based, with structured guidance provided during the workshop.
    • Engagement & Collaboration: Active participation in interactive sessions, case discussions, and group activities is expected. A mix of novices and experts will enhance peer learning.
    • Poster Presentation: All participants must present a poster on a workshop-relevant topic, such as a clinical case, research project, or program development initiative related to genetic testing in epilepsy or neurodevelopmental disorders. This will foster knowledge-sharing and networking among attendees.
  • Credits and Certification: Participants will receive CME credits and a certificate of completion.
  • Virtual participation: At this time, it is unclear whether a remote participation option will be available for the workshop. While the event is primarily designed as an in-person experience to facilitate interactive, hands-on sessions and networking opportunities, organizers are exploring the feasibility of offering a virtual format for certain components. Updates regarding remote participation will be provided closer to the event date. Participants interested in attending remotely are encouraged to monitor the registration page or contact the organizers for the latest information.