Genetic Variant Interpretation in Monogenic Neurological Disorders Workshop
December 6-7, 2023
Fayez S. Sarofim Research Building IMM 104
Beth Robertson Auditorium
1825 Pressler St, Houston, TX 77030
Please save the date for an immersive and advanced workshop on Genetic Testing Interpretation of Variants in Neurological Disorders. This specialized workshop is designed to give participants an in-depth understanding of cutting-edge techniques and methodologies for analyzing genetic data related to neurological conditions. The workshop is hosted in collaboration with leading experts in the field, and aims to equip attendees with the knowledge and skills to interpret complex genetic variants with clinical-level precision and confidence while drawing from all recent relevant research-level evidence. Accurate interpretation of complex genetic variants can unlock deeper insights into the genetic basis of diseases and pave the way for personalized and targeted therapies.
Attendance at the workshop is entirely free, thanks to the generous support of our sponsors, but space is limited. Register here to request attendance and secure your spot.
Information about the event is below. Please check back often, as we will continue adding information.
If you would to ask a question, please email us here.
About the Event
The workshop emphasizes the American College of Medical Genetics and Genomics (ACMG) variant interpretation guidelines, both in their current form and potential future iterations. These guidelines offer a standardized framework for evaluating the clinical importance of genetic variants, providing valuable criteria to classify them as pathogenic, likely pathogenic, benign, or of uncertain significance. As the field of genomics continues to evolve rapidly, continuous updates to the ACMG guidelines ensure their ongoing relevance and accuracy in assessing variant pathogenicity.
However, it is essential to recognize that the guidelines alone are insufficient for comprehensive genetic test interpretation. To navigate the complexities of genetic data analysis effectively, a combination of the ACMG variant interpretation guidelines with clinical and biological knowledge and expertise is mandatory. Clinicians and researchers must integrate their domain-specific knowledge, patient information, and disease context to make informed and precise decisions in diagnosing and treating individuals with neurological disorders and other genetic conditions. Advanced genetic test interpretation beyond ACMG-level standards can lead to a higher certainty of the pathogenic and likely pathogenic interpretations and reduce the number of interpretations of uncertain significance.
This workshop will demonstrate the usage of freely available online bioinformatic resources and semi-automated decision support tools to enhance variant interpretation. By leveraging these computational resources, clinicians and researchers can efficiently process vast amounts of genomic data and identify potentially pathogenic variants more accurately. These tools significantly reduce the burden, complexity, and time required for advanced genetic test interpretation, complementing the ACMG guidelines and enhancing the overall efficiency of the analysis process.
Through a series of theoretical lectures, interactive case studies, and practical sessions, participants will gain practical experience in effectively integrating the ACMG guidelines, clinical knowledge, and bioinformatic resources for comprehensive genetic test interpretations. This workshop presents a unique opportunity to advance your skills and expertise in genetic testing and contribute to the progress of personalized medicine in neurological disorders.
Target Audience
This workshop is tailored for neurologists, geneticists, genetic counselors, students, postdoctoral scholars, clinical scientists, and principal investigators working with clinical genetic data. Participants from diverse backgrounds are encouraged to apply to foster cross-disciplinary learning and collaboration.
Topics Covered
- Advanced Genomic Technologies
Explore the latest genomic technologies and tools used to identify and characterize genetic variants linked to neurological disorders. Learn how to leverage these advancements to enhance your research and clinical practices. - Rare variant Prioritization and Filtering
Understand the importance of variant prioritization and filtering strategies to distinguish pathogenic variants from benign ones. Gain hands-on experience utilizing various bioinformatics resources to analyze and interpret genomic variants efficiently. Explore their strengths and limitations in the context of neurological disorders. - Functional Annotation of Variants
Dive into functional annotations and functional predictions to assess the potential molecular impact of variants on neurological disorder phenotypes. Discover how to integrate this knowledge into your genetic testing interpretation. Learn about examples where assessing variant function is mandatory for selecting therapies. - Phenotype-based variant prioritization
Learn about how the clinical presentation of a patient can be standardized and integrated with the variant interpretation process. Explore how clinical information may predict the genotype. - Case Studies and Real-life Examples
Engage in interactive case studies and real-life examples of genetic variants identified in individuals with neurological conditions. Analyze and interpret these variants under the guidance of experienced instructors. - Polygenic risk for neurological disorders
Study the methods and current status of polygenic risk assessment across neurological disorders. Learn about the possible midterm application of polygenic risk scores in clinical care.
Agenda
| Day 1 | Type | Topic |
|---|---|---|
| 7:30-8 am | Registration/Breakfast | Registration/Breakfast |
| 8-8:05 am | Welcome | |
| 8.05-9 am | Lecture | Basics of clinical genetics |
| 9-10:15 am | Lecture | Neurological disorders through a genetic lens |
| 10:15-10:30 am | Coffee break | Coffee break |
| 10:30 am-Noon | Lecture (25%) + hands on (75%) | How to assess if my patient has a genetic disorder & how to decide what test to order |
| Noon-1 pm | Lunch Break | Lunch break |
| 1-2 pm | Lecture 75% + 25% Q &A | Variant pathogenicity classification – ACMG overview, 2015 & 2024 |
| 2-3 pm | Lecture 50% + hands on (50%) | Variant pathogenicity classification – ACMG – population evidence |
| 3-3:15 pm | Coffee break | Coffee break |
| 3:15-4 pm | Lecture 50% + hands on (50%) | Variant pathogenicity classification – ACMG – clinical evidence |
| 4-5 pm | Lecture 50% + hands on (50%) | Variant pathogenicity classification – ACMG – molecular evidence |
| Day 2 | ||
| 7:30-8 am | Breakfast | Breakfast |
| 8-9 am | Lecture 75% + 25% Q &A | Variant pathogenicity classification of CNVs – ACMG/ClinGen |
| 9-10 am | Lecture 75% + 25% Q &A | From variant pathogenicity to disease mechanism |
| 10-10:15 am | Coffee break | Coffee break |
| 10:15 am-Noon | Lecture 25% + hands on (75%) | Variant interpretation case studies |
| noon-1 pm | Lunch break | Lunch break |
| 1-2 pm | Lecture 75% + 25% Q &A | Negative or inconclusive tests - what to consider |
| 2-3 pm | Lecture 75% + 25% Q &A | Role of genetic counselling |
| 3:00-3:15 pm | Survey | Sharing of workshop survey |
How to Apply
Due to space constraints, we can only accept a limited number of participants. To secure your spot, please complete the online application form. Briefly describe your background and motivations for attending the workshop in the application. The organizing committee will review applications, and selected participants will receive confirmation via email.
Prerequisites
All participants must bring a laptop to engage in hands-on exercises and practical sessions actively. No programming experience is required, making this workshop accessible to individuals from various expertise levels. Participants may submit 1-3 variants before the workshop to have these investigated during the meeting.
CME Credit
ACCREDITATION STATEMENT
McGovern Medical School at the University of Texas Health Science Center at Houston is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.
CREDIT DESIGNATION
McGovern Medical School at the University of Texas Health Science Center at Houston designates this live activity for a maximum of 13.25 AMA PRA Category 1 Credits™ Physicians should claim only the credit commensurate with the extent of their participation in the activity.
If you have any questions about this event, please email us here.
Exhibitors
