Neurological Spectrum and Genotype-Phenotype Correlation for DN1L Related Disorders
* You will be redirected to the BCM DCPD credit management site when claiming credit and may be asked to register or log in.
In this presentation, Dr. Michael Wangler discusses his lab's research studying the clinical phenotypic spectrum of symptoms seen in DNM1L-related disorders, symptoms including epilepsy, neuropathy, and optic atrophy. He reviews the results of the research that was conducted Drosophila models of this genetic variant, and how this informs what clinicians have seen in patients with this genetic disorder.
This Clinical Genetics Conference session took place on Monday, October 7, 2024 at 4:00 p.m. and has been approved for CME and Social Work credit.
Activity Information
How to Claim Credit
You may claim credit after watching this activity.
You will be redirected to the BCM DCPD credit management site when claiming credit and may be asked to register or log in.
Needs Statement
Clinical geneticists, residents, fellows, laboratory directors, genetic counselors, nurse practitioners, nurses, and medical and genetic counseling students need to receive regular updates on advances in clinical genetics research and in genomic diagnostics and therapeutics. Special emphasis will be given to fetal therapy for genetic disorders, therapeutic applications of the CRISPR/Cas9 system, and methods for decoding exome and genome sequences. The series aims to expand the knowledge of learners, provide the skills to interpret genomic studies, enhance the quality of medical genetics care, and improve patient outcomes.
Educational Objectives
At the conclusion of the activity, the participants should be able to:
- Describe the phenotypic spectrum related to the DNM1L gene.
- Review the emerging classes of variants in DNM1L.
- Discuss the role for drosophila models in understanding DNM1L related disorders.
Target Audience
Professional Categories
- Physicians
- Medical Students
- Fellows
- Residents
- Nurses
- Other Health Professionals
Specialties
- Medical Genetics and Genomics
Interest Groups
- Hospital Medicine
Activity Evaluation
Evaluation by questionnaire will address program content, presentation, and possible bias.
Educational Methods
- Lectures
Accreditation/Credit Designation
Baylor College of Medicine is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.
Baylor College of Medicine designates this enduring material activity for a maximum of 0.75 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Social Work: The Baylor College of Medicine Division of Continuing Professional Development (License Number 7270) is an approved continuing education provider for Social Workers through the Texas State Board of Social Worker Examiners. This activity has been approved for 0.75 continuing education unit.
Activity Director
Term of Approval
October 1, 2024 through October 31, 2026. Original release date: October 1, 2024.
Disclosure Policy
Baylor College of Medicine (BCM) is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education (CME) for physicians. BCM is committed to sponsoring CE activities that are scientifically based, accurate, current, and objectively presented.
In accordance with the ACCME Standards for Commercial Support, BCM has implemented a mechanism requiring everyone in a position to control the content of an educational activity (i.e., directors, planning committee members, faculty) to disclose any relevant financial relationships with commercial interests (drug/device companies) and manage/resolve any conflicts of interest prior to the activity. Individuals must disclose to participants the existence or non-existence of financial relationships at the time of the activity or within 24 months prior.
In addition, BCM has requested activity faculty/presenters to disclose to participants any unlabeled use or investigational use of pharmaceutical/device products; to use scientific or generic names (not trade names) in referring to products; and, if necessary to use a trade name, to use the names of similar products or those within a class. Faculty/presenters have also been requested to adhere to the ACCME's validation of clinical content statements.
BCM does not view the existence of financial relationships with commercial interests as implying bias or decreasing the value of a presentation. It is up to participants to determine whether the relationships influence the activity faculty with regard to exposition or conclusions. If at any time during this activity you feel that there has been commercial/promotional bias, notify the Activity Director or Activity Coordinator. Please answer the questions about balance and objectivity in the activity evaluation candidly.
All of the relevant financial relationships listed for these individuals have been mitigated.
Disclosures
The following individual(s) has/have reported financial or other relationship(s) with commercial entities whose products/services may relate to the educational content of this activity:
Presenter
-
Michael Wangler, M.D.
Associate Professor of Molecular and Human Genetics
Baylor College of Medicine
Disclosure:
Nothing to disclose.
Activity Director
-
Seema R. Lalani, M.D.
Associate Professor
Baylor College of Medicine
Disclosure:
- Intellectual Property: UpToDate® (Wolters Kluwer Health)
Planning Committee Members
-
Charles Difalco, M.D.
Pediatrics Genetics Fellow
Baylor College of Medicine, Texas Children’s Hospital
Disclosure:
Nothing to disclose.
-
Stacey Edwards, M.S., C.G.C.
Certified Genetic Counselor
Baylor College of Medicine
Disclosure:
Nothing to disclose.
-
Seema R. Lalani, M.D.
Associate Professor
Baylor College of Medicine
Disclosure:
- Intellectual Property: UpToDate® (Wolters Kluwer Health)
-
Pilar L. Magoulas, M.S., CGC
Assistant Professor
Baylor College of Medicine
Disclosure:
Nothing to disclose.
-
Chaya N. Murali, M.D.
Pediatric Geneticist
Baylor College of Medicine
Disclosure:
- Research Support: Biomarin Pharmaceuticals (ended)
-
Andrea Moon, M.S., C.G.C.
Assistant Professor
Baylor College of Medicine
Disclosure:
Nothing to disclose.