2nd Annual Robert J. Gorlin Symposium
Precision Medicine: A multidisciplinary approach
Program Chair: Jeanine R. Jarnes, PharmD
February 21, 2024
2:00 – 3:30 PM Eastern Standard Time (EST)
The Robert J. Gorlin Symposium honors the work of Robert James Gorlin, DDS, PhD. Dr. Gorlin was a geneticist, maxillofacial pathologist, and academician at the University of Minnesota School of Dentistry. His groundbreaking research in genetic disorders of the head and neck, spanning over 50 years, revolutionized the understanding of the morphology of lysosomal diseases and many other genetic disorders. The 2nd Annual Robert J. Gorlin Symposium will focus on precision medicine in lysosomal diseases.
The goal of this 90 minute symposium held at WORLDSymposium 2023 will be to address the tremendous opportunity for Precision Medicine in lysosomal diseases. Over the past decade there has been much discussion about “Precision Medicine” and its use for many different diseases, including lysosomal disorders. Although it is not a new concept, more and more researchers and clinicians are recognizing that precision medicine must guide the path forward for patients with lysosomal diseases. At its core, the goal of precision medicine is to customize the treatment plan for a specific individual. This precision approach attempts to utilize expanded genotyping to guide clinicians to determine which treatments will most benefit a specific patient. In lysosomal disorders, the genotype and phenotype of the individual patient are particularly important. Clinicians must keep all of this in mind, along with environmental, geographic and cultural influences. The hope is for all patients with lysosomal disorders to be able to benefit from targeted diagnosis, prevention, and treatment plans. This symposium will tap into the resources of a multidisciplinary panel to provide a comprehensive approach to precision medicine going forward. The session will discuss the history of precision medicine, the role of pharmacogenetics and pharmacogenomics, the status of precision medicine with case examples for several lysosomal diseases, and how to implement precision medicine programs for lysosomal diseases. The session will conclude with a panel discussion and audience Q&A.
Tuesday, February 21, 2023 (2:00 – 3:30 PM)
|Doors Open and Participant Seating
|Welcome and Introduction of Speakers (Jeanine R. Jarnes)
|Overview of Precision Medicine (Jeanine R. Jarnes)
|Case Studies of Multi-Omic Approach for the Diagnosis of Lysosomal Diseases (Filippo Pinto e Vairo)
|NIH-Funded Resources: ClinGen and ClinVar (Jennifer Goldstein)
|Implementation of Pharmacogenomics Programs within Clinical Settings (Jeanine R. Jarnes)
|Panel Discussion and Audience Q&A
At the conclusion of one or more of the proposed activities, participants will be better able to:
- Review the definition of precision medicine, identifying opportunities to impact lysosomal disease diagnosis and treatment.
- Delineate new analytical methods, multi-omic data analysis, and translational research to identify a diagnosis in patients for whom other testing was not sufficient to return a genetic diagnosis.
- Discuss the role of the NIH ClinGen and ClinVar central databases, including the classification of pathogenicity and the resources available to clinicians.
- Identify steps to implement pharmacogenomics and precision medicine programs within clinical settings.
This activity is intended for healthcare professionals involved in the screening, diagnosis, management, and treatment of lysosomal diseases affecting both children and adults, with research and clinically relevant information geared specifically to the following professionals:
- Medical and clinical geneticists; genetic counselors; pediatricians; neurologists; psychologists; nurse practitioners; physician assistants; registered nurses; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, lysosomal diseases.
- Laboratory directors and technicians involved in genetic testing.
- Researchers involved in lysosomal disorders and treatments.
- Clinical, laboratory and research trainees of genetics and all biomedical sciences with a focus on lysosomal diseases.
- Any healthcare and public health professionals who have an interest in medical and clinical genetics and genomics in the area of lysosomal diseases.
- Advocates for patients with lysosomal diseases and their families.
Jeanine R. Jarnes, PharmD, BCOP, BCPS
Assistant Professor, Department of Pediatrics
Pharmacotherapy for Inherited Metabolic Diseases
Advanced Therapies Department
College of Pharmacy, Experimental and Clinical Pharmacology
University of Minnesota
Minneapolis, MN, USA
Filippo Pinto e Vairo, MD, PhD
Department of Clinical Genomics,
Center for Individualized Medicine
Associate Professor of Medical Genetics
Rochester, MN, USA
Jennifer Goldstein, PhD, CGC
ClinGen Biocuration Core
Research Assistant Professor, Department of Genetics
Chapel Hill, NC, USA
This activity was jointly provided by Partners for Advancing Clinical Education (PACE) and WORLDSymposium™
Joint Accreditation Statement:
In support of improving patient care, this activity was planned and implemented by Partners for Advancing Clinical Education (PACE) and WORLDSymposium. PACE is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.
Physician Continuing Education:
PACE designates this live activity for a maximum of 1.5 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Nursing Continuing Education:
The maximum number of hours awarded for this Continuing Nursing Education activity is 1.5 contact hours.
This activity is supported by educational grants from Chiesi USA, Inc., Takeda Pharmaceuticals USA, Inc., 4D Molecular Therapeutics, and Ultragenyx.
Disclosure of Conflicts of Interest:
PACE requires instructors, planners, managers, and other individuals who are in a position to control the content of this activity to disclose all financial relationships they may have with ineligible companies. All relevant financial relationships are thoroughly vetted and mitigated according to PACE policy. PACE is committed to providing learners with high-quality accredited CE activities and related materials that promote improvements or quality in healthcare and not a specific proprietary business interest of an ineligible company.