Genomic Research to Elucidate the Genetics of Rare Disease Traits: Early Lessons from the BCM-GREGoR Program

Credit Unavailable

This activity has been archived and credit is no longer available.

In this presentation, Dr. Jennifer Posey, M.D. Ph.D. discusses current progress in precision medicine within the context of the lessons learned from rare disease research conducted by her team in the Baylor College of Medicine-Genomics Research to Elucidate the Genetics of Rare diseases (GREGoR) Program.

This Precision Medicine Grand Rounds session took place on December 17, 2021 at 12:00 P.M.

Activity Information

This activity has been archived and credit is no longer available.

Needs Statement

Physicians, residents, fellows, scientists, and other health professionals in general practice specialties such as internal medicine, oncology, surgery, and pathology need to be updated about the practice and implementation of precision medicine initiatives to improve the delivery of targeted and individualized care. Health professionals should be aware of the ethical issues that arise in the practice of precision medicine. Testing for genetically influenced diseases can affect personalized management of individuals and their families.

Educational Objectives

At the conclusion of the session, the participants should be able to:

  • Utilize human phenotype ontology terms to annotate the clinical history of a case.
  • Explain how human phenotype ontology terms can be used to study rare disease traits.
  • Analyze existing Centers for Mendelian Genomics/GREGoR data to support local discovery and research.

Target Audience

Professional Categories

  • Physicians
  • Medical Students
  • Fellows
  • Nurses
  • Other Health Professionals

Specialties

  • Medical Genetics and Genomics

Interest Groups

  • Hospital Medicine
  • Primary Care

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 1.0 AMA PRA Category 1 Credit(s)™.  Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Activity Director

  1. Christopher Amos, Ph.D.

    Christopher Amos, Ph.D.

    Director for the Institute of Clinical and Translational Medicine
    Baylor College of Medicine

Term of Approval

December 1, 2021 through December 31, 2023. Original release date: December 1, 2021.

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

  1. Jennifer Ellen Posey, M.D., Ph.D.

    Jennifer Ellen Posey, M.D., Ph.D.

    Assistant Professor
    Baylor College of Medicine

    Disclosure:

    Nothing to disclose.

Activity Director

  1. Christopher Amos, Ph.D.

    Christopher Amos, Ph.D.

    Director for the Institute of Clinical and Translational Medicine
    Baylor College of Medicine

    Disclosure:

    Nothing to disclose.

Planning Committee Members

  1. Christopher Amos, Ph.D.

    Christopher Amos, Ph.D.

    Director for the Institute of Clinical and Translational Medicine
    Baylor College of Medicine

    Disclosure:

    Nothing to disclose.

  2. Ashok Balasubramanyam, M.D.

    Ashok Balasubramanyam, M.D.

    Professor
    Baylor College of Medicine

    Disclosure:
    • Consultancy: Catalys Pacific
    • Intellectual Property: UpToDate® (Wolters Kluwer Health)
  3. Richard A. Gibbs, Ph.D.

    Richard A. Gibbs, Ph.D.

    Wofford Cain Chair and Professor, Director of the Baylor College of Medicine Human Genome Sequencing Center
    Baylor College of Medicine

    Disclosure:

    Nothing to disclose.

  4. Rowland Pettit, Ph.D.

    Rowland Pettit, Ph.D.

    Medical Scientist Training Program (MD/PhD)
    Baylor College of Medicine

    Disclosure:

    Nothing to disclose.

  5. Cheryl L. Walker, Ph.D.

    Cheryl L. Walker, Ph.D.

    Professor
    Baylor College of Medicine

    Disclosure:

    Nothing to disclose.

Presenter:

Jennifer Ellen Posey, M.D., Ph.D.

Jennifer Ellen Posey, M.D., Ph.D.

Assistant Professor Baylor College of Medicine

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