Genomic Case Conference Featuring the 2020 Digital Edition of Cardinal Signs of Common and Uncommon Disorders (PLOD3-related Disorders, CHOPS Syndrome, and Primrose Syndrome)
Date of Release: December 22, 2020
Estimate time of completion: 1 hour
Educational Credits are not offered
www.acmgeducation.net
Session Description
Despite increasing use of next generation molecular analysis, there continues to be a role for clinical evaluation as a part of the patient assessment process. Not every disorder has been molecularly characterized, nor does next generation sequencing always identify the causal variant(s). As a result, is still a role for discussion of clinical manifestations and cardinal signs of conditions potentially encountered in the clinic. It has also become apparent over time that conditions initially considered to be rare are much more common than previously thought. The purpose of this session is to provide information on the natural history, differential diagnoses, and cause (if known) of selected disorders.
Agenda
Target Audience
Learning Objectives
At the conclusion of the series, participants should be able to:
Session Learning Objectives
At the conclusion of this session, participants should be able to:
Presenters
Paul Hillman, MD, PhD
Assistant Professor Department of Pediatrics, University of Texas
Kosuke Izumi, MD, PhD *not present for this webinar
Clinical Geneticis, Children's Hospital of Philadelphia CHOPS
Ian Krantz, MD, FACMG
Professor of Pediatrics and Medical Genetics
Children's Hospital of Philadelphia CHOPS
Danita Velasco, MD
Assistant Professor Pediatrics and Munroe-Meyer Institute, University of Nebraska Medical Center
Financial Disclosures
Disclosure Statement
It is the policy of the American College of Medical Genetics and Genomics to plan and implement all of its educational activities in accordance with the ACCME Essentials and Areas and ACCME® Policies to ensure balance, independence, objectivity and scientific rigor. In accordance with the ACCME® Standards for Commercial Support, everyone (speakers, moderators, committee members and staff) who is in a position to control the content of an educational activity certified for AMA PRA Category 1 Credit™ is required to disclose all financial relationships with any commercial interests (see definition below) within the past 12 months that creates a real or apparent conflict of interest. Disclosure must include financial relationships of the individual and those of their spouse/partner. Individuals who do not disclose will be disqualified from participating in a CME activity.
This disclosure pertains to relationships with ACCME-defined commercial interests whose products or services may be related to the subject matter of the presentation topic. Any real or apparent conflicts of interest related to the content of the presentations must be managed prior to the educational activity. ACMG will identify, review and resolve all conflicts of interests prior to an educational activity being delivered to learners.
NOTE:
Staff - American College of Medical Genetics and Genomics
The following have nothing to disclose.
Jane Radford, MHA, CHCP
Claudia Barnett
Maximilian Muenke, MD, FACMG
The following presenters have nothing to disclose:
Kosuke Izumi, MD, PhD
HIPAA Compliance
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Content Validation
ACMG follows the ACCME policy on Content Validation for CME activities, which requires:
Content Validation and Fair Balance
Off-label Uses of Products
When an off-label use of a product, or an investigational use not yet approved for any purpose, is discussed during an educational activity, the accredited sponsor shall require the speaker to disclose that the product is not labeled for the use under discussion, or that the product is still investigational. Discussions of such uses shall focus on those uses that have been subject of objective investigation.
Disclaimer
The ACMG does not endorse, or recommend the use of this educational program to make patient diagnoses, particular by individuals not trained in medical genetics. Adherence to the information provided in these programs does not necessarily ensure a successful diagnostic outcome. The program should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed at obtaining the same results. In determining the propriety of any specific procedure or test, a healthcare provider should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen.
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