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Neurofibromatoses: New Frontiers in NF1, NF2, and Schwannomatosis
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About this course

Neurofibromatoses: New Frontiers in NF1, NF2, and Schwannomatosis

Monday, July 20, 2020

3:30 pm – 5:00 pm ET


In this session, presenters will provide updates on new and major advances in the understanding and treatment of the neurofibromatoses (NF), including Neurofibromatosis type 1 (NF1), Neurofibromatosis type 2 (NF2) and schwannomatosis (SWN). The diagnostic criteria initially established by the NIH in 1987 (NF1, NF2) and 2005 (SWN) are currently being revised, and are expected to be published in the near future. Genetic testing has increased relevance due to some NF1 and NF2 genotype/phenotype correlations and the discovery of phenotypically similar conditions. New NF1 pediatric and adult practice resources published by ACMG, and include updated surveillance protocols and malignancy risk figures. Research and possible treatments for NF are also advancing.


Target Audience


All healthcare professionals interested in the diagnosis, management, treatment and prevention of genetic conditions and increasing their understanding of the genetic basis of common, chronic health problems affecting both children and adults will find the programming applicable to their practice.




  • The Evolving Clinical and Genetic Landscape in NF - Bruce R. Korf, MD, PhD, FACMG              
  • New Considerations in NF1 Surveillance - David Viskochil, MD, PhD, FACMG            
  • Natural History, Psychosocial Effects, and Treatment Options of Cutaneous Neurofibromas in NF1 - Ashley Cannon, PhD, MS
  • Malignancy in NF1 and the Role of Tumor Genomic Studies to Advance Treatments - David T. Miller, MD, PhD, FACMG
  • Promising Advances in NF1 and NF2 Treatments - Scott R. Plotkin, MD, PhD


Learning Objectives

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

  1. Differentiate the diagnosis of the three types of NF based on knowledge of clinical manifestations and molecular etiologies
  2. Describe the role of genetic testing in the NF diagnostic evaluation
  3. Develop an awareness of common clinical issues, appropriate surveillance, and treatment/management options in NF
  4. Incorporate personalized screening for individuals with NF1 at various ages of life
  5. Examine approaches utilized to conduct pre-clinical research and what clinicians can do to plan for the emergence of new NF therapies
  6. Discuss collaborative efforts in the NF field to define successful therapy endpoints and examples of clinical trials using such endpoints
  7. Recognize and address psychosocial needs and challenges of individuals with NF


Heather B. Radtke, MS

Genetic counselor, Medical College of Wisconsin and Children's Tumor Foundation


Bruce R. Korf, MD, PhD, FACMG

Chief Genomics Officer, University of Alabama Birmingham UAB

David Viskochil, MD, PhD, FACMG

Professor of Pediatrics, University of Utah

Ashley Cannon, PhD, MS

Assistant Professor, University of Alabama Birmingham UAB

David T. Miller, MD, PhD, FACMG    

Associate Professor of Pediatrics, Harvard Medical School

Director of the Multidisciplinary Neurofibromatosis (NF) Clinic and NF Research Initiative (NFRI), Boston Children’s Hospital

Scott R. Plotkin, MD, PhD     

Director, MGH/DFCI/BWH Neuro-Oncology Fellowship Program, Massachusetts General Hospital

Professor of Neurology, Harvard Medical School


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.


  • ACMG will follow the ACCME’s expectation that no employees or owners of commercial interests will be involved as planners/faculty/presenters of a CME accredited activity.
  • The ACCME definition of a commercial interest is any entity producing, marketing, re-selling, or distributing health care goods or services consumed by, or used on, patients.
  • The ACCME does not consider providers of clinical service directly to patients to be commercial interests - unless the provider of clinical service is owned, or controlled by, an ACCME-defined commercial interest.
  • Diagnostic laboratories are not considered commercial interests unless they are owned by or have a sister organization which is a commercial interest.


Bruce R. Korf, MD, PhD, FACMG

Dr. Korf has disclosed that he is a consultant/advisory board for Genome Medical; and a consultant for AstraZeneca, SprinWorks Therapeutics.


David Viskochil, MD, PhD, FACMG

Dr. Li has disclosed that he is a consultant/advisory board for Sanofi-Genzyme, Shire-Takeda; a consultant for Sanofi-Genzyme; and has external grant/research for Soleno Therapeutics, Shire-Takeda.


Ashley Cannon, PhD, MS

Has no relevant financial relationships to disclose.


David T. Miller, MD, PhD, FACMG    

Has no relevant financial relationships to disclose.


Scott R. Plotkin, MD, PhD     

Dr. Plotkin has disclosed that he is a consultant/advisory board for AstraZeneca; and has major stockholder/ownership interest in NFlection Therapeutics, NF2 Therapeutics.

Heather B. Radtke, MS

Has no relevant financial relationships to disclose.



Educational Credit


Accreditation Statement

The American College of Medical Genetics and Genomics is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.


Designation Statement

The American College of Medical Genetics and Genomics designates this enduring activity for a maximum of 1.5 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.


CE (Continuing Education for non-physicians): This activity has been approved for CE credits.
*The certificate is accepted by the ABMGG for certification.

Genetic Counselor Credit

The National Society of Genetic Counselors (NSGC) has authorized American College of Medical Genetics to offer up to 1.5 Category 1 contact hours for this activity. The American Board of Genetic Counseling (ABGC) will accept CEUs earned at this program for the purposes of genetic counselor certification and recertification.

ACMG will report completed accredited sessions to NSGC for credit certificates on December 4, 2020, December 3, 2021 and July 8, 2022. Submissions outside of these parameters may incur a processing fee of $35.


P.A.C.E.® CEUs- Laboratory Directors and Laboratory Personnel

ACMG is approved as a provider of continuing education programs in the clinical laboratory sciences by the American Society for Clinical Laboratory Science (ASCLS) Professional Acknowledgment for Continuing Education (P.A.C.E.®) Program. The American College of Medical Genetics and Genomics designates this OnDemand course for a maximum of 1.5 contact hours. ACMG is approved by the Florida Board of Clinical Laboratory Personnel as CE Provider #50-11878. This course is registered # 20-775394 with CEBroker.  ACMG is approved by the California Department of Health Services through the ASCLS P.A.C.E.®


Claiming your Educational Credits

Complete the activity and carefully complete the evaluation form. Deadline to claim educational credits is within 30 days from the date of the webinar. ACMG will not accept any credit request for live meetings after that period.


HIPAA Compliance

The ACMG supports medical information privacy.  While the ACMG is not a “covered entity” under HIPAA 1996 and therefore is not required to meet these standards, ACMG wishes to take reasonable steps to ensure that the presentation of individually identifiable health information at ACMG-sponsored events has been properly authorized.  All presenters have completed a form indicating whether they intend to present any form of individually identifiable healthcare information.  If so, they were asked either to attest that a HIPAA-compliant consent form is on file at their institution, or to send ACMG a copy of the ACMG HIPAA compliance form. This information is on record at the ACMG Administrative Office and will be made available on request.


Content Validation

ACMG follows the ACCME policy on Content Validation for CME activities, which requires:


Content Validation and Fair Balance

  1. ACMG follows the ACCME policy on Content Validation for CME activities, which requires:
  1. All recommendations involving clinical medicine must be based on evidence that is accepted within the profession of medicine as adequate justification for their indications and contraindications in the care of patients.
  2. All scientific research referred to, reported or used in CME in support or justification of patient care recommendations must conform to the generally accepted standards of experimental design, data collection and analysis.


  1. Activities that fall outside the definition of CME/CE; “Educational activities that serve to maintain, develop, or increase the knowledge, skills, and professional performance and relationships that a physician uses to provide services for patients, the public, or the profession” (source: ACCME and AMA) will not be certified for credit. CME activities that promote recommendations, treatment, or manners of practicing medicine or pharmacy that are not within the definition of CME/CE or, are known to have risks or dangers that outweigh the benefits or, are known to be ineffective in the treatment of patients.
  2. Presentations and CME/CE activity materials must give a balanced view of therapeutic options; use of generic names will contribute to this impartiality.  If the CME/CE educational materials or content includes trade names, where available, trade names from several companies must be used.


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.



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.

Availability: Retired
Cost: ACMG Member: $30.00
Non-Member: $55.00
Postdoc/Trainee (M): $30.00
Postdoc/Trainee (NM): $55.00
Student (M): $30.00
Student (NM): $55.00
Credit Offered: No Credit Offered
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