Acknowledgement: This course is supported by educational grants from Celera and the Applera Charitable Foundation.

This course provides an overview of 22q11 deletion syndrome (22q11DS), a genetic disorder caused by a partial deletion of a region on chromosome 22 that contains genes with vital roles in embryonic development. As a result, patients have many developmental defects including malformations of the heart and face as well as learning and psychiatric issues. Though patients are more commonly diagnosed early in life by specialists such as cardiologists, there is great clinical variability and primary care physicians may encounter mildly affected patients. Because the syndrome has a multitude of seemingly unrelated manifestations, it is important to be aware of the underlying genetic etiology linking all these defects as a proper diagnosis will determine how patients are managed and may reveal other affected family members.

NUMBER OF CREDIT HOURS: The Harvard Medical School designates this enduring material for a maximum of 1 AMA PRA Category 1 Credit™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

This course should take approximately 1 hours to complete.

COST: $20.00 for the average learner. Participants living in emerging nations receive a 50% discount or can register for free. See our International Pricing Page for details.

OVERALL LEARNING OBJECTIVES:

1. Recognize the main clinical findings and clinical variability in individuals with 22q11DS.
2. Understand the need for coordinated clinical care.
3. Understand the molecular basis of 22q11DS as well as diagnostic testing for the presence of the deletion.
4. Evaluate family histories for sporadic or familial inheritance to inform testing, management, and counseling of relatives.
5. Be familiar with the inheritance pattern of 22q11DS and the reproductive options available.

METHOD OF PARTICIPATION:

Registrants participate in the learning process by answering interactive multiple choice questions that are dispersed throughout the case presentation. You must answer a question correctly in order to continue through the course. If you answer a question incorrectly, you will be prompted to try again.

In order to earn credit, physicians must complete the entire educational activity before the termination date (see above). Non-physicians may register for the course but are not eligible for AMA PRA Category 1 Credits™. Instead, non-physicians will earn a certificate of participation after successfully completing the course before its termination date.

COMBINATION OF MEDIA USED:

This internet enduring material is a case-based, interactive presentation comprised mainly of text, interactive questions, and images. A variety of media, including video clips, audio clips, and Flash animation, may be presented. Links to any necessary plugins are provided when necessary, but no plugins are required for general use of the CME website, and you may skip the multimedia presentation(s) within the course if you choose.

back to the top

BIRGIT FUNKE, PhD, FACMG Course Director

Dr. Funke received her Ph.D. in molecular genetics from the University of Würzburg, Germany and trained as a postdoctoral fellow at the Albert Einstein College of Medicine in New York where she identified the gene for 22q11 deletion syndrome. She continued her research on 22q11DS at Harvard Medical School where she also trained in Clinical Molecular Genetics. Dr. Funke obtained her ABMG Board certification in 2007 and is now Director of Clinical Research and Development at the Laboratory for Molecular Medicine and Assistant Professor of Pathology at Harvard Medical School. She also oversees clinical genetic testing and sign-out for inherited cardiovascular disorders. DISCLOSURE: Reported no relevant financial relationships with commercial entities.

ERICA TWOROG-DUBE, MS Course Co-Director

Erica Tworog-Dube, MS, is a graduate of the Brandeis University Genetic Counseling program and is certified as a genetic counselor by the American Board of Genetic Counseling. She currently works at Partners Center for Personalized Genetic Medicine (PCPGM) in Boston, where she serves as study coordinator for clinical research protocols exploring genotype/phenotype correlations in Noonan syndrome and velocardiofacial syndrome. Prior to joining PCPGM, Ms. Tworog-Dube was a clinical pediatric genetic counselor at the National Birth Defects Center in Waltham, Massachusetts. DISCLOSURE: Reported no relevant financial relationships with commercial entities.

back to the top

CHRISTINE FINN, Reviewer

Dr. Christine Finn is an Attending psychiatrist at Dartmouth Hitchcock Medical Center in Lebanon NH, and a former faculty member of Massachusetts General Hospital, and a faculty member of the Harvard-Partners Center for Genetics and Genomics. Dr. Finn received her medical degree from Albert Einstein College of Medicine. She completed psychiatry residency at Massachusetts General and McLean Hospitals, where she was the Chief Resident of the Acute Psychiatry Service at MGH. In addition, she has completed fellowship training in clinical genetics at the Harvard Genetics Training Program. Dr. Finn has published several articles and book chapters on topics relating to psychiatric genetics. Her current research activities are focused on the genetic basis of psychiatric symptoms in velocardiofacial syndrome. She is actively involved in education efforts to increased genetic knowledge among psychiatrists. DISCLOSURE: Reported no relevant financial relationships with commercial entities

AMY E. ROBERTS, MD Reviewer

Amy Roberts received her MD from Dartmouth Medical School. She completed a residency in pediatrics at the University of Massachusetts and then a residency in clinical genetics at Harvard Medical School. She is now Assistant Professor in Medicine at Harvard Medical School and in the Department of Cardiology at Children’s Hospital Boston. She has focused her clinical practice on cardiovascular genetics and her research interests include Noonan syndrome and related disorders, cardiomyopathy, and the genetic causes of isolated heart disease. She is also involved in resident education as the Co-Director of the Harvard Medical School Medical Genetics Residency and Children’s Hospital Boston Pediatrics Residency combined training program and as the Co-Director of the Brigham and Women’s Hospital Maternal Fetal Medicine and Harvard Medical School Medical Genetics Residency Combined Training Program. DISCLOSURE: The commercial entities with which I have relationships do not produce health-care related products or services relevant to the content I am planning, developing or presenting for this activity.

back to the top

SANJIV CHOPRA, MD Planner

Dr. Sanjiv Chopra is Professor of Medicine and Faculty Dean for Continuing Medical Education at Harvard Medical School and Senior Consultant in Hepatology at the Beth Israel Deaconess Medical Center, Boston. In his role as Faculty Dean for Continuing Education, Dr. Chopra provides oversight and leadership of the Department and oversees the academic development of our programs. Dr. Chopra is an experienced clinician, researcher, and educator. In his research roles, he has served both as a principal investigator as well as co-investigator. He has more than 120 publications and five books to his credit, addressing topics in disease states, patient care, and leadership. Dr. Chopra’s teaching experience is extensive, and he has won numerous teaching awards for his work with medical students, residents and physicians. Currently, he directs and speaks at 10 multiday CME courses, nine of which are through HMS. For his full bio, please click here. DISCLOSURE: Reported no relevant financial relationships with commercial entities.

ERIN HARVEY, MSC, CGC Planner

Erin K. Harvey, MSc, CGC, was the Assistant Director of Education for Partners Healthcare Center for Personalized Genetic Medicine (PCPGM) from 2008 to 2011. She is a board-certified genetic counselor and has worked with a wide range of primary healthcare professionals in the development of genetics-related, case-based continuing medical education (CME). In addition to being the series editor for PCPGM’s genetics CMEs, she coordinated an advanced human genetics course for Harvard Medical School’s Clinical Genetics Residency training program. In 2011, she accepted a position with Genzyme as a Scientific Communications Principal for the Personalized Genetic Health division. Prior to joining PCPGM, Ms. Harvey spent five years with the National Coalition for Health Professional Education in Genetics, and was seconded for one year to the United Kingdom to help a similar organization there – the National Genetics Education and Development Centre – create genetics resources for the UK’s nationalized medical education curriculum. Ms. Harvey received her master’s degree in science in 2003 from the Johns Hopkins University/National Institutes of Health joint genetic counseling training program. She received a B.A. in English Writing from St. Edward’s University in Austin, Texas in 1993, and worked as a journalist prior to pursuing a career in the biological sciences. DISCLOSURE: Reported no relevant financial relationships with commercial entities

ANDI LONG, EDM Planner

Andi Long directs the Department of Continuing Education’s Distance Learning group, which offers a variety of online continuing medical education programs to health care professionals around the world. Andi develops strategies for new pilot programs and systematically rolls out new distance learning initiatives and has a leadership role in IT planning and other online processes for HMS DCE. She oversees the day-to-day operations of each distance learning activity and ensures ACCME compliance across all enduring programs. She has had the privilege of working with hundreds of Harvard Medical School Faculty members to develop high-quality, engaging online programs that physicians in more than 170 countries have taken part in. Andi earned her Ed.M. in Technology, Innovation, and Education from Harvard Graduate School of Education and graduated from Bridgewater State College, summa cum laude, with a degree in English. Her professional interests focus on teaching and learning with new technologies and online course development. DISCLOSURE: Reported no relevant financial relationships with commercial entities.

back to the top

NUMBER OF CREDITS: 1 

The Harvard Medical School is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.

The Harvard Medical School designates this enduring material for a maximum of 1 AMA PRA Category 1 Credit™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

This course should take approximately 1 hours to complete.

Within 2 weeks of completing the course, you will receive your certificate via email.

Click the image to view a sample of the certificate

back to the top