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Genetics: Macular Degeneration

Course Description | Faculty | Accreditation | General Information

Course Description

Age-related macular degeneration (AMD) affects more than 10 million Americans alone and is the leading cause of blindness world wide. This online activity reviews risk factors for AMD, including some Mendelian forms of the disease, and discusses available genetic testing options and the clinical implications of genetic test results.

Original Release: 5/16/2011
Most Recent Update: 5/16/2011
Termination Date: 6/30/2012

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: COST: $25.00

At the conclusion of this case study participants should be able to:

  1. Understand the visual consequences of macular degeneration and the inheritance of different forms of the disease.
  2. Identify individuals who have Mendelian forms of the disease, and the genes that are responsible for these conditions.
  3. Learn the risk factors for age-related macular degeneration, including genetic and environmental risk factors.


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.


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.

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Course Director
Janey L. Wiggs, M.D., Ph.D. is a physician scientist at the Massachusetts Eye and Ear Infirmary (MEEI) and Harvard Medical School (HMS). She currently holds the appointment of Associate Professor of Ophthalmology at Harvard Medical School and is the Associate Chief for Clinical Research in Ophthalmology at the Massachusetts Eye and Ear Infirmary. Dr. Wiggs received her B.A. and Ph.D. degrees in biochemistry from the University of California at Berkeley and her M.D. degree from Harvard Medical School. She did post-doctoral training in molecular genetics at the Massachusetts Eye and Ear Infirmary under the direction of Dr. Ted Dryja. She also completed an ophthalmology residency at the Massachusetts Eye and Ear Infirmary and fellowship training in glaucoma and in medical genetics and is board certified in both Ophthalmology and Medical Genetics. Dr. Wiggs’ research program is focused on the discovery and characterization of genetic factors that contribute to the blinding eye disease glaucoma and is funded by the National Eye Institute (NEI) as well as other nonprofit foundations. She is the co-chair of the US-INDO joint working group (NEI), chair of the PhenX ocular working group (NHGRI) and is a member of the NEI eyeGENE consortium. Dr. Wiggs currently serves on the editorial boards of Investigative Ophthalmology and Visual Science (IOVS), Archives of Ophthalmology (Section Editor from Molecular Genetics), Molecular Vision, and the Journal of Glaucoma. She is a member of the scientific advisory board for the Glaucoma Research Foundation and is a past member of the National Advisory Council of the National Eye Institute.

Mass Eye & Ear, Genetic counseling Children's Hospital, Genetic counseling

Course Contributor
Dr. DeAngelis is currently the Director of the Ocular Molecular Genetics Institute and an Assistant Professor at Harvard Medical School in the Department of Ophthalmology. Dr. DeAngelis focused her career on vision research in 1999 when she received a post-doctoral training grant on macular degeneration as part of the Molecular Basis of Eye Disease program at Harvard Medical School. Working in collaboration with outstanding retina specialists, Dr. Ivana Kim and Dr. Joan Miller, Dr. DeAngelis recruited a patient population of families to study the genetic and epidemiologic underpinnings of age-related macular degeneration (AMD), the leading cause of visual disability in developed countries. As a result Dr. DeAngelis is a Principal Investigator on a competitive renewal from the National Eye Institute to study the molecular genetics of AMD. Dr. DeAngelis has been recognized for excellence in the field of AMD research from other funding agencies including the Lincy Award, Milton Award, Massachusetts Lion’s Award and the Thome Foundation Memorial Award. Dr. DeAngelis is well published in this area and her goal is to extend and expand current studies by elucidating key regulatory components in pathways or sets of genes which are implicated in AMD so that appropriate preventive and therapeutic targets can be developed. To that end, her group has employed a systems based biology approach using state of the art technologies which led to the identification of a novel anti-angiogenic AMD associated gene. The gene known as RORA appears to be a protective agent against the development of neovascular AMD in 3 diverse patient populations. Moreover, RORA was shown by her group to interact with other known AMD genetic risk factors thus furthering the development of a unifying hypothesis underlying AMD pathophysiology and hopefully leading to cures for this devastating form of blindness. The success of this work is the result of building strong collaborations between scientists an

Reported no relevant financial relationships with commercial entities.

Course Contributor
Dr. Ivana Kim is a graduate of Harvard Medical School and completed her ophthalmology residency and vitreoretinal fellowship at Mass Eye and Ear. She is currently an Assistant Professor of Ophthalmology at Harvard Medical School and a member of the full-time staff of the Mass Eye and Ear Retina Service. She maintains a busy clinical practice including surgical and medical retina, with a focus on age-related macular degeneration and uveal melanoma. She serves as principal investigator for several multi-center as well as investigator-sponsored clinical trials. Dr. Kim collaborates with Drs. Margaret DeAngelis and Joan Miller in a genetic study of age-related macular degeneration involving extremely discordant sibling pairs. They have collected genetic and epidemiologic data on these sibpairs to study gene-environment interactions, perform candidate gene analyses, and analyze gene expression profiles with the goals of further elucidating the etiology of neovascular AMD and identifying potential biomarkers of the disease. In addition to studying the genetics of AMD, Dr. Kim also has an ongoing collaboration with Dr. Levi Garraway at the Dana-Farber Cancer Institute to search for oncogenic mutations in uveal melanoma using a high-throughput mass-spectrometry based PCR platform. By defining specific molecular aberrations involved in the malignant transformation of these tumors, they hope to identify particular pathways that could serve as targets for adjunctive chemotherapy.

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.

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Dr. Sanjiv Chopra is Professor of Medicine at Harvard Medical School. He is also the the James Tullis Firm Chief in the Department of Medicine and a Senior Consultant in Hepatology at the Beth Israel Deaconess Medical Center, Boston. He served as Faculty Dean for Continuing Education at HMS for 12 years. Dr. Chopra has more than 150 publications and seven books to his credit. Dr. Chopra is Editor-in-Chief of the Hepatology Section of UpToDate, the most widely used electronic textbook in the world subscribed to by more than 850,000 physicians in 149 countries. He is also the recipient of numerous awards and accolades. For a complete bio, click here.

Reported no relevant financial relationships with commercial entities.

Bio and Photo Coming Soon.

Company: Sequenom, licensee of Univ of Pittsburgh patent – listed inventor, Variants in the 10q26 locus related to risk of AMD

Anneke I. den Hollander is an associate professor at the Department of Ophthalmology of the Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands, where she studies the molecular basis of inherited blindness. Her research interests focus on monogenic forms of retinal degeneration, in particular Leber congenital amaurosis and autosomal recessive retinitis pigmentosa, and more recently have shifted towards multifactorial eye diseases such as age-related macular degeneration. She received her PhD at the Department of Human Genetics in Nijmegen, the Netherlands, and performed fellowships at the Telethon Institute for Genetics and Medicine (TIGEM) in Naples, Italy, and at the Massachusetts Eye and Ear Infirmary in Boston.

Reported no relevant financial relationships with commercial entities.

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Course Planners
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.

Reported no relevant financial relationships with commercial entities

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 with a degree in English. Her professional interests focus on teaching and learning with new technologies and online course development.

Reported no relevant financial relationships with commercial entities

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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

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General Information


Any computer running Windows, Mac OS, or Unix machines are supported.

Internet Connection
Your computer should be configured to access the Internet. A high speed internet connection may be required to view some of the large multimedia files.

Firefox or Internet Explorer 5.5 or higher are recommended. JavaScript and cookies must be enabled.

Some of the multimedia resources in this course require Apple Quicktime, RealMedia, or a Flash player. You will be prompted to download the appropriate plugin when necessary. 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.


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