Latest News
OGSC 2023 Hybrid Meeting - Program Available
View the latest Program for OGSC 2023 via this quick Program Link
Are you eligible for our $75 Discount Voucher Code?
If you are a Student, Fellow or practice in one of the United Nations Least Developed Countries then you can apply for a $75 Voucher Code.
Simply ask your supervisor to document your location, trainee or student status to Elias at TRABOUE@ccf.org
Ophthalmic Genetics Study Club (OGSC)
Hybrid Meeting – Friday, November 3rd, 2023
Dear Colleagues
Please join us for another fabulous OGSC hybrid meeting before the AAO meeting in San Francisco!
Ophthalmic Genetics Study Club (OGSC)
The meeting is in Gallery 1
Hyatt Regency San Francisco Downtown SOMA
Hybrid Meeting – Friday, November 3, 2023
7:00 am to 5:00 pm
Hyatt Regency San Francisco Downtown Soma
The registration fee will be slightly higher than previous years because of the associated expenses with securing an assigned venue through AAO, we have to charge a registration fee to cover expenses. The fees are:
In-Person: $150.00
Virtual: $75.00
‘In Person’ registration fees will includes a Brunch and Coffee breaks.
The Yearly Distinguished Special Lecture will be given by Dr. Arif Khan from
Cleveland Clinic Abu Dhabi. The title of his presentation will be:
“Inherited eye disease: lessons I have learned on the Arabian Peninsula”
São Paulo Webinars available NOW
International Council of Ophthalmology Invitation to World Ophthalmology Congress (WOC2024)
International Council of Ophthalmology
Invitation to World Ophthalmology Congress (WOC2024)
Fellowship in Ocular Genetics University of Rochester Flaum Eye Institute
Fellowship in Ocular Genetics:
University of Rochester Flaum Eye Institute
Fellowship in Ocular Genetics: University of Rochester Flaum Eye Institute
This Flaum Eye Institute Ocular Genetics Fellowship offers TWO (2) one-year funded positions.
The Director of the Fellowship Program is Dr. Alex V. Levin, Chief, Pediatric Ophthalmology and Ocular Genetics at the Flaum Eye Institute and Chief, Clinical Genetics at the University of Rochester Medical Center.
This sub-specialty fellowship will include active, full-time participation in all aspects of Ocular Genetics. The Fellows will work closely with Dr. Levin and our other ocular geneticist and ocular oncologist, Dr. Vikas Khetan, our 2 ocular genetic counselors and our residents, and the Pediatric Ophthalmology Fellow. We are very busy and see an enormous range of pathology in both adults and children, which includes inherited retinal degenerations, congenital ocular malformations, genetic syndromes, and metabolic diseases that affect the eye.
The year will include rotations in pediatric genetics, craniofacial, and metabolics clinics at Golisano Children’s Hospital as well as participation with Drs. Levin/Khetan and the clinical geneticists in inpatient consultations. The fellow will participate in multidisciplinary clinical genetics case rounds, ocular genetics team meetings, and ocular genetics journal clubs. Laboratory experience is provided where the fellow will have exposure to DNA extraction, karyotyping, microarray analysis, sequencing and other molecular techniques.
The Fellow will have the opportunity to participate in the full range of additional didactic and other educational activities at the Flaum Eye Institute and Golisano Children’s Hospital, including two ocular genetics course taught remotely to LV Prasad Eye Institute (India), resident lecture series, Dr. Edwin Stone‘s retinal dystrophy rounds, grand rounds, and didactic resident teaching. The Fellowship includes support to attend one external genetics conference. The Fellow is also expected to be involved with teaching medical students and residents who rotate through the Ocular Genetics service.
Research is an important part of the ocular genetics fellowship and opportunities range from bench laboratory to clinical research. Prospective studies involving new diagnostic tools and therapies are always ongoing. We are an approved site for Luxturna delivery and are involved in several gene therapy trials as well as work in stem cell and gene agnostic treatments. Ocular Genetics Fellows are expected to write and submit at least two manuscripts and are encouraged to submit their research to local/national/international ophthalmology/ocular genetics meetings.
As part of the Ocular Genetics team, the Fellow’s responsibilities include administrative and other supportive duties.
Requirements:
Candidates must have completed their general ophthalmology training or be senior house officers. Candidates ineligible for a license will be welcomed as observers with much clinical exposure and involvement under supervision, and receive full credit for the fellowship year. USMLE is not required.
If you are interested in our Ocular Genetics Fellowship Program, please complete and return the following:
A maximum one-page personal statement as to why you want to do this fellowship and what you plan to do with the training once finished. Preference is given to applicants who have future plans as an ocular geneticist and a position in advance to do so. If you have such a position, please also send a letter confirming this from your future Chair/Employer.
Photocopy of your certificate of registration/medical license.
Current curriculum vitae
Photograph of yourself (not required)
If you have previously published papers (not required), a copy of the 1-2 publications you are most proud of
Three letters of recommendation. The recommendation letters must also be sent as hard copy on original letterhead with original signature.
All documents should be sent electronically to Dr. Levin at least 6 months prior to the desired start date.
Only completed applications will be considered for interviews (offered by phone/zoom if not available to attend in person). Formal language testing is not required.
For more information, please contact:
Alex V. Levin, MD, MHSc, FAAP, FAAO, FRCSC
Adeline Lutz – Steven S.T. Ching, M.D. Distinguished Professorship in Ophthalmology
Chief, Pediatric Ophthalmology and Ocular Genetics
Flaum Eye Institute
Chief, Clinical Genetics
University of Rochester Medical Center
601 Elmwood Avenue, Box 659
Rochester, NY 14642
Phone 585-276-3560 Fax 585-276-2517 alex_levin@urmc.rochester.edu
NIH – National Eye Institute: Postdoctoral Fellowship in Genetics and Modeling of Developmental Eye Diseases
NIH – National Eye Institute:
Postdoctoral Fellowship in Genetics and Modeling of Developmental Eye Diseases
Postdoctoral Fellowship in Genetics and Modeling of Developmental Eye Diseases
A postdoctoral position is available immediately in the Pediatric, Developmental & Genetic Ophthalmology Section (https://www.nei.nih.gov/PDGO section) of the Ophthalmic Genetics and Visual Function Branch, NEI, National Institutes of Health (NIH), located in Bethesda, Maryland. The laboratory, headed by Dr. Brian Brooks, seeks to understand the genetic, molecular and developmental basis of inherited eye diseases such as uveal coloboma and oculocutaneous albinism that affect children. We focus on the molecular and cellular basis of optic fissure closure and retinal pigment epithelium (RPE) development with the aim to develop novel therapeutic approaches for these conditions.
This position offers exposure to multidisciplinary and cutting-edge developmental and stem cell research, and opportunities to collaborate closely with experts in genetics and translational research. The candidate will be leading/co-leading projects, designing experiments for investigating in vitro and in vivo models of disease, testing gene replacement and CRISPR-based gene editing approaches while working closely with collaborators and lab members. Opportunities for training in animal microsurgery as well as mentoring postbacs or summer students will be available based on interest.
Qualifications:
• Candidates must hold a Ph.D. or M.D./Ph.D. in cell biology, genetics, neuroscience, development or a related field, with less than 4 years since completion of their final degree;
• Must have first authorship on at least one peer-reviewed publication;
• Must be self-motivated and keen to develop and/or learn cutting-edge technologies;
• Experience in stem cell manipulation and/or mouse and/or zebrafish genetics is a plus;
• The ability to work as part of a cohesive group is important as we are a highly collaborative lab;
• Must have excellent writing and communication skills.
• Salary will be commensurate with education and experience. The position provides generous scientific resources, stipend support, and health benefits. U.S. citizens, U.S. permanent residents, and non-U.S. citizens are eligible to apply. Women and underrepresented minorities are particularly encouraged to apply.
To Apply:
Interested candidates should send an email with cover letter, curriculum vitae, bibliography, a paragraph of research goals and interests and contact information of three references to: Dr. Uma Neelathi (uma.neelathi@nih.gov).
For further information about working at the NIH, visit: https://jobs.nih.gov
The NIH is dedicated to building a diverse community in its training and employment programs. DHHS, NIH, and NEI are Equal Opportunity Employers.
ISGEDR Meeting 2023 - SÃO PAULO, July 6-8, 2023
ISGEDR Meeting – Genetic Counselors:
ISGEDR Meeting 2023 – Genetic Counselors
IMPORTANT NOTE:
We have just added to the Registration Categories and Fees the category ‘Genetic Counselors’
to view the Fees please CLICK HERE
ISGEDR Meeting – São Paulo, Brazil 2023
ISGEDR Meeting 2023 – SÃO PAULO, July 6-8, 2023
It is the distinct pleasure of the International Society for Genetic Eye Diseases and Retinoblastoma to invite you all to São Paulo for the ISGEDR 2023 MEETING
For the first time in South America, our biannual meeting will take place from July 6th to 8th, 2023 in cosmopolitan São Paulo, Brazil, at CUBO, Latin America’s biggest innovation, health tech startups and entrepreneurship hub.
Considering the success of the hybrid format of the 2021 ISGEDR meeting in Lausanne, the organizing and executive committees chose the same format for 2023.
We are delighted to announce the following named Lectureship presenters:
Michael Gorin, MD, PhD – The Franceschetti Lecturer
Professor David Cobrinik, MD, PhD – The Ellsworth Lecturer
Professor Frans Cremers, MD, PhD – The François Lecturer
Together with expert international speakers who will participate in the meeting, the attendees will have the chance to interact with clinicians and scientists who have whose research and/or clinical practice center on the diagnosis and management of patients with ophthalmic genetic disorders and retinoblastoma.
Please join us!
Juliana M Ferraz Sallum, MD, PhD President – ISGEDR MEETING 2023
São Paulo, Brazil 2023 – Link to Meeting Registration
StoneRounds - web-based Inherited Retinal Diseases resource
StoneRounds:
web-based Inherited Retinal Diseases resource
StoneRounds is a web-based resource (www.stonerounds.org) for improving your knowledge of inherited retinal diseases.
It consists of an atlas of over 300 molecularly-confirmed cases, a “clinic simulator” in which you can pit your diagnostic skills against the computer (and get constructive feedback if you are wrong), some basic tutorials for beginners, and even a section of career advice for physicians and scientists (Success Camp). The case content of StoneRounds also serves as the basis for live, Zoom-based clinical teaching sessions that anyone with an interest in inherited retinal disease is welcome to attend. These teaching sessions are 60-90 minutes in length and are held an average of 4 times per month.
The schedule for the live sessions can be found at: https://stonerounds.org/teaching/schedule. If you create a (free) account on the website you can choose to be reminded about upcoming sessions by email.
CALL FOR PAPERS – Inherited Retinal Disease and Gene Therapy
CALL FOR PAPERS:
Inherited Retinal Disease and Gene Therapy
NIH K12 Vision Scientist Program Inherited Retinal Degeneration Fellowship
NIH K12 Vision Scientist Program:
Inherited Retinal Degeneration Fellowship
NIH K12 Vision Scientist Program. Inherited Retinal Degeneration Fellowship.
University of Pennsylvania
Department of Ophthalmology, Scheie Eye Institute
This fellowship is open only to US residents or citizens. Senior residents or subspecialty fellows who are finishing their training in June 2024 and available to start the fellowship in July or early August 2024 can apply. Ophthalmologists who are already in clinical practice are also eligible. This fellowship will have a focus on translational clinical-research and clinical exposure to the diagnosis and management of genetic eye diseases at the Retinal Degeneration Centers of the Scheie Eye Institute and The Children’s Hospital of Philadelphia.
The fellowship can be supported by a K12 grant from the NIH/NEI. The candidate will be assessed by the K12 Program of the Dept. of Ophthalmology of the University of Pennsylvania. Acceptance will depend on availability of a slot and the candidates’ qualifications. The recipient will receive a salary and benefits at a PGY5 level of training. The fellow must be eligible for a full Pennsylvania license to practice medicine. K12 Scholars are permitted to spend up to 25% of their effort in patient care. The other 75% is for research that could involve seeing research patients or doing bench research.
Interested physicians who chose to forgo involvement in direct patient care can still apply to the K12 program directly for a retinal degeneration research fellowship without a deadline. Similarly, this is a competitive fellowship position that depends on the availability of a position through the K12 program and on the qualifications of the candidate.
Please contact Dr. Tomas S. Aleman directly for additional information at aleman@pennmedicine.upenn.edu.
ISGEDR and the Scientific Community at Large Mourn the Loss of Dr Samuel Jacobson
ISGEDR and the Scientific Community at
Large Mourn the Loss of Dr Samuel Jacobson
Samuel G. Jacobson, MD, PhD, William C. Frayer Professor of Ophthalmology, served as director of the Center for Hereditary Retinal Degenerations, which he established at Scheie Eye Institute in 1995. Dr. Jacobson, in his 40+ year career in science and medicine, distinguished himself as a caring and compassionate physician, and a world-class scientist. He entered the field of inherited retinal diseases when clinical specialists were rare, there was little medical or scientific interest in genetic blindness, and there were no treatments. Over decades, he advanced understanding of the molecular mechanisms of these disorders. He was a pioneer in the application of gene-based and mechanism-driven therapies for diseases previously considered as incurable. During his tenure, he trained many clinicians currently working in the field of retinal degenerations, and he has been the recipient of major awards in visual science. He is survived by his wife, Jean, daughter, Maxine, and brother, Fruman (Marian). Funeral services will be private. The family requests in lieu of flowers, donations be sent to the Eugenia R. Jacobson and Max M. Jacobson, M.D. Memorial Fund at the University of Illinois Foundation (visit give.uic.edu – Fund Number 12772236), or to the charity of your choice.
Cole Eye Institute – Genetics Fellowship
Cole Eye Institute:
Genetics Fellowship
Cole Eye Institute – Eye Genetics Fellowship
The Cole Eye Institute At Cleveland Clinic Is Pleased To Offer A One-Year Fellowship In Ophthalmic Genetics Starting In July 2023.
This one-time fellowship is open to senior residents who are finishing their training in June 2023 and available to start the fellowship in July/August 2023, and to other ophthalmologists who are completing fellowships in any ophthalmology subspecialty such as pediatric ophthalmology, medical and/or surgical retina, glaucoma, or neuro-ophthalmology. Ophthalmologists who are already in clinical practice are also eligible. The fellowship is supported by a grant from the American College of Medical Genetics and the recipient will receive a salary at the PGY5 level of training as well as other benefits identical to those of all other fellows at the Cleveland Clinic. The fellow must be eligible for a full Ohio license to practice medicine. Please contact Dr. Traboulsi directly for additional information at traboue@ccf.org . This unique fellowship experience has been planned to provide the candidate with an immersive, competency-directed curriculum and clinical experience so she/he is ready to take care of patients with genetically determined eye diseases and integrate this practice in academic institutions.
New for Ophthalmic Genetics and online NOW on Taylor & Francis Online
New for Ophthalmic Genetics and online:
NOW on Taylor & Francis Online
Case Report
Phenotypic expansion of KCNJ13-associated snowflake vitreoretinal degeneration
Noy Ashkenazy, Jesse D. Sengillo, Prashanth G. Iyer, Catherin I. Negron, Nicolas A. Yannuzzi & Audina M. Berrocal
Pages: 1-4 | DOI: 10.1080/13816810.2022.2149816
Isolated aniridia caused by a novel PAX6 heterozygous deletion mediated by multi-exon complex rearrangement
Aramis B. Torrefranca, Suzanne Marie Carmona, Alvina Pauline D. Santiago, Eva Cutiongco-Dela Paz & Michelle D. Lingao
Pages: 1-4 | DOI: 10.1080/13816810.2022.2144904
Acute intraoperative subgaleal hematoma associated with vitreoretinal surgery in a patient with Ehlers-Danlos Syndrome Type VI
Marissa M. Patel, Thomas A. Lazzarini, Joshua H. Uhr, Catherin I. Negron & Audina M. Berrocal
Pages: 1-2 | DOI: 10.1080/13816810.2022.2098988
Dual phenotype: co-occurring Leber congenital amaurosis and familial exudative vitreoretinopathy: a case report
Virginia Miraldi Utz, Jared J. Ebert, Diana S. Brightman, Brittany N. Simpson, Stefanie Benoit & Robert A. Sisk
Pages: 1-4 | DOI: 10.1080/13816810.2022.2090011
Retinopathy and optic atrophy in a case of COQ2-related primary coenzyme Q10 deficiency
Jeannette Y. Stallworth, David R. Blair, Anne Slavotinek, Anthony T. Moore, Jacque L. Duncan & Alejandra G. de Alba Campomanes
Pages: 1-5 | DOI: 10.1080/13816810.2022.2141792
Research Report
Effects of duration and number of symptoms on vision-related anxiety in patients with Inherited Retinal Diseases
Lilia T. Popova, Rebhi O. Abuzaitoun, Maria Fernanda Abalem, Chris A. Andrews, Alison M. Mondul, Gabrielle D. Lacy, David C. Musch & K. Thiran Jayasundera
Pages: 1-8 | DOI: 10.1080/13816810.2022.2144901
Next ISGEDR Meeting in São Paulo, Brazil – CUBO Save the date: July 6-8th, 2023
Next ISGEDR Meeting in São Paulo, Brazil – CUBO:
Save the date: July 6-8th, 2023
Next ISGEDR Meeting in São Paulo, Brazil – CUBO – Save the date: July 6-8th, 2023
Ophthalmic Genetics – FREE Subscription
The Journal is the official publication of ISGEDR and the OGSC. Members of ISGEDR receive a free subscription to the Journal and have access to all back issues.
Click here to visit the home page of Ophthalmic Genetics on the Informa Publisher website
