Global eye genetics consortium - Genetic studies in Pan-America

Date: October 21 , 2024
Time: 8:00-10:00 am
Place: Hilton Buenos Aires, Buenos Aires, Argentina

Session description
We invited three speakers from Argentina, Brazil, Chile to present thier work on the lastest eye genetic research in Latin America

Chairs/Moderators
Takeshi Iwata, NHO Tokyo Medical Center (Tokyo, Japan)
Gyan Prakash, National Eye Institute (Bethesda, MD, USA)

Speakers
1. Laura Echandi (Buenos Aires, Argentina)
IRDs situation in Argentina: Demographic perspective, genetic archetecture, national database, candidate patienrs participation in clinical trials and advanced therapies

2. Monica Barbosa de Melo (Campinas, Brazil)
Genetic profile of congenital and primary open angle glaucoma in Brazil.

3. Marcela Perez (Santiago, Chile)
Clinical and multi imaging chracterization of STGD cohort in Chile

4. Takeshi Iwata (Tokyo, Japan)
Global collaborative research for rare genetic eye diseases

5. Gyan Prakash (Bethesda, MD, USA)
Opertunities and challenges in global genetic eye research & how South America can participate

Date: September 15 , 2024
Place: Hotel Cinnamon Grand, Colombo, Sri Lanka
Session 3: GEGC - GENETICS
Organized by Gerard Schultz, USA and Dr. Natarajan, India

Date: August 16, 2024
Time: 8:00 - 9:00 am
Place: Vancouver Convention Center, Vancouber, Canada

Date: July 28 , 2024
Time: 2:00 - 3:30 pm
Place: Kigali Convention Center, Kigali, Rwanda

The Global Eye Genetics Consortium (GEGC) held a significant plenary session during the African Ophthalmological Council (AOC) annual meeting, aimed at advancing genetic research in eye diseases across the continent. The session brought together leading experts in ophthalmic genetics, public health, and clinical sciences from Africa and around the world to address the gaps in understanding and treating inherited eye conditions prevalent in African populations. The discussion focused on promoting collaborative research, capacity building, and the integration of genomic insights into clinical practice. Key topics included the potential for translational research, early diagnosis, therapeutic interventions, and the role of policy in improving genetic services. The plenary also highlighted the importance of fostering regional partnerships and leveraging international expertise to create sustainable solutions for eye health challenges in Africa.

RIIO website

Date: July 30, 2024
Time: 9:00 - 12:00
Place: RIIO, Kigali, Rwanda

Date: July 24 , 2024
Time: 10:00 - 1200 AM
Place: University of Cape Town, Cape Town, South Africa

A seminar was held on 24th July with a focus on the Current Challenges in Eye Genomics Research in Africa. It was attended by Dr John Prakash from the National Eye Institute, Dr Raj Ramesar from the University of Cape Town, Dr Musa Kana from the Kaduna State University, and several other members of the University of Cape Town. The meeting was also attended virtually by Dr Takeshi Iwata, Tokyo Medical Center, Prof S Natrajan, Aditya Jyot Eye Hospital, Dr Robert Geneau, KCCO, Cape Town, Dr Salil Lachke, University of Delaware, and Michael Cheetham, National Eye Institute.

The seminar began with Dr. Raj Ramesar & Dr. Lisa Roberts speaking about the Programs at University of Cape Town, and Interests in Eye Genomics ResearchThey provided an overview of the University of Cape Town's programs related to eye genomics. They highlighted their institution's commitment to advancing eye research, particularly in understanding genetic factors influencing eye diseases prevalent in South Africa. They discussed their key interests in collaboration and integrating genomic technologies to enhance clinical applications in ophthalmology.

Thereafter, Dr. Sophia Siddiqui, US Health Attaché in South Africa spoke about the “NIH Programs and Portfolio in South Africa”. She outlined the National Institutes of Health (NIH) initiatives in South Africa, focusing on partnerships in the health research sector. She detailed NIH's investments in capacity building, innovation, and collaborations with local institutions, particularly in genetics and ophthalmology, emphasizing their relevance in addressing public health challenges in the region.

Dr. Gyan "John" Prakash – NIH, National Eye Institute, informed everyone regarding the NEI’s International Programs and Opportunities with Global Eye Genetics Consortium through his talk. He spoke about the NIH National Eye Institute's (NEI) international programs, emphasizing the importance of global collaborations through the Global Eye Genetics Consortium (GEGC). He discussed opportunities for international researchers to engage with NEI and highlighted the potential for innovative genomics research to address eye diseases on a global scale.

Dr. Takeshi Iwata – Tokyo Medical Center, Japan also spoke on “Addressing Eye Genomics Research with Global Collaboration” shring insights from Japan’s work on eye genomics, and stressing the critical role of global collaboration in tackling complex eye diseases. He described ongoing efforts to develop gene-based therapies and the importance of cross-border sharing of data and resources to accelerate discoveries in ocular genetics.

Thereafter, Dr. Salil Lachke from the University of Delaware, USA talked about the Integrated Systems Tool for Eye Gene Discovery (iSyTE) an innovative tool, which uses systems biology approaches to identify genes linked to eye diseases. He explained how iSyTE has been instrumental in discovering new gene candidates and its utility for researchers across the globe to advance the understanding of eye conditions.

Dr. Musa Kana from the Nigerian Eye Center & Kaduna State University spoke about the Kaduna Pediatric Eye Study and NEI Collaboration, highlighting its focus on childhood eye disorders in Nigeria. He emphasized the role of NEI’s support in advancing the study and building research capacity. His talk illustrated how local research can benefit from international collaboration, ultimately improving pediatric eye care in underserved regions.

Dr. S. Natarajan from Aditya Jyot Eye Research Hospital, Mumbai, India, gave a talk on “Bringing Eye Genomics Research to the Broader Patient Care and Clinic”. He spoke about the application of eye genomics research in clinical practice, emphasizing the translation of genomic insights into better patient care. He shared examples of how personalized medicine, driven by genomics, is being integrated into ophthalmic clinics in India to treat a range of eye disorders.

Finally, a Panel Discussion & Mutual Learning, led by Moderators and Chairpersons ensued. It focused on mutual learning between global researchers, highlighting challenges and opportunities in eye genomics research. The panelists discussed strategies for strengthening international collaboration, the importance of capacity building, and how advancements in genomics can address disparities in eye care globally.

On 25th July a focussed discussion meeting was held between Dr Gyan ‘John’ Prakash, Dr Raj Ramesar and Dr Musa Kana. The purpose of this meeting was to discuss the establishment of an African group to conduct ophthalmic genetic research in Africa in collaboration with GEGC.

Action Points:

• Reach out to other African countries through the African Ophthalmology Council (AOC).

• Focus on existing successful activities and “low-hanging fruits.”

• Examine African research priorities, explore funding, and promote the translational potential of genomic research, especially for diagnostics and therapeutics.

• Develop applications for public health surveillance and genetic counseling training.

• Assess the medical genetics capacity and programs in Africa.

Stakeholder Involvement: Relevant stakeholders should include patient advocates, bioinformatics experts, clinicians, epidemiologists, and public health professionals. A mapping of these stakeholders is essential.

WHO Involvement: Further exploration is needed to define WHO’s specific role in the initiative.

Neglected Eye Disease Research in Africa: Genetic research on eye diseases in Africa has been overlooked. This initiative presents an opportunity to build global solidarity, bringing experts to Africa to share knowledge. A grant application for the Global Eye Genetics Consortium (GEGC) congress in Africa is planned, alongside detailed symposium planning focused on “Prevention of Blindness in Africa.”

Africa’s Role in Future Meetings: Plans will be made to ensure active participation of African countries in future meetings and collaborations. The Division of Human Genetics at the University of Cape Town (UCT), led by Professor Raj Ramesar, will coordinate the initiative. UCT has the necessary infrastructure and expertise in genetic research, especially in genomics of inherited eye diseases. The National Eye Institute (NEI) has an existing Memorandum of Understanding (MOU) with the Nigerian Eye Clinic (NEC), facilitated by Dr. Musa Kana in Nigeria.