By Marin Gantner, PhD, Lowy Medical Research Institute
The Lowy Medical Research Institute (LMRI) is a non-profit research organization that studies macular telangietasia type 2 (MacTel). MacTel is a rare inherited retinal degenerative disease that affects central vision. For the past year, LMRI has been studying a connection between HSAN1 and MacTel. This link was discovered through an individual who enrolled in the MacTel registry and was later diagnosed with HSAN1.
Thanks in large part to the outreach efforts of the Deater Foundation, LMRI has made connections to members of the HSAN1 community. This has enabled researchers affiliated with LMRI to do comprehensive ophthalmological exams, genetic sequencing and metabolomics research on HSAN1 patients. We are also studying the link between HSAN1 and MacTel. As LMRI is a global research organization, we have extended our studies to HSAN1 patients in Australia and London, as well. Our ability to connect with HSAN1 patients has been instrumental to advancing MacTel research. We hope that our work is also raising awareness of eye health in the HSAN1 community and encouraging individuals to receive ophthalmological exams. LMRI continues to recruit HSAN1 patients to participate in the MacTel Project, a research project that includes eye exams and blood tests for genetics and metabolomics. None of this work would have been possible without the participation of patients. We hope that our research will lead to potential treatments for both diseases