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The Center for Translational Vision Research Distinguished Speaker Series, also known as "Friday Seminars" showcases innovative research across the world. The seminar series has now been expanded to include lectures by experts on topics ranging from Ophthalmology, Genetics, Biochemistry, Neurobiology, Imaging, Computational Sciences to Novel Ophthalmic Treatments.
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His interests are focused on the identification of genes, mutations in which cause a variety of retinal diseases and finding treatments for these diseases. He is an authority on the ATP binding cassette (ABC) transporter superfamily and genetics of eye diseases.
He was trained as a molecular biologist and his early work was in human genome and cancer genetics, where he generated several methods of genomic library construction and gene cloning, which were used to clone and characterize hundreds of genes, including >30 genes in the ATP-binding cassette (ABC) transporter superfamily. He determined that some of these, e.g., ABCB7, ABCG5, ABCG2, etc., were genes involved in various human inherited diseases. His most well-known discovery was ABCA4, a gene responsible for Stargardt disease and the first gene associated with age-related macular degeneration (AMD).
Since then, the focus of Prof. Allikmets’ research has been genetics of simple and complex retinal diseases, including AMD, where he and his colleagues determined a major disease pathway, involving two regulators of the alternative complement cascade, complement factor H (CFH) and factor B (CFB). His laboratory also discovered the first gene, CDH5, involved in another complex disease, Central Serous Chorioretinopathy (CSC). He is also leading the team of genetics researchers assembled by the Lowy Medical Research Institute to identify causal genes and genetic risk factors for MacTel. This research has recently led to the discoveries of three causal genes for MacTel, SPTLC1, SPTLC2 and PHGDH, responsible for a significant fraction of the disease.
The list of early-onset, Mendelian retinal disorders for which genes were discovered in Prof. Allikmets’ laboratory, include cone-rod dystrophy (RAB28), retinitis pigmentosa (RDH11, CWC27), Best disease (BEST1), and dominant Stargardt-like macular dystrophy (ELOVL4). Most recently, his laboratory has focused on complex inheritance of Mendelian diseases on the example of Stargardt/ ABCA4 disease, including non-coding variation, hypomorphs and cis- and trans-modifiers. This knowledge is applied to state-of-the-art diagnostic applications, disease progression estimates, and determination of specific therapeutic approaches for Stargardt and related diseases. Finally, Prof. Allikmets uses these advances to advise many clinical trials.