James Friedman, Ph.D.
James earned a B.Sc. (Hon.) in Genetics and a Ph.D. in Medical Sciences-Ophthalmology from the University of Alberta in Edmonton, Canada.
James’ interest in identifying immediate downstream targets of NRL and understanding the effects of mutations on NRL function, brought him to the N-NRL in June of 2002.
James is currently studying the genetics of two mouse models of retinal degeneration (rd3 and rd11) and one family affected with autosomal dominant retinitis pigmentosa.
Friedman JS, Ray JW, Waseem N, Johnson K, Brooks MJ, Hugosson T, Breuer D, Branham KE, Krauth DS, Bowne SJ, Sullivan LS, Ponjavic V, Grnse L, Khanna R, Trager EH, Gieser LM, Hughbanks-Wheaton D, Cojocaru RI, Ghiasvand NM, Chakarova CF, Abrahamson M, Gring HH, Webster AR, Birch DG, Abecasis GR, Fann Y, Bhattacharya SS, Daiger SP, Heckenlively JR, Andrasson S, Swaroop A. Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. Am J Hum Genet. 2009 Jun;84(6):792-800. PMID: 19520207