Research Faculty

Dept of Ophthalmology
Eye Research Annex Rm 202
160 Ft Washington Ave
New York, NY 10

Phone: 212-305-8989
Fax: 212-305-7014
Education and Training
Ph.D. 1988 Institute of Bioorganic Chemistry, Moscow

Integrated Program
MD-PhD Program
Vision Sciences

Rando Allikmets, Ph.D.
Acquavella Professor, Departments of Ophthalmology and Pathology & Cell Biology
Research Director, Harkness Eye Institute
Research Summary

The Laboratory of Molecular Genetics implements a three-step translational, "from bench to bedside", program consisting of: 1) discovering the genetic cause of retinal disease, 2) developing advanced methods for molecular diagnostics and, 3) finding efficient treatment options for precisely diagnosed patients.

The first step in discovering the underlying mechanisms of any disorder is the cloning and characterization of the relevant gene(s) and determining the mutation spectrum causative for each individual phenotype. This goal is achieved by a combination of classical genetic methods from linkage analysis to association studies of candidate genes on large collections of patient DNA with semi-automated, high-throughput mutation detection and genotyping technologies. Some genes/loci discovered in the laboratory include the gene responsible for Stargardt disease and cone-rod dystrophy, ABCA4 (ABCR), and susceptibility loci for age-related macular degeneration containing genes involved in complement response, factor H (CFH), factor B (CFB), and complement component 2 (C2).

Microarray-based diagnostic screening technologies developed in the laboratory in collaboration with Asper Biotech, Tartu, Estonia, include "gene chips", where all known variants from a single gene, i.e., ABCA4, are arrayed on the chip, and "disease chips", where all variants from all genes responsible for a phenotype, such as LCA and RP, are included on one array.

Therapeutic approaches include lentiviral gene therapy for Stargardt macular dystrophy and other retinal diseases and modulating the visual cycle by small molecule compounds. In summary, the laboratory provides comprehensive gene discovery, diagnostic and treatment programs for many eye diseases.

Research Areas

Genetic studies of Mendelian and complex eye diseases (Stargardt macular dystrophy, age-related macular generation, etc.) - development of microarray-based diagnostic applications for eye diseases - gene- and small molecule-based therapeutic approaches for retinal disorders.


Associate Research Scientist:
Mihai Busuioc, MA, OD, MD
Huicong Cai, MD, PhD
Jian Kong, MD
Joanna Merriam, MD, PhD

Postdoctoral Research Fellow:
Kalev Noupuu, MD

Staff Associate:
Jana Zernant, MS

Graduate Student:
Yajing (Angela) Xie, MS

Carolyn Cai, BA

Clinical Research Coordinator:
Winston Lee, MA

Divisional Administrator:
Kara Bauer

Grants Manager:
Ana Garcia

Selected Publications

1. Allikmets, R., Singh, N., Sun, H., Shroyer, N.F., Hutchinson, A., Chidambaram, A., Gerrard, B., Baird, L., Stauffer, D., Peiffer, A., Rattner, A., Smallwood, P., Li, Y., Anderson, K.L., Lewis, R.A., Nathans, J., Leppert, M., Dean, M., and Lupski, J.R.: A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nature Genetics 15: 236-246, 1997.

2. Allikmets, R., Shroyer, N.F., Singh, N., Seddon, J.M., Lewis, R.A., Bernstein, P., Peiffer A., Zabriskie, N., Li, Y., Hutchinson, A., Dean, M., Lupski, J.R., and Leppert, M.: Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science 277: 1805-1807, 1997.

3. Allikmets, R. and the International ABCR Screening Consortium: Further evidence of an association of ABCR alleles with age-related macular degeneration. Am. J. Hum. Genet. 67: 487-491, 2000.

4. Zhang, K., Kniazeva, M., Han, M., Li, W., Yu, Z., Yang, Z., Li, Y., Metzker, M.L., Allikmets, R., Zack, D.J., Kakuk, L.E., Lagali, P.S., Wong, P.S., MacDonald, I.M., Sieving, P.A., Figueroa, D., Austin, C.P., Gould, R.J., Ayyagari, R., and Petrukhin, K. A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. Nature Genetics 27: 89-93, 2001.

5. Jaakson, K., Zernant, J., Kulm, M., Hutchinson, A., Tonisson, N, Hawlina, M., Ravnic-Glavac, M., Glavac, D., Meltzer, M., Caruso, R., Testa, F., Maugeri, A., Hoyng, C.B., Gouras, P., Simonelli, F., Lewis, R.A. Lupski, J.R., Cremers, F.P.M., and Allikmets, R. Genotyping microarray (gene chip) for the ABCR (ABCA4) gene. Human Mutation 22:395-403, 2003.

6. Hageman, G.S., Anderson, D.H., Johnson, L.V., Hancox, L.S., Taiber, A.J., Hardisty, L.I., Hageman, J.L., Stockman, H.A., Borchardt, J.D., Gehrs, K.M., Smith, R.J., Silvestri, G., Russell, S.R., Klaver, C.C.W., Barbazetto, I., Chang, S., Yannuzzi, L.A., Barile, G.R., Merriam, J.C., Smith, R.T., Olsh, A.K., Bergeron, J., Zernant, J., Merriam, J.E., Gold, B., Dean, M. and Allikmets R. A common haplotype in the complement regulatory gene, factor H (HF1/CFH), predisposes individuals to age-related macular degeneration. Proc. Natl. Acad. Sci. USA 102:7227-7232, 2005.

7. Zernant, J., Kulm, M., Dharmaraj, S., den Hollander, A.I., Perrault, I., Preising, M.N., Lorenz, B., Kaplan, J., Cremers, F.P.M., Maumenee, I., Koenekoop, R.K., and Allikmets, R. Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles. Invest. Ophthalmol. Vis. Sci. 46:3052-3059, 2005.

8. Maiti, P., Kong, J., Kim, S.R., Sparrow, J.R., Allikmets, R., and Rando, R.R. Small Molecule RPE65 Antagonists Limit the Visual Cycle and Prevent Lipofuscin Formation. Biochemistry, 45:852-860, 2006.

9. Gold, B., Merriam, J.E., Zernant, J., Hancox, L.S., Taiber, A.J., Gehrs, K.M., Cramer, K., Neel, J., Bergeron, J., Barile, G.R., Smith, R.T., the AMD Genetics Clinical Study Group, Hageman, G.S., Dean, M. and Allikmets R. Variation in the Factor B (BF) and Complement Component 2 (C2) Genes in the MHC Class III Locus is Associated with Age-related Macular Degeneration. Nature Genetics 38:458-642, 2006.

10. Kong, J., Kim, S.-R., Binley, K., Pata, I., Doi, K., Mannik, J., Zernant-Rajang, J., Kan, O., Iqball, S., Naylor, S., Sparrow, J.R., Gouras, P., and Allikmets R. Correction of the disease phenotype in the mouse model of Stargardt disease by lentiviral gene therapy. Gene Therapy 15:1311-20, 2008.

11. Allikmets, R. and Dean, M. Bringing age-related macular degeneration into focus. Nature Genetics 40: 820-821, 2008.

12. Allikmets, R., Bergen, A.A., Dean, M., Guymer, R.H., Hageman, G.S., Klaver, C.C., Stefansson, K., Weber, B.H., and International Age-related Macular Degeneration Genetics Consortium. Geographic atrophy in age-related macular degeneration and TLR3. N. Engl. J. Med. 360:2252-4, 2009.

13. Allikmets, R., Dean, M., Hageman, G.S., Baird, P.N., Klaver, C.C., Bergen, A.A., Weber, B.H. and the International AMD Genetics Consortium. The SERPING1 gene and age-related macular degeneration. Lancet 374:875-876, 2009.

14. Zernant J, Schubert C, Im KM, Burke T, Brown CM, Fishman GA, Tsang SH, Gouras P, Dean M, and Allikmets R. Analysis of the ABCA4 gene by next-generation sequencing. Invest Ophthalmol Vis Sci. 52:8479-8487, 2011.

15. Fritsche LG, … Allikmets R… Abecasis GR, and the AMD Gene Consortium. Seven new loci associated with age-related macular degeneration. Nature Genetics 45:433-439, 2013.

Honors and Awards

SAIC Science Achievement Award

SAIC 1997 Publication Prize for Biochemistry and Molecular Biology

Foundation Fighting Blindness Annual Trustees Award

Awarded the title of "Godfather", Association DMLA (AMD), Paris, France

Alcon Research Institute Award

Mette Warburg Lecture, the Kennedy Center, University of Copenhagen, Denmark

The Visionary Award, Foundation Fighting Blindness

Dario Lorenzetti Lecture, McGill University, Montreal, Canada

American Academy of Ophthalmology Achievement Award

Committees , Council, and Professional Society Memberships

1994–present American Association for the Advancement of Science
1996–present The Human Genome Organization
1998–present The Association for Research in Vision and Ophthalmology
2001–present The American Society of Human Genetics
2002–present Founding Member, International Cytogenetics and Genome Society
2004–present Honorary Member, Italian Society of Genetic Ophthalmology

Contact the Pathology Webmaster at