The Research Program of Julia E. Richards, Ph.D.

Dr. Julia Richards, PhD.
Dr. Julia E. Richards, Ph.D.

The research program of Dr. Julia Richards, Ph.D. focuses on the underlying causes of hereditary eye disease and the normal processes of ocular aging. Her research has a long-term emphasis on the group of diseases classified as glaucoma, one of the leading causes of irreversible blindness in the United States. Several recent breakthroughs in gene mapping and identification of disease genes, disease risk factors, and risk factors associated with endophenotypes, have resulted from her collaborations with glaucoma specialists Paul R. Lichter, MD, Sayoko Moroi, MD, PhD, and Joshua Stein, MD, MS, and biostatistical geneticists Michael Boehnke, PhD, and Jun Li, PhD, and researchers at other institutions including Stanford, University of Oklahoma, Harvard and Duke University. More recently she has expanded her international collaborations through interaction with the International Glaucoma Genetics Consortium. She contributed three of the twelve populations in the ten-center NEIGHBOR genome-wide association study (GWAS) that has led to breakthroughs in identification of common SNPs associated with open-angle glaucoma its endophenotypes as well as novel pathways associated with glaucoma.

Her work on characterizing specific glaucoma genes and their role in glaucoma and related phenomena is paralleled by efforts to better understand the clinical characteristics associated with particular genes and mutations. Studies at the level of genes, cells, animals and people all assist in our efforts to sort through the underlying causes of the hereditary glaucomas and evaluate the relationships between the glaucomas and a variety of abnormal developmental processes, both ocular and non-ocular. Linkage analysis, genome wide association studies, whole exome sequencing, expression profiling all contribute to our search for the underlying causes of inherited eye disease.


A representative list of publications and presentations produced by Dr. Richards and her staff and collaborators are listed below. For an exhaustive listing, please see 🗐 Dr. Richards' complete bibliography.

Selected Pubications

  • Li Z, Allingham RR, Nakano M, Jia L, Chen Y, Ikeda Y, Mani B, Chen LJ, Kee C, Garway-Heath DF, Sripriya S, Fuse N, Abu-Amero KK, Huang C, Namburi P, Burdon K, Perera SA, Gharahkhani P, Lin Y, Ueno M, Ozaki M, Mizoguchi T, Krishnadas SR, Osman EA, Lee MC, Chan AS, Tajudin LS, Do T, Goncalves A, Reynier P, Zhang H, Bourne R, Goh D, Broadway D, Husain R, Negi AK, Su DH, Ho CL, Blanco AA, Leung CK, Wong TT, Yakub A, Liu Y, Nongpiur ME, Han JC, Hon do N, Shantha B, Zhao B, Sang J, Zhang N, Sato R, Yoshii K, Panda-Jonas S, Ashley Koch AE, Herndon LW, Moroi SE, Challa P, Foo JN, Bei JX, Zeng YX, Simmons CP, Bich Chau TN, Sharmila PF, Chew M, Lim B, Tam PO, Chua E, Ng XY, Yong VH, Chong YF, Meah WY, Vijayan S, Seongsoo S, Xu W, Teo YY, Cooke Bailey JN, Kang JH, Haines JL, Cheng CY, Saw SM, Tai ES; ICAARE-Glaucoma Consortium; NEIGHBORHOOD Consortium, Richards JE,, Ritch R, Gaasterland DE, Pasquale LR, Liu J, Jonas JB, Milea D, George R, Al-Obeidan SA, Mori K, Macgregor S, Hewitt AW, Girkin CA, Zhang M, Sundaresan P, Vijaya L, Mackey DA, Wong TY, Craig JE, Sun X, Kinoshita S, Wiggs JL, Khor CC, Yang Z, Pang CP, Wang N, Hauser MA, Tashiro K, Aung T, Vithana EN. A common variant near TGFBR3 is associated with primary open angle glaucoma. Hum Mol Genet. 2015 Jul 1;24(13):3880-92
  • Lin HC, Stein JD, Nan B, Childers D, Newman-Casey PA, Thompson DA5, Richards JE. Association of Geroprotective Effects of Metformin and Risk of Open-Angle Glaucoma in Persons With Diabetes Mellitus. JAMA Ophthalmol. 2015 May 28. doi: 10.1001/jamaophthalmol.2015.1440. [Epub ahead of print]
  • Argento A, Kim W, Rozsa FW, DeBolt KL, Zikanova S, Richards JE. Shear Behavior of Bovine Scleral Tissue. Journal of Biomechanical Engineering-Transactions of the Asme. Jul 2014;136(7). PMID: 24805965.
  • Bailey JN, Yaspan BL, Pasquale LR, Hauser MA, Kang JH, Loomis SJ, Brilliant M, Budenz DL, Christen WG, Fingert J, Gaasterland D, Gaasterland T, Kraft P, Lee RK, Lichter PR, Liu Y, McCarty CA, Moroi SE, Richards JE, Realini T, Schuman JS, Scott WK, Singh K, Sit AJ, Vollrath D, Wollstein G, Zack DJ, Zhang K, Pericak-Vance MA, Allingham RR, Weinreb RN, Haines JL, Wiggs JL. Hypothesis-independent pathway analysis implicates GABA and Acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma. Hum Genet. 2014 Oct;133(10):1319-30.
  • Garnai SJ, Huyghe JR, Reed DM, Scott KM, Liebmann JM, Boehnke M, Richards JE, Ritch R, Pawar H. Congenital cataracts: de novo gene conversion event in CRYBB2. Molecular Vision 2014; 20:1579-1593
  • Hysi PG, Cheng CY, Springelkamp H, Macgregor S, Bailey JN, Wojciechowski R, Vitart V, Nag A, Hewitt AW, Höhn R, Venturini C, Mirshahi A, Ramdas WD, Thorleifsson G, Vithana E, Khor CC, Stefansson AB, Liao J, Haines JL, Amin N, Wang YX, Wild PS, Ozel AB, Li JZ, Fleck BW, Zeller T, Staffieri SE, Teo YY, Cuellar-Partida G, Luo X, Allingham RR, Richards JE, Senft A, Karssen LC, Zheng Y, Bellenguez C, Xu L, Iglesias AI, Wilson JF, Kang JH, van Leeuwen EM, Jonsson V, Thorsteinsdottir U, Despriet DD, Ennis S, Moroi SE, Martin NG, Jansonius NM, Yazar S, Tai ES, Amouyel P, Kirwan J, van Koolwijk LM, Hauser MA, Jonasson F, Leo P, Loomis SJ, Fogarty R, Rivadeneira F, Kearns L, Lackner KJ, de Jong PT, Simpson CL, Pennell CE, Oostra BA, Uitterlinden AG, Saw SM, Lotery AJ, Bailey-Wilson JE, Hofman A, Vingerling JR, Maubaret C, Pfeiffer N, Wolfs RC, Lemij HG, Young TL, Pasquale LR, Delcourt C, Spector TD, Klaver CC, Small KS, Burdon KP, Stefansson K, Wong TY; BMES GWAS Group; NEIGHBORHOOD Consortium; Wellcome Trust Case Control Consortium 2, Viswanathan A, Mackey DA, Craig JE, Wiggs JL, van Duijn CM, Hammond CJ, Aung T. Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma. Nat Genet. 2014 Aug 31. PMID: 25173106
  • Kang JH, Loomis SJ, Yaspan BL, Bailey JC, Weinreb RN, Lee RK, Lichter PR, Budenz DL, Liu Y, Realini T, Gaasterland D, Gaasterland T, Friedman DS, McCarty CA, Moroi SE, Olson L, Schuman JS, Singh K, Vollrath D, Wollstein G, Zack DJ, Brilliant M, Sit AJ, Christen WG, Fingert J, Forman JP, Buys ES, Kraft P, Zhang K, Allingham RR, Pericak-Vance MA, Richards JE, Hauser MA, Haines JL, Wiggs JL, Pasquale LR. Vascular Tone Pathway Polymorphisms in Relation to Primary Open Angle Glaucoma. Eye (London, England). 2014 Jun; 28(6):662-71. PMCID: PMC4058608
  • Liu Y, Garrett ME, Yaspan BL, Cooke Bailey JN, Loomis SJ, Brilliant M, Budenz DL, Christen WG, Fingert J, Gaasterland D, Gaasterland T, Kang JH, Lee RK, Lichter PR, Moroi SE, Realini T, Richards J, Schuman JS, Scott WK, Singh K, Sit AJ, Vollrath D, Weinreb RN, Wollstein G, Zack DJ, Zhang K, Pericak-Vance M, Haines JL, Pasquale LR, Wiggs JL, Allingham RR, Ashley-Koch A, Hauser MA. DNA Copy Number Variants of Known Glaucoma Genes in Relation to Primary Open-Angle Glaucoma. Invest Ophthalmol Vis Sci. 2014 Nov 20;55(12):8251-8.
  • Loomis SJ, Kang JH, Weinreb RN, Yaspan BL, Cooke Bailey JN, Gaasterland D, Gaasterland T, Lee RK, Lichter PR, Budenz DL, Liu Y, Realini T, Friedman DS, McCarty CA, Moroi SE, Olson L, Schuman JS, Singh K, Vollrath D, Wollstein G, Zack DJ, Brilliant M, Sit AJ, Christen WG, Fingert J, Kraft P, Zhang K, Allingham RR, Pericak-Vance MA, Richards JE, Hauser MA, Haines JL, Pasquale LR, Wiggs JL. Association of CAV1/CAV2 genomic variants with primary open angle glaucoma overall and by gender and pattern of visual field loss. Ophthalmology. 2014 Feb;121(2):508-16. PMCID: PMC3937766
  • Ozel AB, Moroi SE, Reed DM, Nika M, Schmidt CM, Akbari S, Scott K, Rozsa F, Pawar H, Musch DC, Lichter PR, Gaasterland D, Branham K, Gilbert J, Garnai SJ, Chen W, Othman M, Heckenlively J, Swaroop A, Abecasis G, Friedman DS, Zack D, Ashley-Koch A, Ulmer M, Kang JH; NEIGHBOR Consortium, Liu Y, Yaspan BL, Haines J, Allingham RR, Hauser MA, Pasquale L, Wiggs J, Richards JE, Li JZ. Genome-wide association study and meta-analysis of intraocular pressure. Hum Genet. 2014 Jan;133(1):41-57. PMID: 24002674


Current Lab Members

Marissa at Dr. Julia Richards lab
Marissa Cloutier, Graduate Research Assistant

Past Lab Members

Past Administration




Sample pedigree constructed by Madeline 2.0 PDE software

Madeline is a pedigree visualization software program written by Ed Trager. The program exists in two versions. Madeline version 2.0 is the new and currently-maintained version based on a modern C++ code base. Madeline version 0.936 and predecessors are based on a much older legacy code base written primarily in ANSI C. The two versions have different feature sets and thus both are available for download. Most people will prefer to use the newer 2.0 version.

Madeline v. 2.0 Pedigree Drawing Engine

Madeline v. 2.0 Pedigree Drawing Engine (PDE) is a pedigree drawing program designed primarily for use in linkage and family-based association studies, but may be used in many other contexts where pedigree visualization is required. The program is designed to handle large and complex pedigree structures with an emphasis on readability and aesthetics. For complex pedigrees, we use a hybrid algorithm in which consanguinous loops are drawn as cyclic graphs whenever possible, but we resort to acyclic graphs when matings can no longer be connected without line crossings. A similar hybrid approach is used to avoid line crossings for matings between distant descendants of different founding groups. Written in object-oriented C++ and released under the GNU General Public License (GPL), Madeline 2.0 PDE reads input files specified on the command line and generates pedigree drawings without user interaction. Pedigree output in scalable vector graphics (SVG) format can be viewed in modern web browsers with native SVG rendering support; and viewed and edited in modern vector graphics editing software such as Inkscape or Adobe Illustrator.

Madeline v. 0.935, 0.936 and predecessors

Madeline v. 0.936 —and preceding versions— is a program written by Ed Trager for preparing, visualizing, and exploring human pedigree data used in genetic linkage studies. Madeline converts pedigree and marker data into formats required by popular linkage analysis packages, provides powerful ways to query pedigree data sets, and produces Postscript pedigree drawings that are useful for rapid data review. Madeline is released under the GNU General Public License (GPL).

Tutorials and documentation

Links to external resources

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