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Adjunct Investigator

Genetic Disease Research Branch

Investigator and Chief

B.S. University of Maryland, College Park, 1989

M.D., Ph.D. University of Pennsylvania, 1997


Dr. Brooks studies a potentially blinding congenital malformation of the eye called uveal coloboma. The condition is caused by failure of the optic fissure to close during the fifth week of human gestation. Although the embryology leading to coloboma has been well-characterized for decades, less is known about the genetic and developmental processes responsible for this condition, making genetic counseling and molecular diagnosis difficult.

The Brooks laboratory integrates clinical and genetic data from uveal coloboma patients with molecular, developmental, and biochemical studies of normal and faulty optic fissure closure in model systems. The ultimate goal of the research is to apply knowledge from clinical and laboratory studies to molecular diagnosis in families with coloboma and to devise prevention and treatment strategies. Dr. Brooks applies Mendelian and complex genetics approaches to studying uveal coloboma in patients. His laboratory has identified a unique syndrome in which abnormal vertebral segmentation cosegregates with coloboma in an autosomal dominant fashion. He is leading efforts to define the clinical phenotypes of coloboma patients and their first-degree relatives. Through careful phenotyping with state-of-the art clinical tools, the Brooks laboratory is identifying potential clinical risk factors and microforms of coloboma.

Using a combination of laser-capture microdissection and gene expression analysis, Dr. Brooks has identified 221 genes that are differentially regulated at the closing edges of the optic fissure before, during, and after closure. He has discovered that two genes - Nlz1 and Nlz2 - are important in regulating closure via a Pax2-dependent mechanism; he is currently exploring how these genes interact with other transcriptional regulators of Pax2 during development. He is also studying the role these genes play in human disease and non-ocular phenotypes associated with disruption of either of these genes, and the developmental role of other differentially-related genes, including cell-signaling and cell-adhesion molecules.


Chang L, Blain D, Bertuzzi S, Brooks BP. Uveal coloboma: clinical and basic science update. Current Opinions in Ophthalmology, 17::447-70. 2006. [PubMed]

Blain D and Brooks BP. Molecular testing and genetic counseling in ophthalmology. Archives of Ophthalmology, 125:196-203. 2007. [PubMed]

Brooks BP, Larson DM, Chan CC, Kjellstron S, Smith RS, Crawford MA, Lamoreux L, Huizing M, Hess R, Jiao X, Hejtmancik FJ, Maminishkis A, John SWM, Bush R, Pavan WJ. Analysis of ocular hypopigmentation in Rab38cht/cht mice. Inv Ophthal Vis Sci, 48:3905-13. 2007. [PubMed]

Alur RR, Cox TA, Crawford MA, Gong X, Brooks BP. Optic nerve axon number in mouse is regulated by Pax2 in mouse. J-AAPOS, 12:117-21. 2008. [PubMed]

Asai-Coakwell M, French CR, Ye M, Garcha K, Bigot K, Perera AG, Staehling-Hampton K, Mema SC, Chanda B, Mushegian A, Bamforth S, Doschak MR, Li G, Dobbs MB, Giampietro PF, Brooks BP, Vijayalakshmi P, Sauvé Y, Abitbol M, Sundaresan P, van Heyningen V, Pourquié O, Underhill TM, Waskiewicz AJ, Lehmann OJ. Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes. Hum Mol Genet, 15;18(6):1110-21. 2009. [PubMed]

Brown JD, Duuta S, Bharti K, Bonner RF, Munson PJ, Dawid IB, Akhtar AL, Onojafe IF, Alur RP, Gross JM, Hejtmancik JF, Jiao X, Chan WY, Brooks BP. Expression profiling during ocular development identifies two Nlz genes with a critical role in optic fissure closure. Proc National Acad Sci, USA, 3;106(5):1462-7. 2009. [PubMed]

Salchow DJ, Kohlhase J, Miller M, Kadon N, FitzGibbon EJ, Caruso RC, Brooks BP. Absent optic chiasm presenting with horizontal nystagmus. JPOS, 47:187-91. 2010. [PubMed]

Alur RP, Camasamudram V, Brown JD, Onojafe IF, Sergeev YV, Jones M, Tang K, Lu H, Zia C, Gong X, Brooks BP. Papillorenal syndome-causing missense mutations in PAX2/Pax2 result in hypomorphic allelels in mouse and human. PloS Genetics, 6(3):e1000870. 2010. [PubMed]

Nichols L, Alur RP, Boobalan E, Caruso RC, Stone EM, Swaroop A, Johnson MA, Brooks BP. Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL. Human Mutation, 31:E1472-83. 2010. [PubMed]

Alur RP, Camasamudram V, Brown JD, Mehtani M, Onojafe IF, Sergeev YV, Boobalan E, Jone MP, Tang K, Liu H, Chun-hong X, Gong X, Brooks BP. Papillorenal syndrome-causing missense mutations in PAX2/Pax2 result in hypomorphic alleles in mouse and human. PloS Genet, 6(3):e1000870. 2010. [PubMed]

Brooks BP, Thompson AH, Clayton JA, Chan CC, Tamura D, Zein WM, Blain D, Hadsall C, Rowan J, Bowles KE, Khan SG, Ueda T, Bowle J, Oh KS, DiGiovanna JJ, Kraemer KH. Ocular manifestations of trichothiodystrophy. Ophthalmology, 118:2335-42. 2011. [PubMed]

Onojafe IF, Adams DR, Simeonov DR, Zhang J, Chan CC, Bernardini IM, Sergeev YV, Dolinska MB, Alur RP, Brilliant MH, Gahl WA, Brooks BP. Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism. J Clin Invest, 121: 3914-23. 2011. [PubMed]

Brooks BP, Thompson AH, Bishop RJ, Clayton JA, Chan CC, Tsilou E, Zein WM, Tamura D, Khan SG, Ueda T, Boyle J, Oh K-S, Imoto K, Inui H, Moriwaki S-I, Emmert S, Iliff NT, Bradford P, DiGiovanna JJ, Kraemer KH. Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damage. Ophthalmology, 120:1324-36. 2013. [PubMed]

Huynh N, Blain D, Glaser T, Doss L, Zein WM, Lang DM, Baker EH, Hill S, Brewer CC, Kopp JB, Bardakjian TM, Maumenee IH, Bateman BJ, Brooks BP. Systemic diagnostic testing in patients with apparently isolated uveal coloboma. Am J Ophthalmol, 156:1159-68. 2013. [PubMed]

Dolinska MB, Kovaleva E, Backlund P, Wingfield PT, Brooks BP*, Sergeev YV*. Albinism-causing mutations in recombinant human tyrosinase alter intrinsic enzyme activity. PLoS ONE. Jan2;9(1):e84494. 2014. [PubMed] *Co-corresponding, co-senior authors.

Babcock HE, Dutta S, Alur RP, Brocker C, Vasiliou V, Vitale S, Abu-Asab M, Brooks BP. Aldh7a1 regulates eye and limb development in zebrafish. PLoS ONE, 9:e101782. 2014. [PubMed]

Johnston JJ, Lewis KL, Ng D, Singh LN, Wnter J, Brewer C, Brooks BP, Brownell I, Candotti F, Gonsalves SG, Hart SP, Kong HH, Rother KI, Sokolic R, Solomon BD, Zein WM, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG. Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations. Am J Hum Genet. 96:913-25. 2015. [PubMed]

Dutta S, Sriskanda S, Boobalan E, Alur RP, Elkalhoun A, Brooks BP. Nlz1 is required for cilia formation in zebrafish embryogenesis. Dev Biol, 406:203-211. 2015. [PubMed]

Last updated: October 31, 2010