Positions
- Chair
-
Molecular and Human Genetics
草榴社区入口
- Robert and Janice McNair Endowed Chair and Professor
-
Molecular and Human Genetics
草榴社区入口
Houston, TX US
- Member
-
Development, Disease Models & Therapeutics Graduate Program
草榴社区入口
- Member
-
Genetics and Genomics Graduate Program
草榴社区入口
- Director
-
Center for Skeletal Medicine and Biology
草榴社区入口
- Director
-
Skeletal Dysplasia Clinic
Texas Children's Hospital
- Associate Director
-
Medical Research Pathway
草榴社区入口
- Co-Director
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Rolanette and Berdon Lawrence Bone Disease Program of Texas
草榴社区入口
- Member
-
Dan L Duncan Comprehensive Cancer Center
草榴社区入口
Houston, Texas United States
- Professor
-
Molecular and Human Genetics
草榴社区入口
Addresses
- Skeletal Dysplasia Center (Clinic)
-
Texas Children's Clinical Care Center
6701 Fannin St., 16th Floor
Houston, TX 77030
United States
Phone: (832) 822-4298
Education
- BS from City University Of New York, Brooklyn College
- 06/1986 - Brooklyn, NY United States
- PhD from State University Of New York Downstate Medical Center
- 06/1990 - Brooklyn, NY United States
- MD from State University Of New York Downstate Medical Center
- 06/1993 - Brooklyn, NY United States
- Residency at Baylor College Of Medicine
- 06/1995 - Houston, TX United States
- Pediatrics
- Clinical Fellowship at Baylor College Of Medicine
- 06/1997 - Houston, TX United States
- Clinical Genetics
- Clinical Fellowship at 草榴社区入口
- 06/1998 - Houston, Texas United States
- Clinical Biochemical Genetics
- Post-Doctoral Fellowship at Mount Sinai School of Medicine
- 01/1991 - New York, New York United States
Certifications
- Clinical Biochemical Genetics
- American Board of Medical Genetics
- Clinical Genetics
- American Board of Medical Genetics
- General Pediatrics
- American Board of Pediatrics
Honors & Awards
- William F. Neuman Award for Outstanding Scientific, Training, Research, and Administrative Contributions
- 2022
- American Society for Bone and Mineral Research
- Curt Stern Award for Outstanding Scientific Achievement
- 2016
- American Society for Human Genetics
- Fellow AAAS
- 2014
- American Association for the Advancement of Science
- National Academy of Medicine
- 2013
- Investigator
- Howard Hughes Medical Institute (10/2002 - 10/2014)
- Association of American Physicians
- 2010
- E. Mead Johnson Award for 鈥淥utstanding Scientific Achievement in Pediatrics鈥
- 2009
- American Society for Clinical Investigation
- 2008
- Edith and Peter O'Donnell Award in Medicine
- 2009
- Texas Academy of Medicine, Science and Engineering
- Michael E. DeBakey Excellence in Research Award
- 2007
- American Philosophical Society鈥檚 Judson Darland Prize for Achievement in Patient-Oriented Clinical Research
- 2005
- Society for Pediatric Research Young Investigator Award
- 2000
Professional Interests
- Developmental, translational and clinical studies of skeletal dysplasias and inborn errors of metabolism
Professional Statement
As a pediatrician and geneticist, the overall mission of my research program is to translate the study of structural birth defects and inborn errors of metabolism into a basic understanding of development, disease and novel therapeutic approaches. In the area of metabolism, we have applied genetic approaches to the study of biochemical genetic disorders (specifically urea cycle disorders) as models of complex diseases (those involving nitric oxide dysregulation). This has led us to study the consequences of metabolic derangements broadly in the endocrine, cardiovascular, skeletal, renal and neurological systems. In the area of structural birth defects, we have studied paracrine and endocrine signaling pathways that regulate skeletal development including morphogens (TGF飦, Wnt and Notch), and extracellular matrix proteins and their modifications (e.g., collagen prolyl-hydroxylation) that contribute to the human skeletal dysplasias including brittle bone diseases and connective tissue diseases like Ehlers-Danlos syndrome. These developmental pathways have led us to ask how their dysregulation contributes to common diseases such as osteoporosis, osteoarthritis and bone cancer.The mechanistic discoveries of my laboratory research program are translated into the clinical arena via clinical research that is performed as part of the Skeletal Dysplasia Clinic and the Metabolic Disorders Clinic at Texas Children鈥檚 Hospital, respectively, and as part of two NIH rare diseases clinical research consortia (the Brittle Bone Disorders Consortium and the Urea Cycle Disorders Consortium). My clinical research program began with stable isotopic measurements in humans and urea cycle disorder patients to better diagnose and assess new treatments. These human studies evolved into the assessment of nitric oxide flux in patients with UCDs and specifically in those with argininosuccinic aciduria. I have participated in and led both investigator-initiated and industry-sponsored interventional studies including the design and implementation of Phase II and III studies of a novel ammonia scavenger glyceryl-triphenylbutyrate in urea cycle patients; combinatorial phenylbutyrate/arginine treatment and nitric oxide supplementation in patients with argininosuccinic aciduria; and phenylbutyrate in maple syrup urine disease. In the area of skeletal dysplasias, I have studied the utility of zoledronic acid, teriparatide and anti-TGF飦 treatments in pediatric and adult osteogenesis imperfecta. Our preclinical gene therapy studies have led to a clinical trial of helper-dependent adenoviral gene therapy in osteoarthritis. Finally, I have focused on advancing the diagnosis of genetic diseases via gene discovery, multi-omic approaches to phenotyping and mechanistic studies in the NIH Undiagnosed Diseases Network.
Websites
Selected Publications
- Song, I. W., Nagamani, S. C., Nguyen, D., Grafe, I., et al., Lee, B. "." J Clin Invest.. 2022;132(7):e152571. Pubmed PMID:
- Marom R, Burrage LC, Venditti R, Cl茅ment A, Blanco-S谩nchez B, (鈥), Undiagnosed Diseases Network, Westerfield M, De Matteis MA, Lee B "." Am J Hum Genet.. 2021;108:1710-1724. Pubmed PMID:
- Lim J, Lietman C, Grol MW, Castellon A, Dawson B, (鈥), Lee BH "." Proc Natl Acad Sci U S A. 2021;118:e2100690118. Pubmed PMID:
- Jin Z, Kho J, Dawson B, Jiang MM, Chen Y, Ali S, Burrage LC, Grover M, Palmer DJ, Turner DL, Ng P, Nagamani SC, Lee B "." J Clin Invest. 2021 Mar 1;131(5):e138935. Pubmed PMID:
- Murdock DR, Dai H, Burrage LC, Rosenfeld JA, Ketkar S, M眉ller MF, Y茅pez VA, Gagneur J, Liu P, Chen S, Jain M, Zapata G, Bacino CA, Chao HT, Moretti P, Craigen WJ, Hanchard NA; Undiagnosed Diseases Network, Lee B "." J Clin Invest. 2021 Jan 4;131(1):e141500. Pubmed PMID:
- Burrage LC, Reynolds JJ, et al, Undiagnosed Diseases Network, Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B. "." Am J Hum Genet.. 2019;104(3):422-438. Pubmed PMID:
- Kho J, Tian X, Wong WT, Bertin T, Jiang MM, Chen S, Jin Z, Shchelochkov OA, Burrage LC, Reddy AK, Jiang H, Abo-Zahrah R, Ma S, Zhang P, Bissig KD, Kim JJ, Devaraj S, Rodney GG, Erez A, Bryan NS, Nagamani SCS, Lee BH. "." Am J Hum Genet. 2018;103(2):276-287. Pubmed PMID:
- Nixon AJ, Grol MW, Lang HM, Ruan MZC, Stone A, Begum L, Chen Y, Dawson B, Gannon F, Plutizki S, Lee BHL, Guse K "." Arthritis Rheumatol.. 2018;70(11):1757-1768. Pubmed PMID:
- Joeng KS, Lee YC, Lim J, Chen Y, Jiang MM, Munivez E, Ambrose C, Lee BH "." J Clin Invest. 2678-2688. 2017;127(7):2678-2688. Pubmed PMID:
- Zeng HC, Bae Y, Dawson BC, Chen Y, Bertin T, Munivez E, Campeau PM, Tao J, Chen R, Lee BH "." Nat Commun. 2017 Apr 11;8:15000. Pubmed PMID:
- Egunsola AT, Bae Y, Jiang MM, Liu DS, Chen-Evenson Y, Bertin T, Chen S, Lu JT, Nevarez L, Magal N, Raas-Rothschild A, Swindell EC, Cohn DH, Gibbs RA, Campeau PM, Shohat M, Lee BH "." J Clin Invest. 2017 Mar 6;127(4):1475-1484. Pubmed PMID:
- Tao J, Jiang MM, Jiang L, Salvo JS, Zeng HC, Dawson B, Bertin TK, Rao PH, R. Chen R, Donehower LA, Gannon F, Lee B (2014) "." Cancer Cell. 2014;26(3) Pubmed PMID:
- Grafe I, Yang T, Alexander S, Homan EP, Lietman C, Jiang MM, Bertin T, Munivez E, Chen Y, Dawson B, Ishikawa Y, Weis MA, Sampath TK, Ambrose C, Eyre D, B盲chinger HP, Lee B "." Nat Med.. 2014 Jun;20(6):670-5. Pubmed PMID:
- Orwoll ES, Shapiro J, Veith S, Wang Y, Lapidus J, Vanek C, Reeder JL, Keaveny TM, Lee DC, Mullins MA, Nagamani SC, Lee B "." J Clin Invest.. 2014 Feb 3;124(2):491-8. Pubmed PMID:
- Laine CM, Joeng KS, Campeau PM, Kiviranta R, Tarkkonen K, Grover M, Lu JT, Pekkinen M, Wessman M, Heino TJ, Nieminen-Pihala V, Aronen M, Laine T, Kr枚ger H, Cole WG, Lehesjoki AE, Nevarez L, Krakow D, Curry CJ, Cohn DH, Gibbs RA, Lee BH, M盲kitie O "." N. Engl. J. Med.. 2013 May 9;368(19):1809-16. Pubmed PMID:
- Ruan MZ, Erez A, Guse K, Dawson B, Bertin T, Chen Y, Jiang MM, Yustein J, Gannon F, Lee BH "." Sci Transl Med. 2013 Mar 13;5(176):176ra34. Pubmed PMID:
- Erez A, Nagamani SC, Shchelochkov OA, Premkumar MH, Campeau PM, Chen Y, Garg HK, Li L, Mian A, Bertin TK, Black JO, Zeng H, Tang Y, Reddy AK, Summar M, O'Brien WE, Harrison DG, Mitch WE, Marini JC, Aschner JL, Bryan NS, Lee B "." Nat. Med.. 2011;17(12):1619-26. Pubmed PMID:
- Yang T, Mendoza-Londono R, Lu H, Tao J, Li K, Keller B, Jiang MM, Shah R, Chen Y, Bertin TK, Engin F, Dabovic B, Rifkin DB, Hicks J, Jamrich M, Beaudet AL, Lee B "." J. Clin. Invest.. 2010 Jul 1;120(7):2474-85. Pubmed PMID:
- Engin F, Yao Z, Yang T, Zhou G, Bertin T, Jiang MM, Chen Y, Wang L, Zheng H, Sutton RE, Boyce BF, Lee B "." Nat. Med.. 2008 Mar;14(3):299-305. Pubmed PMID:
- Zhou G, Zheng Q, Engin F, Munivez E, Chen Y, Sebald E, Krakow D, Lee B "." Proc. Natl. Acad. Sci. U.S.A.. 2006 Dec 12;103(50):19004-9. Pubmed PMID:
- Morello R, Bertin TK, Chen Y, Hicks J, Tonachini L, Monticone M, Castagnola P, Rauch F, Glorieux FH, Vranka J, B盲chinger HP, Pace JM, Schwarze U, Byers PH, Weis M, Fernandes RJ, Eyre DR, Yao Z, Boyce BF, Lee B "." Cell. 2006 Oct 20;127(2):291-304. Pubmed PMID:
- Toietta G, Mane VP, Norona WS, Finegold MJ, Ng P, McDonagh AF, Beaudet AL, Lee B "." Proc. Natl. Acad. Sci. U.S.A.. 2005 Mar 15;102(11):3930-5. Pubmed PMID:
- Lee B, Yu H, Jahoor F, O'Brien W, Beaudet AL, Reeds P "." Proc. Natl. Acad. Sci. U S A. 2000 Jul 5;97(14):8021-6. Pubmed PMID:
- Morello R, Zhou G, Dreyer SD, Harvey SJ, Ninomiya Y, Thorner PS, Miner JH, Cole W, Winterpacht A, Zabel B, Oberg KC, Lee B "." Nat Genet.. 2001 Feb;27(2):205-8. Pubmed PMID:
Memberships
- American Society of Human Genetics
- Member
- Society for Pediatric Research
- Member
- American College of Medical Genetics
- Member
- American Society for Clinical Investigation
- Member
- Society for Inherited Metabolic Disease
- Member
- National Academy of Medicine
- Association of American Physicians
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