Sandesh C.S. Nagamani, M.B.B.S, M.D., FACMG
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Positions
- Professor
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Molecular and Human Genetics
Baylor College of Medicine
Houston, TX US
- Vice Chair, Clinical Research Affairs
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Molecular and Human Genetics
Baylor College of Medicine
- Professor
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Department of Medicine
Baylor College of Medicine
- Director
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BCM Intellectual and Developmental Disabilities Research Center
Baylor College of Medicine
- Director
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BCM Intellectual and Developmental Disabilities Research Center
Clinical Translational Core
Addresses
- Adult Genetics Clinic (Clinic)
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Baylor College of Medicine Medical Center - McNair Campus
7200 Cambridge St.
Houston, TX 77030
United States
Phone: (713) 798-7820
Adult Genetics Clinic
Education
- Residency at Baylor College Of Medicine
- 10/2009 - Houston, Texas United States
- Internal Medicine
- Postdoctoral Training at Baylor College Of Medicine
- 06/2009 - Houston, Texas United States
- Clinical Genetics
- Residency at Baylor College Of Medicine
- 06/2008 - Houston, Texas United States
- Clinical Genetics
- Residency at Fairview Hospital, A Cleveland Clinic Hospital
- 06/2006 - Cleveland, Ohio United States
- Residency at Gandhi Medical College
- 01/2003 - Bhopal, India
- Internal Medicine
- MBBS from University of Mysore
- 01/1999 - Mysore, India
- Medical School
Certifications
- American Board of Medical Genetics and Genomics
- American Board of Internal Medicine
Honors & Awards
- Rising Star Award
- Baylor College of Medicine (05/2015)
- Norton Rose Fulbright Faculty Excellence Award for Teaching and Evaluation
- 11/2016
- Norton Rose Fulbright Faculty Excellence Award for Creation of Enduring Materials
- 05/2021
- Member, Academy of Distinguished Educators at BCM
- Clark Faculty Service Award
- BCM (05/2023)
- Adult Genetics Excellence in Education Award
- 2012, 2013, 2015, 2016, 2022
- Department of Molecular and Human Genetics, Baylor College of Medicine
- Doris Duke Foundation Paragon Award for Research Excellence
- 10/2023
Professional Statement
I am an internist and a clinical geneticist who is focused on improving clinical care in individuals with genetic disorders. The focus of my research program is clinical investigation including conducting natural history studies, proof-of-concept pilot studies, and interventional clinical trials in individuals with inborn errors of metabolism and skeletal dysplasias.Inborn Errors of Metabolism: I served as Multiple Principal Investigator (MPI) for the NIH Rare Diseases Clinical Research Network’s Urea Cycle Disorders Consortium (UCDC) and contact PI for the Pilot/Feasibility core and the career enhancement core of the consortium. The UCDC has implemented 19 studies that have collectively enrolled a more than1600 participants, trained nearly 30 early career investigators, and facilitated the development of novel biomarkers, clinical endpoints, and therapies for urea cycle disorders.
Skeletal dysplasia: As a lead investigator of the NIH Rare Diseases Clinical Research Network’s Brittle Bone Disorders Consortium, I am involved in conducting natural history studies and interventional clinical trials in individuals with osteogenesis imperfecta, the most common osteodysplasia in humans. I have developed clinical endpoints and biomarkers to assess disease burden from the perspective of clinical trial readiness and had lead roles in clinical trials evaluating novel therapies for OI including the first disease-specific therapy with anti-transforming growth factor beta antibody.
Clinical Interests: As an internist and clinical geneticist, I provide care to adults with a wide variety of heritable conditions including osteogenesis imperfecta, genetic skeletal disorders, intellectual and developmental disabilities, Mendelian forms of cancer, and heritable connective tissue disorders.
Intellectual and Developmental Disabilities Research Center: I serve as MPI and Director for the NICHD-funded Intellectual and Developmental Disabilities Research Center at BCM. Our center supports translational research activities of more than 80 investigators engaged in advancing research and clinical care for individuals with intellectual and developmental disabilities.
Educational Activities: On the educational front, I have been heavily involved in patient-outreach activities and education of early career investigators. I have assisted in developing resources for education of families and physicians across our country about specific rare disorders. I have worked with the TeleECHO program to implement and deliver virtual training materials to patients and providers. The latter project has used guided-practice model to reduce health disparities in under-served and remote areas through innovative tele-mentoring.
Websites
Selected Publications
- "Complete List of Publications on Pubmed." ;
- Nagamani SCS, Ali S, Izem R, Schady D, Masand P, Shneider BL, Leung DH, Burrage LC "Biomarkers for liver disease in urea cycle disorders." Mol Genet Metab. 2021 Jun;133:148-156. Pubmed PMID: 33846069
- Song IW*, Nagamani SC*, Nguyen D, Grafe I, Sutton VR, Gannon FH, Munivez E, Jiang MM, Tran A, Wallace M, Esposito P, Musaad S, Strudthoff E, McGuire S, Thornton M, Shenava V, Rosenfeld S, Shypailo R, Orwoll E, Lee B "Targeting TGF-β for treatment of osteogenesis imperfecta." J Clin Invest. 2022;132:e152571. Pubmed PMID: 35113812
- Murali CN, Cuthbertson D, Slater B, Nguyen D, Turner A, Harris G, Sutton VR, Lee B, Members of the BBDC, Nagamani SCS. "Pediatric Outcomes Data Collection Instrument is a Useful Patient-Reported Outcome Measure for Physical Function in Children with Osteogenesis Imperfecta." Genet Med. 2020;22:581-589. Pubmed PMID: 31772349
- Lee JS, Adler L, Karathia H, Carmel N, Rabinovich S, (...), Nagamani SCS, Unda M, Wilson DM 3rd, Elhasid R, Carracedo A, Samuels Y, Hannenhalli S, Ruppin E, Erez A "Urea Cycle Dysregulation Generates Clinically Relevant Genomic and Biochemical Signatures.." Cell. 2018;174:1559-1570.e22. Pubmed PMID: 30100185
- 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 "Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension.." Am J Hum Genet.. 2018;103:276-287. Pubmed PMID: 30075114
- Nagamani SCS, Agarwal U, Tam A, Azamian M, McMeans A, Didelija IC, Mohammad MA, Marini JC "A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers.." Genet Med.. 2018;20:708-716. Pubmed PMID: 29693650
- Jain M, Tam A, Shapiro JR, Steiner RD, Smith PA, (...), Members of the Brittle Bone Disorders Consortium*, Nagamani SCS "Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study.." Genet Med.. 2018;21:275-283. Pubmed PMID: 29970925
- Marini JC, Agarwal U, Didelija IC, Azamian M, Stoll B, Nagamani SC "Plasma Glutamine Is a Minor Precursor for the Synthesis of Citrulline: A Multispecies Study.." J Nutr.. 2017;147:549-555.. Pubmed PMID: 28275102
- Rabinovich S, Adler L, Yizhak K, Sarver A, Silberman A, Agron S, Stettner N, Sun Q, Brandis A, Helbling D, Korman S, Itzkovitz S, Dimmock D, Igor Ulitsky, Nagamani SC, Ruppin E and Erez A "Diversion of aspartate in ASS1-deficient tumours fosters de novo pyrimidine synthesis.." Nature. 2015 Nov;527(7578):379-83. Pubmed PMID: 26560030
- 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 "Requirement of argininosuccinate lyase for systemic nitric oxide production." Nat Med. 2011 Nov 13;17(12):1619-26. Pubmed PMID: 22081021
- Nagamani SC, Campeau PM, Shchelochkov OA, Premkumar MH, Guse K, Brunetti-Pierri N, Chen Y, Sun Q, Tang Y, Palmer D, Reddy AK, Li L, Slesnick TC, Feig DI, Caudle S, Harrison D, Salviati L, Marini JC, Bryan NS, Erez A, Lee B "Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria." Am J Hum Genet. 2012 May 4;90(5):836-46. Pubmed PMID: 22541557
- Orwoll ES, Shapiro J, Veith S, Wang Y, Lapidus J, Vanek C, Reeder JL, Keaveny TM, Lee DC, Mullins MA, Nagamani SC, Lee B "Evaluation of teriparatide treatment in adults with osteogenesis imperfecta." J Clin Invest. 2014 Feb 3;124(2):491-8. Pubmed PMID: 24463451
- Nagamani SC, Shchelochkov OA, Mullins MA, Carter S, Lanpher BC, Sun Q, et al "A randomized controlled trial to evaluate the effects of high-dose versus low-dose of arginine therapy on hepatic function tests in argininosuccinic aciduria." Mol Genet Metab. 2012 Nov;107(3):315-21. Pubmed PMID: 23040521
- Liu P, Erez A, Nagamani SC, Dhar SU, Kołodziejska KE, Dharmadhikari AV, et al "Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements." Cell. 2011 Sep 16;146(6):889-903. Pubmed PMID: 21925314
- Bellur S, Jain M, Cuthbertson D, Krakow D, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Krischer J, Mullins MA, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Sutton VR, Lee B, “Members of the BBD Consortium”, and SC Nagamani "Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta." Genetics in Medicine. 2016 Oct;18:570-6. Pubmed PMID: 26426884
Memberships
- Rolanette and Berdon Lawrence Bone Disease Program of Texas
- Member
- American College of Medical Genetics
- Elected Fellow
- American Society for Bone and Mineral Research
- Member
- American Society of Human Genetics
- Member
Funding
- Co-Principal Investigator for the NIH RDCRN's Urea Cycle Disorders Consortium - #U54HD061221
- ( 08/01/2014 ) Grant funding from NCATS, NICHD, NIDDK for the RDCRN
- Principal Investigator, Clinical Translational Core, IDDRC - #P50HD103555
- ( 08/01/2019 ) Grant funding from NICHD
- Nitric Oxide And Bone Homeostasis In Patients With Argininosuccinate Lyase Deficiency - #R01AR071741
- ( 04/01/2017 ) Grant funding from NIAMS
- U54 Career Enhancement Core, Brittle Bone Disorders Consortium - #AR068069
- ( 08/01/2019 ) Grant funding from NCATS, NIAMS, NIDCR, NIHMS, NICHD for the RDCRN
- Intellectual and Developmental Disabilities Research Center - #P50 HD103555 Grant funding from NICHD
- PI
- Career Enhancement Core - #U54 HD061221 Grant funding from NCATS, NICHD, NIDDK for the RDCRN
- Pilot Feasibility Core - #U54 HD061221 Grant funding from NCATS, NICHD, NIDDK
Languages
Hindi, Kannada
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