Mauricio J. De Castro Pretelt, MD
Associate Professor
Department:
SOM-Peds-Genetics
Email:
mdecastro@umc.edu
Work Phone:
(601) 984-1900
Education
| NIH/National Human Genome Research Institute, MD, Clinical Molecular Genetics | 2015 |
| Johns Hopkins University SOM, MD, Medical Genetics | 2014 |
| Keesler AFB, MD, Internal Medicine | 2012 |
| Universidad Del Norte, Barranquilla, Colombia, MD, Doctor of Medicine | 2004 |
Specialty Certification Licensure
| Certification, Internal Medicine Board Certification, American Board of Internal Medicine | 06/2012 - Present |
| Certification, Clinical Molecular Genetics Board Certification, American Board of Genetics & Genomics | 09/2015 - 12/2025 |
| Certification, Clinical Genetics Board Certification, American Board of Genetics & Genomics | 09/2015 - 12/2025 |
| Licensure, MS Medical License, State of MS | 05/2021 - 06/2022 |
Current Positions
| Division Chief, School of Medicine | 08/2022 - Present |
| Assistant Professor, School of Medicine, Department of Pediatrics | 07/2018 - Present |
| Director | 07/2018 - Present |
| Genetics Chief Consultant to the Air Force Surgeon General, School of Medicine | 07/2018 - Present |
| The University of Mississippi Medical Center Jackson, Mississippi 39216 | |
Sponsored Program Funding
| Extramural, PopSeq: Return of Genomic Results and Estimating Penetrance in Population-Based Cohorts, Jackson Heart Study | 06/2022 - 06/2024 |
| Extramural, Enabling Personalized Medicine through Exome Sequencing in the US Air Force. The MilSeq study, US Air Force-Harvard Medical School | 12/2016 - 12/2018 |
Publications
Review | |
| Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Schlotawa L, Adang L, De Castro M, Ahrens-Nicklas R, Multiple Sulfatase Deficiency. , 1993; | |
Journal Article | |
| Walsh JC, Messersmith LM, Fitzgerald J, De Castro MJ, Forensic Autopsy Reveals Novel Pathogenic Variant of PKD1 Associated With Polycystic Kidney Disease. The American journal of forensic medicine and pathology, 2023 Mar 1;44(1):e4-e7 | 2023 |
| Chapleau RR, Regn DD, de Castro MJ, Surveying the Genomic Landscape Supporting the Development of Precision Military Aerospace Medicine. Aerospace medicine and human performance, 2022 Feb 1;93(2):89-93 | 2022 |
| Doll B, De Castro MJ, Fries MH, Pock AR, Seibert D, Yang W, Precision Medicine-A Demand Signal for Genomics Education. Military medicine, 2021 Dec 30;187(Suppl 1):40-46 | 2021 |
| Maxwell MD, Hsu R, Islam R, Robinson JO, Pereira S, Gardner CL, Green RC, MilSeq Project, De Castro M, Educating military primary health-care providers in genomic medicine: lessons learned from the MilSeq Project. Genetics in medicine : official journal of the American College of Medical Genetics, 2020 Oct;22(10):1710-1717 | 2020 |
| Pereira S, Hsu RL, Islam R, Robinson JO, Ramapriyan R, Sirotich E, Maxwell MD, Majumder M, Blout CL, Christensen KD, Mehlman M, Parasidis E, Gardner CL, Killian JM, De Castro M, Green RC, MilSeq Project, McGuire AL, Airmen and health-care providers' attitudes toward the use of genomic sequencing in the US Air Force: findings from the MilSeq Project. Genetics in medicine : official journal of the American College of Medical Genetics, 2020 Dec;22(12):2003-2010 | 2020 |
| Adang LA, Schlotawa L, Groeschel S, Kehrer C, Harzer K, Staretz-Chacham O, Silva TO, Schwartz IVD, Gärtner J, De Castro M, Costin C, Montgomery EF, Dierks T, Radhakrishnan K, Ahrens-Nicklas RC, Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease. Journal of inherited metabolic disease, 2020 Nov;43(6):1298-1309 | 2020 |
| Venne V, Arfons L, De Castro M, Rider R, Thakar I Genomic Medicine and Genetic Counseling in the Department of Veterans Affairs and Department of Defense Federal Practitioner 2019 August;36(5):S15-S20 | 2019 |
| Hellwig LD, Turner C, Manolio TA, Haigney M, James CA, Murray B, Szpisjak DF, Muldoon S, Estrada-Veras J, Krokosky A, De Castro MJ. Return of secondary findings in genomic sequencing: Military Implications. Mol Genet Genomic Med.2018 Nov 10. doi: 10.1002/mgg3.483 | 2018 |
| Núñez-Manchón J, Ballester-Lopez A, Koehorst E, Linares-Pardo I, Coenen D, Ara I, Rodriguez-Lopez C, Ramos-Fransi A, Martínez-Piñeiro A, Lucente G, Almendrote M, Coll-Cantí J, Pintos-Morell G, Santos-Lozano A, Arenas J, Martín MA, de Castro M, Lucia A, Santalla A, Nogales-Gadea G Correction to: Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins. J Inherit Metab Dis. 2018 Jul 20 doi: 10.1007/s10545-018-0236-6. | 2018 |
| Núñez-Manchón J, Ballester-Lopez A, Koehorst E, Linares-Pardo I, Coenen D, Ara I, Rodriguez-Lopez C, Ramos-Fransi A, Martínez-Piñeiro A, Lucente G, Almendrote M, Coll-Cantí J, Pintos-Morell G, Lozano AS, Arenas J, Martín MA, de Castro M, Lucia A, Santalla A, Nogales-Gadea G. Manifesting heterozygotes in McArdle disease: a myth or a reality-role in statins. J Inherit Metab Dis.2018 Jun 20. doi: 10.1007/s10545-018-0203-2 | 2018 |
| Ahrens-Nicklas R, Schlotawa L, Ballabio A, Brunetti-Pierri N, De Castro M, Dierks T, Eichler F, Ficicioglu C, Finglas A, Gaertner J, Kirmse B, Klepper J, Lee M, Olsen A, Parenti G, Vossough A, Vanderver A, Adang LA. Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement. Mol Genet Metab.2018 Mar;123(3):337-346. doi: 10.1016/j.ymgme.2018.01.005 | 2018 |
| De Castro MJ, Turner CE Military genomics: a perspective on the successes and challenges of genomic medicine in the Armed Services. Mol Genet Genomic Med. 2017 Nov;5(6):617-620. doi: 10.1002/mgg3.335. | 2017 |
| De Castro M, Biesecker LG, Turner C, Brenner R, Witkop C, Mehlman M, Bradburne C, Green RC. Genomic medicine in the military. NPJ Genom Med. 2016 Jan 13;1:15008. doi: 10.1038/npjgenmed.2015.8 | 2016 |
| De Castro M, Johnston J, Biesecker L, Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing data. Genetics in medicine : official journal of the American College of Medical Genetics, 2015 Dec;17(12):1002-6 | 2015 |
| De Castro M, Restrepo CM, Genetics and genomic medicine in Colombia. Molecular genetics & genomic medicine, 2015 Mar;3(2):84-91 | 2015 |
| Bhasin B, Stiburkova B, De Castro M, Beck N, Bodhurta J, Atta M Hereditary renal hyperuricemia: A new role for allopurinol? Am J Med. 2014 Jan;127(1):e3-4. doi: 10.1016/j.amjmed.2013.08.025. Epub 2013 Nov 19. PMID: 24262806. | 2014 |
| De Castro M Johann Gregor Mendel: paragon of experimental science. Mol Genet Genomic Med. 2016 Jan 8;4(1):3-8. doi: 10.1002/mgg3.199 | 2014 |
| Carroll M, De Castro M, Hust N, Smith D, Bashford M The relationship between two Xanthine oxidase single nucleotide polymorphisms to hyperuricemia, gout, and dose of xanthine oxidase inhibitor Journal of Musculoskeletal Research. Vol. 16, No. 01, 1350004 (2013) | 2013 |
| De Castro M, Zand DJ, Lichter-Konecki U, Kirmse B, Severe neonatal holocarboxylase synthetase deficiency in west african siblings. JIMD reports, 2015;20:1-4 | |
Book Chapter | |
| De Castro M, Turner C, Kirmse B Practical recommendations for the transition to adulthood for the adolescent with a genetic diagnosis. Special emphasis on inborn errors of metabolism Translational Science of Rare Diseases, vol. 4, no. 3-4, pp. 159-168, 2019 | 2020 |
| Estrada JV, Ellsworth R, De Castro M, Turner C, Shriver C The Fundamentals of Precision Medicine | |
Clinical Trial | |
| Lane WJ, Vege S, Mah HH, Lomas-Francis C, Aguad M, Smeland-Wagman R, Koch C, Killian JM, Gardner CL, De Castro M, Lebo MS, Kaufman RM, Green RC, Westhoff CM, MilSeq Project, Automated typing of red blood cell and platelet antigens from whole exome sequences. Transfusion, 2019 Oct;59(10):3253-3263 | 2019 |
Presentations
| Platform Presentations, The Wasteland Within the Desert: The Status of Adult Genetic Services in the Southeast Region of the United States, American College of Medical Genetics, Salt lake City,UT | 03/2023 |
| Poster Presentation, A pilot study inegrating clincial genome sequencing into the US Air Force: Airmen percepetions and attitudes after receiving results in the MilSeq study, American Society of Human Genetics, Houston, TX | 10/2019 |
| Poster Presentation, Broad genomic screening of active duty Air Force members: Findings from the Milseq study., American Society if Human Genetics, Houston, TX | 10/2019 |
| Invited Symposia, Implementation of clinical grade next-generation sequencing in the DoD: Lessons learned and challenges ahead., Booz Allen Hamilton, Washington,DC | 09/2019 |
| Regional Invited Seminars/Lectures, You and your genes: a deep dive into genetics, Gulf Coast Research Laboratory, Biloxi,MS | 04/2019 |
| Poster Presentation, Healthy Genomic sequencing: What Airmen want to know? Findings from the MilSeq project., National Society of Genetic Counselors, Atlanta,GA | 11/2018 |
| Poster Presentation, A new model for genomics support of military healthcare providers: early findings from the MilSeq project, American Society of Human Genetics, San Diego,CA | 10/2018 |
| Poster Presentation, Airmen's attitudes towards genomic sequencing in the US Air Force: Results from the MilSeq project, American Society of Human Geneticsc, San Diego, CA | 10/2018 |
| National and International Invited Seminars/Lectures, Whole exome sequencing in the military healthcare system: legal and ethical issues, The American Society of Law, Cleveland,OH | 06/2018 |
| Poster Presentation, Subtle presentation of hypophosphatasia in a large kindred. Manifesting heterozygotes?, American College of Medical Genetics, Charlotte,NC | 04/2018 |
| Poster Presentation, What's in a name? Extensive Turner syndrome stigmata in a 45X,46XY mosaic male. Implications for clinical management, American College of Medical genetics, Charlotte,NC | 04/2018 |
| Poster Presentation, Pharmacogenomics in the US Air Force: development of a tailored panel for the MilSeq project., American College of Medical Genetics, Charlotte, NC | 04/2018 |
| Poster Presentation, SMN1 Carrier screening in the department of defense populations: The first 1704 patients., American College of Medical genetics, Charlotte,NC | 04/2018 |
| Poster Presentation, Special Considerations for Genomic Sequencing Research in the United States Air Force: Development of the MilSeq Project., American Society of Human Genetics, Orlando, FL | 10/2017 |
| Regional Invited Seminars/Lectures, 2nd Personalized Medicine Symposium: Precision Medicine - Enhancing Health and Human Performance, Arlington, VA | 04/2015 |
| National and International Invited Seminars/Lectures, "Gregor Mendel memorial lecture", NHGRI, Bethesda, MD | 03/2015 |
Honors, Awards, and Recognition
| Company Grade Officer of the Quarter, United States Air Force | 2017 |
Professional Membership and Service
| American College of Medical Genetics and Genomics, Fellow, Member of the Professional Practices and Guidelines Panel | 2021 - 2024 |
| Multiple Sulfatase Deficiency Foundation, Board of Advisors of a Company | 2015 - Present |
| American College of Physicians, Member | 2009 - 2018 |
| American Medical Association, Member | 2009 - Present |
Committee Service
| Genetics Advisory Committee, Member | 2023 - Present |
| Genetic Testing Stewardship Committee, Member | 2022 - Present |
| Professional Practices and Guidelines Committee, Member | 2020 - 2024 |
| United Multiple Sulfatase Deficiency Foundation, Member | 2017 - Present |
| Keesler AFB - Cancer Activities Committee, Member | 2015 - Present |
| IOM Participant in the Institute of Medicine (IOM) roundtable on integration of genomic information into the EHR. Displaying and Integrating Genetic Information Through the EHR Action Collaborative, Member | 2014 - 2015 |
| TRICARE Laboratory Working Group.Defense Health Agency, Member | 2013 - Present |
Community Service
| Special Olympics, Mississippi Chapter, Volunteer | 04/2023 - 04/2023 |
| Special Olympics, Mississippi Chapter, Volunteer | 05/2022 - 05/2022 |
| Pathways to Blues, Speaker | 09/2018 - 09/2018 |
| Special Olympics, Mississippi Chapter, Volunteer | 05/2018 - 05/2018 |
Other Service
| Roche Diagnostics | 06/2023 - 06/2023 |
| Genetics in Medicine | 2018 - Present |
| American Journal Of Medical Genetics | 2018 - Present |
| Military Medicine | 2018 - Present |
| NIH Genetics Home Reference, Cytochrome P450 oxidoreductase deficiency | |
| Molecular Genetics & Genomic Medicine |
Teaching Experience
| Medicine, Small Group, Lecturer, Project ECHO-Marfan Syndrome | Summer 2023 |
| Medicine, Lecture, Lecturer, Rheumatology Fellows Lecture-Hereditary Connective Tissue Disorders | Annual 2023 - 2023 |
| Medicine, Lecture, Lecturer, Pediatric Grand Rounds-Hereditary Cancer syndromes | Summer 2023 |
| Medicine, Course, Attending, Clinical intro to Medical genetics-Medical Students | Summer 2022 - 2022 |
| Medicine, Lecture, Lecturer, Clinical Applicability of Genetics-Peds residents | Annual 2020 - 2020 |
| Medicine, Lecture, Lecturer, Clinical applicability of Genetics-Peds residents | Annual 2019 - 2019 |
Directed Student Learning
| Research Advisor, Advised: Alyssa Rondinelli | 2023 - 2023 |