Sandeep Wontakal, MD, PhD

Professional Titles

Director of Clinical Pathology at JHBMC

Primary Academic Title

Assistant Professor of Pathology

Background

Additional Academic Titles

Assistant Professor of Genetic Medicine

Contact for Research Inquiries

720 Rutland Ave

Ross Building, Room 632B

Baltimore, MD 21205

Phone: (410) 614-8138

Research Interests

Genetics, Genomics, Rare Disease, Model Organisms

Research Summary

The work in our group focuses on searching for novel disease genes, establishing the pathogenicity of these genes, and understanding the in vivo consequences of their genetic alteration. Our basic working hypothesis is that deleterious variants in multiple components (i.e., genes) of a given genetic pathway could give rise to similar diseases. Therefore, knowing the components of a pathway may allow one to identify novel variants in genes previously not associated with disease. Model organisms, including the roundworm, C. elegans, have served as powerful systems to dissect and identify components of genetic pathways.  We strive to merge human genetics with model organism genetics such that findings in one, drive discovery in the other.

PubMed

https://www.ncbi.nlm.nih.gov/myncbi/1jug1miRZ6d/bibliography/public/

Selected Publications

• Dharmadhikari AV, Abad MA, Khan S, Maroofian R, Sands TT, Ullah F, Samejima I, Wear MA, Moore KE, Kondakova E, Mitina N, Schaub T, Lee GK, Umandap CH, Berger SM, Iglesias AD, Popp B, Jamra RA, Gabriel H, Rentas S, Rippert AL, Izumi K, Conlin LK, Koboldt DC, Mosher TM, Hickey SE, Albert DVF, Norwood H, Lewanda AF, Dai H, Liu P, Mitani T, Marafi D, Pehlivan D, Posey JE, Lippa N, Vena N, Heinzen EL, Goldstein DB, Mignot C, de Sainte Agathe JM, Al-Sannaa NA, Zamani M, Sadeghian S, Azizimalamiri R, Seifia T, Zaki MS, Abdel-Salam GMH, Abdel-Hamid M, Alabdi L, Alkuraya FS, Dawoud H, Lofty A, Bauer P, Zifarelli G, Afzal E, Zafar F, Efthymiou S, Gossett D, Towne MC, Yeneabat R, Wontakal SN, Aggarwal VS, Rosenfeld JA, Tarabykin V, Ohta S, Lupski JR, Houlden H, Earnshaw WC, Davis EE, Jeyaprakash AA, Liao J. RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS. medRxiv [Preprint]. 2024 Jan 9:2024.01.09.23300329. doi: 10.1101/2024.01.09.23300329. PMID: 38260255
• Wontakal SN, Britto M, Zhang H, Han Y, Gao C, Tannenbaum S, Durham BH, Lee MT, An X, Mishima M. RACGAP1 variants in a sporadic case of CDA III implicate the dysfunction of centralspindlin as the basis of the disease. Blood. 2022 Mar 3;139(9):1413-1418. doi: 10.1182/blood.2021012334. PMID: 34818416
• Wontakal SN, Bortz RH 3rd, Lin WW, Gendlina I, Fox AS, Hod EA, Chandran K, Prystowsky MB, Weiss LM, Spitalnik SL. Approaching the Interpretation of Discordances in SARS-CoV-2 Testing. Open Forum Infect Dis. 2021 Mar 23;8(7):ofab144. doi: 10.1093/ofid/ofab144. PMID: 34316498
• O'Donnell MR, Grinsztejn B, Cummings MJ, Justman JE, Lamb MR, Eckhardt CM, Philip NM, Cheung YK, Gupta V, João E, Pilotto JH, Diniz MP, Cardoso SW, Abrams D, Rajagopalan KN, Borden SE, Wolf A, Sidi LC, Vizzoni A, Veloso VG, Bitan ZC, Scotto DE, Meyer BJ, Jacobson SD, Kantor A, Mishra N, Chauhan LV, Stone EF, Dei Zotti F, La Carpia F, Hudson KE, Ferrara SA, Schwartz J, Stotler BA, Lin WW, Wontakal SN, Shaz B, Briese T, Hod EA, Spitalnik SL, Eisenberger A, Lipkin WI. A randomized double-blind controlled trial of convalescent plasma in adults with severe COVID-19. J Clin Invest. 2021 Jul 1;131(13):e150646. doi: 10.1172/JCI150646. PMID: 33974559
• Weisberg SP, Connors TJ, Zhu Y, Baldwin MR, Lin WH, Wontakal S, Szabo PA, Wells SB, Dogra P, Gray J, Idzikowski E, Stelitano D, Bovier FT, Davis-Porada J, Matsumoto R, Poon MML, Chait M, Mathieu C, Horvat B, Decimo D, Hudson KE, Zotti FD, Bitan ZC, La Carpia F, Ferrara SA, Mace E, Milner J, Moscona A, Hod E, Porotto M, Farber DL. Distinct antibody responses to SARS-CoV-2 in children and adults across the COVID-19 clinical spectrum. Nat Immunol. 2021 Jan;22(1):25-31. doi: 10.1038/s41590-020-00826-9. Epub 2020 Nov 5. PMID: 33154590

Honors

• Shaffer-Wilk-Miller Fellow in Laboratory Medicine, Shaffer Wilk Miller, 7/1/13
• Louis and Rachel Rudin Scholar, Louis and Rachel Rudin Foundation, 1/1/10

Graduate Program Affiliations

Human Genetics and Genomics

XDBio

Memberships

• American Society of Human Genetics
• Genetics Society of America