Mahim Jain, MD, PhD

Mahim Jain, MD, PhD's picture
Osteogenesis Imperfecta Clinic at Kennedy Krieger Institute

Kennedy Krieger Institute
707 N. Broadway
Baltimore, MD 21205

Dr Mahim Jain is a member of the Osteogenesis Imperfecta Clinic at Kennedy Krieger Institute and an an assistant professor in the Department of Pediatrics  at the Johns Hopkins School of Medicine. Dr. Jain has a strong clinical and research interest in treating and understanding disorders of low bone density. 

Biographical Sketch: 

Dr. Jain received his bachelor’s degree from The University of Notre Dame, graduating summa cum laude in biochemistry. He completed his medical school at Indiana University School of Medicine and completed a Ph.D. from The University of Oxford, focused on using statistical and computational methods to identify genetic variants that contribute to both rare and complex human traits. During that time he was a Howard-Hughes Medical Institute-National Institutes of Health Research Scholar and a National Institutes of Health-Oxford Biomedical Scholar. He completed his clinical residency at Baylor College of Medicine in the combined pediatrics and genetics residency program. During training he was involved in clinical research efforts focused on studying clinically-relevant outcomes in a large multi-center cohort of patients with osteogenesis imperfecta. He also gained skills in the evaluation of next-generation sequencing data and is currently the Co-lead of the Baylor College of Medicine Clinical Site of the Undiagnosed Diseases Network Sequence Analysis Group.

Research Summary: 

Dr. Jain enjoys performing statistical analyses in both epidemiologic and genetic datasets. While studying a large multi-center osteogenesis imperfecta cohort, he authored a publication showing that at-birth fracture rates were not dependent on delivery method. He is also currently characterizing growth parameters in the OI dataset, with the hope of providing clinical guidance for expected growth parameters in OI. Dr. Jain also has identified and contributed to efforts that have identified genetic variants, whether common or rare, that contribute to human disorders, including OI, other skeletal disorders and also attention-deficit/hyperactivity disorder.

Research Publications:

Romere C, Duerrschmid C, Bournat J, Constable P, Jain M, Xia F, Saha PK, Del Solar M, Zhu B, York B, Sarkar P, Rendon DA, Gaber MW, LeMaire SA, Coselli JS, Milewicz DM, Sutton VR, Butte NF, Moore DD, Chopra AR (2016). Asprosin, a Fasting-Induced Glucogenic Protein Hormone. Cell. 165(3), 566-79. Abstract
Boone PM, Yuan B, Gu S, Ma Z, Gambin T, Gonzaga-Jauregui C, Jain M, Murdock TJ, White JJ, Jhangiani SN, Walker K, Wang Q, Muzny DM, Gibbs RA, Hejtmancik JF, Lupski JR, Posey JE, Lewis RA (2016). Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death. Mol Genet Genomic Med. 4(1), 77-94. Abstract
Pferdehirt R, Jain M, Blazo MA, Lee B, Burrage LC (2015). Catel-Manzke Syndrome: Further Delineation of the Phenotype Associated with Pathogenic Variants in <i>TGDS</i>. Mol Genet Metab Rep. 4, 89-91. Abstract
Chong JX, Burrage LC, Beck AE, Marvin CT, McMillin MJ, Shively KM, Harrell TM, Buckingham KJ, Bacino CA, Jain M, Alanay Y, Berry SA, Carey JC, Gibbs RA, Lee BH, Krakow D, Shendure J, Nickerson DA, University of Washington Center for Mendelian Genomics, Bamshad MJ (2015). Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. Am J Hum Genet. 96(5), 841-9. Abstract
Lalani SR, Zhang J, Schaaf CP, Brown CW, Magoulas P, Tsai AC, El-Gharbawy A, Wierenga KJ, Bartholomew D, Fong CT, Barbaro-Dieber T, Kukolich MK, Burrage LC, Austin E, Keller K, Pastore M, Fernandez F, Lotze T, Wilfong A, Purcarin G, Zhu W, Craigen WJ, McGuire M, Jain M, Cooney E, Azamian M, Bainbridge MN, Muzny DM, Boerwinkle E, Person RE, Niu Z, Eng CM, Lupski JR, Gibbs RA, Beaudet AL, Yang Y, Wang MC, Xia F (2014). Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 95(5), 579-83. Abstract
Burrage LC, Jain M, Gandolfo L, Lee BH, Members of the Urea Cycle Disorders Consortium, Nagamani SC (2014). Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders. Mol Genet Metab. 113(1-2), 131-5. Abstract
Murali C, Lu JT, Jain M, Liu DS, Lachman R, Gibbs RA, Lee BH, Cohn D, Campeau PM (2014). Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia. Mol Genet Metab Rep. 1, 213-219. Abstract
Jain M, Vélez JI, Acosta MT, Palacio LG, Balog J, Roessler E, Pineda D, Londoño AC, Palacio JD, Arbelaez A, Lopera F, Elia J, Hakonarson H, Seitz C, Freitag CM, Palmason H, Meyer J, Romanos M, Walitza S, Hemminger U, Warnke A, Romanos J, Renner T, Jacob C, Lesch KP, Swanson J, Castellanos FX, Bailey-Wilson JE, Arcos-Burgos M, Muenke M (2012). A cooperative interaction between LPHN3 and 11q doubles the risk for ADHD. Mol Psychiatry. 17(7), 741-7. Abstract
Klopocki E, Lohan S, Brancati F, Koll R, Brehm A, Seemann P, Dathe K, Stricker S, Hecht J, Bosse K, Betz RC, Garaci FG, Dallapiccola B, Jain M, Muenke M, Ng VC, Chan W, Chan D, Mundlos S (2011). Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. Am J Hum Genet. 88(1), 70-5. Abstract
Arcos-Burgos M, Jain M, Acosta MT, Shively S, Stanescu H, Wallis D, Domené S, Vélez JI, Karkera JD, Balog J, Berg K, Kleta R, Gahl WA, Roessler E, Long R, Lie J, Pineda D, Londoño AC, Palacio JD, Arbelaez A, Lopera F, Elia J, Hakonarson H, Johansson S, Knappskog PM, Haavik J, Ribases M, Cormand B, Bayes M, Casas M, Ramos-Quiroga JA, Hervas A, Maher BS, Faraone SV, Seitz C, Freitag CM, Palmason H, Meyer J, Romanos M, Walitza S, Hemminger U, Warnke A, Romanos J, Renner T, Jacob C, Lesch KP, Swanson J, Vortmeyer A, Bailey-Wilson JE, Castellanos FX, Muenke M (2010). A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication. Mol Psychiatry. 15(11), 1053-66. Abstract
Wellcome Trust Case Control Consortium, Craddock N, Hurles ME, Cardin N, Pearson RD, Plagnol V, Robson S, Vukcevic D, Barnes C, Conrad DF, Giannoulatou E, Holmes C, Marchini JL, Stirrups K, Tobin MD, Wain LV, Yau C, Aerts J, Ahmad T, Andrews TD, Arbury H, Attwood A, Auton A, Ball SG, Balmforth AJ, Barrett JC, Barroso I, Barton A, Bennett AJ, Bhaskar S, Blaszczyk K, Bowes J, Brand OJ, Braund PS, Bredin F, Breen G, Brown MJ, Bruce IN, Bull J, Burren OS, Burton J, Byrnes J, Caesar S, Clee CM, Coffey AJ, Connell JM, Cooper JD, Dominiczak AF, Downes K, Drummond HE, Dudakia D, Dunham A, Ebbs B, Eccles D, Edkins S, Edwards C, Elliot A, Emery P, Evans DM, Evans G, Eyre S, Farmer A, Ferrier IN, Feuk L, Fitzgerald T, Flynn E, Forbes A, Forty L, Franklyn JA, Freathy RM, Gibbs P, Gilbert P, Gokumen O, Gordon-Smith K, Gray E, Green E, Groves CJ, Grozeva D, Gwilliam R, Hall A, Hammond N, Hardy M, Harrison P, Hassanali N, Hebaishi H, Hines S, Hinks A, Hitman GA, Hocking L, Howard E, Howard P, Howson JM, Hughes D, Hunt S, Isaacs JD, Jain M, Jewell DP, Johnson T, Jolley JD, Jones IR, Jones LA, Kirov G, Langford CF, Lango-Allen H, Lathrop GM, Lee J, Lee KL, Lees C, Lewis K, Lindgren CM, Maisuria-Armer M, Maller J, Mansfield J, Martin P, Massey DC, McArdle WL, McGuffin P, McLay KE, Mentzer A, Mimmack ML, Morgan AE, Morris AP, Mowat C, Myers S, Newman W, Nimmo ER, O'Donovan MC, Onipinla A, Onyiah I, Ovington NR, Owen MJ, Palin K, Parnell K, Pernet D, Perry JR, Phillips A, Pinto D, Prescott NJ, Prokopenko I, Quail MA, Rafelt S, Rayner NW, Redon R, Reid DM, Renwick, Ring SM, Robertson N, Russell E, St Clair D, Sambrook JG, Sanderson JD, Schuilenburg H, Scott CE, Scott R, Seal S, Shaw-Hawkins S, Shields BM, Simmonds MJ, Smyth DJ, Somaskantharajah E, Spanova K, Steer S, Stephens J, Stevens HE, Stone MA, Su Z, Symmons DP, Thompson JR, Thomson W, Travers ME, Turnbull C, Valsesia A, Walker M, Walker NM, Wallace C, Warren-Perry M, Watkins NA, Webster J, Weedon MN, Wilson AG, Woodburn M, Wordsworth BP, Young AH, Zeggini E, Carter NP, Frayling TM, Lee C, McVean G, Munroe PB, Palotie A, Sawcer SJ, Scherer SW, Strachan DP, Tyler-Smith C, Brown MA, Burton PR, Caulfield MJ, Compston A, Farrall M, Gough SC, Hall AS, Hattersley AT, Hill AV, Mathew CG, Pembrey M, Satsangi J, Stratton MR, Worthington J, Deloukas P, Duncanson A, Kwiatkowski DP, McCarthy MI, Ouwehand W, Parkes M, Rahman N, Todd JA, Samani NJ, Donnelly P (2010). Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature. 464(7289), 713-20. Abstract
Wallis D, Arcos-Burgos M, Jain M, Castellanos FX, Palacio JD, Pineda D, Lopera F, Stanescu H, Pineda D, Berg K, Palacio LG, Bailey-Wilson JE, Muenke M (2009). Polymorphisms in the neural nicotinic acetylcholine receptor α4 subunit (CHRNA4) are associated with ADHD in a genetic isolate. Atten Defic Hyperact Disord. 1(1), 19-24. Abstract
Solomon BD, Lacbawan F, Jain M, Domené S, Roessler E, Moore C, Dobyns WB, Muenke M (2009). A novel SIX3 mutation segregates with holoprosencephaly in a large family. Am J Med Genet A. 149A(5), 919-25. Abstract
Jain M, Wallis D, Robin NH, De Vrieze FW, Hardy JA, Ghadami M, Bosse K, Betz RC, Nöthen MM, Arcos-Burgos M, Muenke M (2008). Locus homogeneity between syndactyly type 1A and craniosynostosis Philadelphia type? Am J Med Genet A. 146A(17), 2308-11. Abstract
Jain M, Palacio LG, Castellanos FX, Palacio JD, Pineda D, Restrepo MI, Muñoz JF, Lopera F, Wallis D, Berg K, Bailey-Wilson JE, Arcos-Burgos M, Muenke M (2007). Attention-deficit/hyperactivity disorder and comorbid disruptive behavior disorders: evidence of pleiotropy and new susceptibility loci. Biol Psychiatry. 61(12), 1329-39. Abstract
Jain M, Weaver DD (2004). Severe lower limb defects in exstrophy of the cloaca. Am J Med Genet A. 128A(3), 320-4. Abstract

Other Publications:

Wallis D, Lacbawan F, Jain M, Der Kaloustian VM, Steiner CE, Moeschler JB, Losken HW, Kaitila II, Cantrell S, Proud VK, Carey JC, Day DW, Lev D, Teebi AS, Robinson LK, Hoyme HE, Al-Torki N, Siegel-Bartelt J, Mulliken JB, Robin NH, Saavedra D, Zackai EH, Muenke M. Additional EFNB1 mutations in craniofrontonasal syndrome. Am J Med Gen A. 146A(15):2008-2012, 2008.

Premkumar MH, Sule G, Nagamani SC, Chakkalakal S, Nordin A, Jain M, Ruan MZ, Bertin T, Dawson B, Zhang J, Schady D, Bryan NS, Campeau PM, Erez A, Lee B. Am J Physiol Gastrointest Liver Physiol. 2014. 307 347-54. 

Bellur S*, Jain M*, Cuthbertson D, Krakow D,. Shapiro JR, Steiner RD,.Smith PA,. Bober MB, Hart T, Krischer J, Durigova M, Glorieux FH, Rauch F, Sutton VR, Lee BH, Nagamani, SCS. A Multicenter Study of Osteogenesis Imperfecta and Pregnancy Does Not Find a Difference in Fracture Rates Based on Delivery Method. Genet Med *authors contributed equally to this paper. 

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