Address:
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`Neal John Sondheimer, M.D. Ph.D.
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`
`
`PGCRL 12.9702
`The Hospital for Sick Children
`555 University Avenue
`Toronto, ON, M5G 1X8
`
`Date: 12/12/16
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`Education:
` Harvard University (Biology)
`1994 A.B.
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` University Of Chicago – Molecular Genetics and Cell Biology
`2000 Ph.D.
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` University of Chicago
`2002 M.D.
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` The University of Pennsylvania – Genetics
`2009 Postdoc
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`Postgraduate Training and Fellowship Appointments:
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`2002-2007
` Resident in Pediatrics, The Children's Hospital of Philadelphia
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`2002-2008
` Resident in Genetics, The Children's Hospital of Philadelphia
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`2007-2009
` Post-Doctoral Fellow, The University of Pennsylvania
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`Faculty Appointments:
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`2002-2005
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`2007-2009
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`2009-2015
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`2015-present
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`2013-2014
`2014-2015
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`2014-2015
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` Instructor-B, The University of Pennsylvania
` Clinical Associate in Pediatrics, The University of
`Pennsylvania
` Assistant Professor of Pediatrics, University of Pennsylvania
`School of Medicine
` Assistant Professor of Paediatrics, The University of Toronto
`School of Medicine
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`Hospital and/or Administrative Appointments:
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`2006-2015
` Attending Physician, The Children's Hospital of Philadelphia
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`2012-2013
` Co-Director, Palmieri Metabolic Lab - The Children's Hospital
`of Philadelphia
` Assistant Program Director, Genetics Residency Programs
` Program Director, Medical Genetics, The Children's Hospital
`of Philadelphia and The University of Pennsylvania
` Training Director - Clinical Biochemical Genetics, The
`Children's Hospital of Philadelphia
` Staff Physician, SickKids
`Member, Research Ethics Board, SickKids
`Residency Training Committee (Genetics), SickKids
`Interim Program Director (Genetics), SickKids
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`2015-present
`2015-2016
`2016-present
`2017
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`Other Appointments:
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`2008-2012
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`2012-2014
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` Co-Director, Mitochondrial Research Affinity Group, The
`Children’s Hospital of Philadelphia
`Trustee Committee on Facilities and Campus Planning
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`Neal John Sondheimer, M.D. Ph.D.
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`Specialty Certification:
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`2006
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`2007
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`2009
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` American Academy of Pediatrics
` American Board of Medical Genetics - Clinical Genetics
` American Board of Medical Genetics - Clinical Biochemical
`Genetics
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`Licensure:
` Commonwealth of Pennsylvania
`2004-2016
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` The College of Physicians and Surgeons of Ontario
`2015-present
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`Awards, Honors and Membership in Honorary Societies:
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`2012
` Society for Pediatric Research
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`2013
` Young Physician-Scientist Award - American Society for
`Clinical Investigation
` Outstanding Speaker Award - American Association of
`Clinical Chemistry
`Resident Teaching Prize (Genetics), SickKids
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`2014
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`2015
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`Memberships in Professional and Scientific Societies and Other Professional Activities:
` International:
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`2013-Present
`2016-Present
`2016-Present
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` National:
`2006-present
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`Major Academic and Clinical Teaching Responsibilities:
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`2005-2013
` Lecturer - Pediatrics 200, UPenn SOM
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`2006-2013
` Lecturer - MOD1006 (Medical Genetics), UPenn SOM
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`2010-2012
` Research Mentor (Genetics residency) - Kristin D'Aco
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`2010
` Center for Neurodegenerative Disease Research Lecture Series -
`"The influence of aging on mitochondrial heteroplasmy"
` Genes Genomes and Pediatric Disease Retreat Seminar -
`"Mitochondrial heteroplasmy and the influence of aging"
` Neonatology Grand Rounds - "Inheritance and
`Unpredictability:_Mitochondrial Heteroplasmy and Its Role in
`Disease"
` Genes Genomes and Pediatric Disease Seminar - "Use of the HSP2
`promoter in mitochondrial transcription"
` Laura Dribin Mitochondrial Symposium - Course Faculty
` CHOP Research Scientific Symposium - Lecture
` Grand Rounds - The Children's Hospital of Philadelphia - "Exome
`Sequencing for Pediatric Disorders"
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`ASBMB
`North American Metabolic Academy (Faculty)
`SSIEM
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`Society for Inherited Metabolic Disorders
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`2010
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`2011
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`2011
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`2012
`2012
`2012
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`Neal John Sondheimer, M.D. Ph.D.
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` Lecturer - CAMB605, University of Pennsylvania SOM
`Lecturer – MGY470, University of Toronto
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`2013-2014
`2015-2016
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` Alternative Media:
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`1. The Health Show - #1310. The Health Show (NPR) May 2013.
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`2. "Chromosomal and Genetic Disorders" Board Review Pediatrics Series. Audio Digest
`Foundation, 13, 2014.
`3. “Three Parent Embryos” – The National (CBC), September 27th, 2016
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` Patents:
` Recombinant prion-like proteins and materials comprising same. USA Patent Number
`7,569,660, 2009.
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`Neal John Sondheimer, M.D. Ph.D.
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`Page 4
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`PUBLICATIONS (2012-2016):
`1. Ahrens-Nicklas, R, Umanah, G., Sondheimer, N., Deardorff, M., Wilkens, A., Conlin, L.,
`Santani, A., Nesbitt, A., Juulsola., J et al. (2016). Precision therapy for a new disorder of AMPA
`receptor recycling due to mutations in ATAD1. Neurol. Genet. in press.
`2. Assoum, M., Philippe, C., Isidor, B., Perrin, L., Makrythanasis, P., Sondheimer, N., Paris, C.,
`Douglas, J., Lesca, G., Antonarakis, S., et al. (2016). Autosomal-Recessive Mutations in AP3B2,
`Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic
`Encephalopathy with Optic Atrophy. Am. J. Hum. Genet. in press (10.1016/j.ajhg.2016.10.009)
`3. Bhoj, E., Li, M., Ahrens-Nicklas, R., Pyle, L., Wang, J., Zhang, V., Clarke, C., Wong, L.,
`Sondheimer, N., Ficicioglu, C., et al. (2015). Pathologic Variants of the Mitochondrial
`Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal
`Myopathy Phenotype With and Without Lactic Acidosis. JIMD Rep. 19, 59–66.
`4. Clarke, C., Xiao, R., Place, E., Zhang, Z., Sondheimer, N., Bennett, M., Yudkoff, M., and Falk,
`M.J. (2013). Mitochondrial respiratory chain disease discrimination by retrospective cohort
`analysis of blood metabolites. Mol. Genet. Metab. 110, 145–152.
`5. D’Aco, K.E., Manno, M., Clarke, C., Ganesh, J., Meyers, K.E.C., and Sondheimer, N. (2013).
`Mitochondrial tRNA(Phe) mutation as a cause of end-stage renal disease in childhood. Pediatr.
`Nephrol. 28, 515–519.
`6. Gai, X., Ghezzi, D., Johnson, M.A., Biagosch, C.A., Shamseldin, H.E., Haack, T.B., Reyes, A.,
`Tsukikawa, M., Sheldon, C.A., Srinivasan, S., Sondheimer, N. et al. (2013). Mutations in
`FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.
`Am. J. Hum. Genet. 93, 482–495.
`7. Ganetzky, R., Finn, E., Bagchi, A., Zollo, O., Conlin, L., Deardorff, M., Harr, M., Simpson, M.,
`McGrath, J., Zackai, E., Lemmon, MA., Sondheimer, N. (2015). EGFR mutations cause a lethal
`syndrome of epithelial dysfunction with progeroid features. Mol. Genet. Genomic Med. 3, 452–
`458.
`8. Grant, S.F.A., Glessner, J.T., Bradfield, J.P., Zhao, J., Tirone, J.E., Berkowitz, R.I., Hakonarson,
`H., and Sondheimer, N. (2012). Lack of relationship between mitochondrial heteroplasmy or
`variation and childhood obesity. Int. J. Obes. (Lond). 36, 80–83.
`9. Schadt, E.E., Banerjee, O., Fang, G., Feng, Z., Wong, W.H., Zhang, X., Kislyuk, A., Clark, T.A.,
`Luong, K., Keren-Paz, A., Sondheimer, N. et al. (2013). Modeling kinetic rate variation in third
`generation DNA sequencing data to detect putative modifications to DNA bases. Genome Res.
`23, 129–141.
`10. Seifert, E.L., Ligeti, E., Mayr, J.A., Sondheimer, N., and Hajnóczky, G. (2015). The
`mitochondrial phosphate carrier: Role in oxidative metabolism, calcium handling and
`mitochondrial disease. Biochem. Biophys. Res. Commun. 464, 369–375.
`11. Seifert, E.L., Gál, A., Acoba, M.G., Li, Q., Anderson-Pullinger, L., Golenár, T., Moffat, C.,
`Sondheimer, N., Claypool, S.M., and Hajnóczky, G. (2016). Natural and induced mitochondrial
`phosphate carrier loss: differential dependence of mitochondrial metabolism and dynamics, and
`cell survival, on the extent of depletion. J. Biol. Chem. jbc.M116.744714.
`12. Sondheimer, N. (2013). Newborn Screening by Sequence and the Road Ahead. Clin. Chem. 59,
`1011–1013.
`13. Sondheimer, N., Soundararajan, S., Koutzaki, S.H., and Doyle, A.M. (2014). Kidney
`transplantation from a deceased donor with metachromatic leukodystrophy. Transplantation 97,
`e42-4.
`14. Sondheimer, N., Zollo, O., Van Deerlin, V., and Trojanowski, J.Q. (2014). Analysis of
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`Neal John Sondheimer, M.D. Ph.D.
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`cerebrospinal fluid mitochondrial DNA levels in Alzheimer disease. Ann. Neurol. 75, 458–460.
`15. Spinale, J.M., Laskin, B.L., Sondheimer, N., Swartz, S.J., and Goldstein, S.L. (2013). High-dose
`continuous renal replacement therapy for neonatal hyperammonemia. Pediatr. Nephrol. 28, 1–4.
`16. Vergano, S.A., Crossette, J.M., Cusick, F.C., Desai, B.R., Deardorff, M.A., and Sondheimer, N.
`(2013). Improving surveillance for hyperammonemia in the newborn. Mol. Genet. Metab. 110,
`102–105.
`17. Zollo, O., Tiranti, V., and Sondheimer, N. (2012). Transcriptional requirements of the distal
`heavy-strand promoter of mtDNA. Proc. Natl. Acad. Sci. U. S. A. 109, 6508–6512.
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`Lectures by Invitation (Last 5 years):
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`Oct, 2012
` "The Somatic Stability of MtDNA in Aging and Disease,"
`Department of Epidemiology, Harvard School of Public Health
` "Regulation of Mitochondrial Transcription - Many Promoters and
`More Players," Department of Pharmacological Sciences, Stony
`Brook University
` "Regulating the Power Supply through Mitochondrial
`Transcription", Department of Biochemistry and Molecular Biology,
`The Pennsylvania State University
` "Defects of mitochondrial phosphate transport," Thomas Jefferson
`University
` "Newborn Screening in the Era of Genomic Medicine" - American
`Association of Clinical Chemistry Meetings - Chicago
` "Mechanisms of Mitochondrial Disease", Division of Human
`Genetics, SickKids, Toronto
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`Oct, 2012
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`Jun, 2013
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`May, 2014
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`Jul, 2014
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`Nov, 2014
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`11/01/14-10/31/19
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`GRANTS HELD (2002-2006)
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`Ongoing Research Support
`Transdisciplinary Research Center for Preterm Birth
`PI: Deborah Driscoll
`The Transdisciplinary Research Center for Preterm Birth investigates metabolic and environmental cues
`leading to preterm birth. I lead the team responsible for examining the effect of somatic and inherited
`mitochondrial mutations upon the risk for preterm birth.
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`Department of Paediatrics Funding
`9/01/15-8/31/18
`PI: Neal Sondheimer
`Unrestricted startup fund.
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`SickKids Center For Genomic Medicine Award
`PI: Neal Sondheimer
`Funding for the development of techniques for the analysis of mitochondrial sequence.
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`Completed Research Support
`09/01/12-06/30/16
`R01ES021733 Andrea Baccarelli
`Molecular and Epigenetic Mitochondriomics of Air Particles, Lead and Cognition
`This subproject will investigate mitochondrial heteroplasmy and DNA damage in the MOBILIZE cohort as part
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`9/01/15-8/31/18
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`Neal John Sondheimer, M.D. Ph.D.
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`Page 6
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`05/01/09-04/30/14
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`of a larger study on the effects of pollution and aging upon cognition and epigenetics.
`Role: Co-investigator
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`12/01/12-08/31/15
`R01DK092318 Mitchell Weiss
`Regulation of erythropoiesis by the miR-144/451 microRNA locus
`Funding to support studies of the effect of microRNA in the development of hematopoiesis with a focus on the
`role of these miRNA in altering programs of mitochondriogenesis.
`Role: Co-Investigator
`
`1K08HD058022-01A1
`PI: Neal Sondheimer
`Mitochondrial Transcription and Pediatric Disease
`This career development award is in support of the primary investigator's efforts to establish his career as a
`physician scientist studying the effects of mitochondrial disease upon mitochondrial transcription.
`
`Foerderer Foundation for Excellence
`PI: Neal Sondheimer
`Study of the role of EGFR mutations in a form of neonatal progeria
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`AANIRG-12-214360
`PI: Neal Sondheimer
`Alzheimer's Disease and the destabilization of the mitochondrial genome.
`This award supports studies of region specific changes in mitochondrial DNA sequence and base modification
`in Alzheimer's disease.
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`5P30AR057217-04
`PI: John Stanley
`Skin Disease Research Center Pilot
`This award examines the role of somatically acquired mutations in the development and metastasis of
`squamous cell carcinoma.
`Role: Pilot Awardee
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`5P30HD026979-23
`PI: Marc Yudkoff
`Intellectual and Developmental Disabilities Research Center
`This grant will explore the development of pluripotent stem cell lineages from patients with mitochondrial
`disorders for therapeutic use.
`Role: Pilot Awardee
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`07/01/14-06/30/15
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`09/01/12-08/30/14
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`07/01/13-07/01/14
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`07/01/11-06/30/13
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