BIOGRAPHICAL SKETCH
Provide the following information for the key personnel and other significant contributors in the order listed on Form Page 2.
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Judith L. Ross, M.D.
eRA COMMONS USER NAME: jxr003
POSITION TITLE
Professor
Department of Pediatrics
EDUCATION/TRAINING (Begin with baccalaureate or other initial professional education, such as
nursing, and include postdoctoral training.)
DEGREE
INSTITUTION AND LOCATION
YEAR(s)
FIELD OF STUDY
Wellesley College, Wellesley, Mass.
U. of Chicago Pritzker School of Medicine
B.A.
M.D.
1972
1977
Molecular Biology
Medicine
A. Personal Statement: I am a tenured Professor of Pediatrics at Thomas Jefferson University (TJU), CoDirector of the Center for Clinical Pediatric Research (NIH/NIGMS) at Nemours/DuPont Hospital for Children
(Nemours/ AIDHC), and Director of the Nemours/AIDHC EXtraordinarY Kids Clinic (for children with X and Y
chromosome variations). Nemours/ AIDHC in Wilmington, Delaware is one of the largest pediatric
network/research organizations in the country and is the pediatric hospital for TJU. My role in this project will
be to serve as co-PI (MPI), together with Dr. Allan Reiss (PI). My qualifications include board certification in
Pediatrics and Pediatric Endocrinology and Good Clinical Practice (GCP) certification. I have over 25 years of
NIH-funded pediatric research experience, focused on endocrine and neurodevelopmental outcomes in
children with X and Y chromosome disorders (XYY syndrome, Klinefelter syndrome, Turner syndrome).
Results of this research has elucidated neurophysiological, pathological, and molecular genotype-phenotype
relationships, and the role of selected X and Y genes in children in health and disease. My experience in
translating results from clinical trials into patient-centered algorithms that improve clinical outcomes is
demonstrated by our publication in the New England Journal of Medicine of results of a clinical trial, suggesting
a new approach to earlier estrogen replacement in girls with Turner syndrome. As an active clinical researcher,
I have partnered with patients and families, and other stakeholders, have spoken at national meeting, and
serve on advisory boards of the advocacy organizations (AXYS [Klinefelter syndrome, XYY syndrome]). I
currently serve as a member of the AXYS Clinic and Research Consortium. Dr Reiss and I have collaborated
for the past 15 years, have published 9 papers together, and have collaborated on 3 NIH RO1 grants. Together
with Dr. Reiss, I will manage the day-to-day activities of the DE site including recruiting eligible patients,
implementing the protocol, collecting and interpreting the results, participating in video/teleconferences with Dr.
Reiss and the research staff to discuss data collection and analysis, and participating in meetings, manuscript
preparation and presentations.
Board Certification
1982
1983
Board Certification, American Academy of Pediatrics, Number 27501.
Board Certification, Pediatric Endocrinology, Number 358.
B. Positions and Honors
1977-1980
1980-1983
1983-1990
1990-1992
1993-present
1993-present
2008-2011,
2016-present
2015-present
2015-present
Resident in Pediatrics, Children's Hospital of Philadelphia
Clinical Associate, National Institute of Child Health and Human Development
Assistant Professor, Associate Professor, Hahnemann University
Associate Professor, Professor, The Medical College of Pennsylvania
Professor with Tenure, Thomas Jefferson University
Division Chief, Pediatric Endocrinology, Thomas Jefferson University
Co-Director, Center for Clinical Pediatric Research, Nemours/duPont Hospital for
Children
Clinical Associate, Nemours/DuPont Hospital for Children
Director, Extraordinary Kids Clinic Nemours/DuPont Hospital for Children
Honors
1990
2008-2012
2010-2012
2010-2014
2011-2013
2014, 2012
2006-2013
2014-present
Basil O’Connor Award from the March of Dimes
Editor: PREP Pediatric Endocrinology Self-Assessment Program, American Academy of
Pediatrics
Delaware Health Science Alliance Coordinating Committee
Delaware State Birth Defects/Autism Steering Committee
Section Editor, BMC Pediatrics, BioMed Central Publisher
Best Docs for Kids, Philadelphia Magazine, Main Line Magazine
Medical Advisory Board of the Turner Syndrome Society of the US, Chair in 2009
Medical Advisory Board of the AXYS (Klinefelter syndrome and XYY) advocacy group
Honorary Societies
Sigma Xi
Endocrine Society
Lawson Wilkins Pediatric Endocrine Society
Society for Pediatric Research
American Pediatric Society
Study Section Membership
2016-present
NIH ZRG1 BDCN Developmental Brain Disorders
C. Contribution to Science
I. My research goals have been to dissect the clinical, genetic, and neurobiological pathways related to X
and Y chromosome disorders including Klinefelter syndrome (47,XXY), XYY syndrome, and Turner syndrome.
For the male X-chromosome disorder, Klinefelter syndrome, I successfully initiated and completed a recent
NINDS-funded clinical trial investigating the effects of early androgen replacement on motor function, cognition,
and brain imaging. The results of this study will provide significant evidence-based recommendations about
childhood androgen replacement in boys with testicular failure and prevention of obesity and cardiovascular
morbidities in this at risk population. In boys with XYY, we hypothesized that the increased autism risk is
related to increased Y chromosome gene copy number and over-expression of Y-linked genes related to brain
development and function
Cognitive, behavioral, and neuroimaging phenotypes associated with Klinefelter syndrome
a.
b.
c.
d.
Ross JL, Roeltgen DP, Stefanatos G, Benecke R, Zeger MP, Kushner H, Ramos P, Elder FF, Zinn AR.
Cognitive and motor development during childhood in boys with Klinefelter syndrome. Am J Med Genet
A. 2008 Mar 15;146A(6):708-19. PubMed PMID: 18266239.
Zeger MP, Zinn AR, Lahlou N, Ramos P, Kowal K, Samango-Sprouse C, Ross JL. Effect of
ascertainment and genetic features on the phenotype of Klinefelter syndrome. J Pediatr. 2008
May;152(5):716-22. PubMed PMID: 18410780.
Bryant DM, Hoeft F, Lai S, Lackey J, Roeltgen D, Ross J, Reiss AL. Neuroanatomical phenotype of
Klinefelter syndrome in childhood: a voxel-based morphometry study. J Neurosci. 2011 May
4;31(18):6654-60. PubMed PMID: 21543594; PubMed Central PMCID: PMC3148194.
Hong, D, Hoeft, F, Marzelli, M, Lepage, J, Roeltgen, D, Ross, J, Reiss, A. Influence of the Xchromosome on neuroanatomy: evidence from Turner and Klinefelter syndromes, Journal of
Neuroscience, 34(10): 3509-3516, 2014, PMID: 24599451, PMCID: PMC3942570
XYY as a homogeneous genetic model of Autism Spectum Disorder (ASD).
a.
b.
Cordeiro L, Tartaglia N, Roeltgen D, Ross J. Social deficits in male children and adolescents with
sex chromosome aneuploidy: a comparison of XXY, XYY, and XXYY syndromes. Res Dev Disabil.
2012 Jul-Aug;33(4):1254-63. PubMed PMID: 22502852; PubMed Central PMCID: PMC3328784.
Bardsley MZ, Kowal K, Levy C, Gosek A, Ayari N, Tartaglia N, Lahlou N, Winder B, Grimes S, Ross
JL. 47,XYY syndrome: clinical phenotype and timing of ascertainment. J Pediatr. 2013
Oct;163(4):1085-94. PubMed PMID: 23810129; PubMed Central PMCID: PMC4097881.
c.
d.
Lepage JF, Hong DS, Raman M, Marzelli M, Roeltgen DP, Lai S, Ross J, Reiss AL. Brain morphology
in children with 47, XYY syndrome: a voxel- and surface-based morphometric study. Genes Brain
Behav. 2014 Feb;13(2):127-34. PubMed PMID: 24308542; PubMed Central PMCID: PMC3918511.
Ross, JL, Tartaglia, N, Merry, DE, Dalva, M, Zinn, AR. Behavioral Phenotypes In Males With XYY and
Possible Role of Increased NLGN4Y Expression in Autism Features. Genes, Brain and Behavior, 2015
Jan 6. doi: 10.1111/gbb.12200. PubMed PMID: 25558953
II. As part of advisory panels and steering committees, I have participated in the development of Guidelines
and novel treatments of Klinefelter syndrome and Turner syndrome.
a.
b.
c.
d.
Bondy, CA for The Turner Syndrome Consensus Study Group. Clinical practice guideline: care
of girls and women with Turner syndrome: a guideline of the Turner syndrome study group.
Journal of Clinical Endocrinology and Metabolism, 92: 10–25, 2007 PMID: 17047017.
Ross JL, Quigley CA, Cao D, Feuillan P, Kowal K, Chipman JJ, Cutler GB Jr. Growth hormone plus
childhood low-dose estrogen in Turner's syndrome. N Engl J Med. 2011 Mar 31;364(13):1230-42.
PubMed PMID: 21449786; PubMed Central PMCID: PMC3083123.
Sas TC, Gault, EJ, Bardsley, MZ, Menke, LA, Freriks, K, Perry, RJ, Otten, BJ, de Muinck KeizerSchrama, SMPF, Timmers, H, Wit, JM, Ross, JL, Donaldson, MDC. Safety and efficacy of oxandrolone
in GH treated girls with Turner syndrome - evidence from recent studies and recommendations for use.
Hormone Research in Pediatrics, 81:289–297, 2014. PMID: 24776783.
Davis S, Howell S, Wilson R, Tanda T, Ross J, Zeitler P, Tartaglia N. Advances in the interdisciplinary
care of children with Klinefelter syndrome. Adv Pediatr. 2016 Aug;63(1):15-46. doi:
10.1016/j.yapd.2016.04.020. PMID: 27426894
III. I have over 25 years of NIH-, Department of Defense-, and pharmaceutical company-funded pediatric
research experience, involving pediatric clinical trial outcomes with high public health impact including
pre/postnatal outcomes (birth defects, childhood outcomes) and neurodevelopment [autism, social/behavioral
development, cognition] and have published in high impact journals. My experience in translating results from
clinical studies into patient-centered algorithms that will be integrated into public health practice is
demonstrated by the publications of important clinical trial results in children with Turner syndrome, Klinefelter
syndrome, obesity, or diabetes mellitus. These longitudinal and cross sectional trials have included site-based
and multi-centered studies, lasting from 1 to 17 years, are summarized below.
Clinical trials involving Neurodevelopment (genetic disorders, behavioral development, cognition) [X, Y
chromosomal disorders])
a.
b.
c.
d.
Ross JL, Quigley CA, Cao D, Feuillan P, Kowal K, Chipman JJ, Cutler GB Jr. Growth hormone plus
childhood low-dose estrogen in Turner's syndrome. N Engl J Med. 2011 Mar 31;364(13):1230-42.
PubMed PMID: 21449786; PubMed Central PMCID: PMC3083123.
Torres-Santiago, L, Mericq, V, Taboada, M, Unanue, N, Klein, KO, Sing,h R, Hossain J, Santen, R,
Ross, JL, Mauras, N. Metabolic effects of Oral vs. Transdermal 17β Estradiol (E2): a randomized clinical
trial in girls with Turner Syndrome. Journal of Clinical Endocrinology and Metabolism, DOI:
10.1210/jc.2012-4243, 2013. PMID: 23678038
Höybye, C, Sävendahl, L, Christesen, H, Lee, P, Pedersen, BT, Schlumpf, M, Germak, J, Ross, J. The
NordiNet® International Outcome Study and NovoNet® ANSWER Program®: rationale, design, and
methodology of two international pharmacoepidemiological registry-based studies monitoring long-term
clinical and safety outcomes of growth hormone therapy. Clinical Epidemiology, 5:119-127, 2013. PMID:
23658497, PMCID: PMC3641810
Blum, WF, Ross, JL, Zimmermann, AG, Quigley, CA, Child, CJ, Kalifa, G, Deal, C, Drop, SLS, Rappold,
G, Cutler, GB. GH treatment to final height produces similar height gains in patients with SHOX
deficiency and Turner syndrome: results of a multicenter trial. Journal of Clinical Endocrinology and
Metabolism, 98:E1383-92, 2013, PMID: 23720786.
IV. Innovative clinical trial designs based on electronic medical records
We have participated in studies using needs assessments based on EPIC electronic medical records, including
studies conducted with healthcare providers who treat growth disorders, novel approaches to identification of
determinants of childhood obesity, and stakeholder engagement in the design of web-based decision aids for
children with diabetes. The research approach included varied data collection methods (focus groups,
interviews, online survey) and analysis methodologies to improve access to relevant populations. I helped
develop The Turner syndrome Standardized Clinical Assessment and Management Plan (SCAMP) algorithm
(below), which will generate safety and effectiveness data, and will inform the most effective treatment
approaches.
a.
b.
c.
d.
Contextualized analysis of a needs assessment using the Theoretical Domains Framework: a case
example in endocrinology. Lazure P, Bartel RC, Biller BM, Molitch ME, Rosenthal SM, Ross JL,
Bernsten BD, Hayes SM. BMC Health Serv Res. 2014 Jul 24;14:319. doi: 10.1186/1472-6963-14-319.
PMID: 25060235
Ehrenthal DB, Maiden K, Rao A, West DW, Gidding SS, Bartoshesky L, Carterette B, Ross J, Strobino
D. Independent relation of maternal prenatal factors to early childhood obesity in the offspring. Obstet
Gynecol. 121(1):115-21, 2013. PMID: 23262935
Rosenfield RL, DiMeglio LA, Mauras N, Ross J, Shaw ND, Greeley SA, Haymond M, Rubin K, Rhodes
ET. Commentary: Launch of a quality improvement network for evidence-based management of
uncommon pediatric endocrine disorders: Turner syndrome as a prototype. J Clin Endocrinol Metab.
2015 Apr;100(4):1234-6. doi: 10.1210/jc.2014-3845. PMID: 25844763
Wysocki, T, Hirschfeld, F, Miller, L, Izenberg, N, Dowshen, S, Taylor, A, Milkes, A, Shinseki, M,T,
Bejarano, C, Kozikowski, C, Kowal, K, Starr-Ashton, P, Ross, JL, Kummer, M, Carakushansky, M,
Lyness, D, Brinkman, W, Pierce, J, Fiks, A, Christofferson, J, Rafalko, J, & Lawson, ML. (in press).
Consideration of Insulin Pumps or Continuous Glucose Monitors by Adolescents with Type 1 Diabetes
and Their Parents: Stakeholder Engagement in the Design of Web-Based Decision Aids. The Diabetes
Educator, doi:10.1177/0145721716647492, 2016. PMC 27150606
.
The link to my bibliography is as follows: (http://www.ncbi.nlm.nih.gov/sites/myncbi/judith.ross.1/
bibliography/44191956/public/?sort=date&direction= descending). My complete bibliography consists of 152
peer-reviewed manuscripts and 29 manuscripts, books and chapters.
D. Research Support.
Current Research Support
1. NIH/NICHD 1UG1HD090915-01 (PI: J.Ross) Delaware Nemours/duPont Hospital for Children Site for the
IDeA States Pediatric Clinical Trials Network, 9/21/16-8/31/20. The IDeA States Pediatric Clinical Trials
Network will function as one component of the overall Environmental influences on Child Health Outcomes
(ECHO) Program. 2. NIH/NIGMS 1P30GM114736-01 (PI: T Shaffer, co-I: J Ross) Center for Pediatric Research (CPR)
08/01/2015 – 07/31/2020. Project goals are development of pediatric translational research programs
3. AR140197 US Department of Defense CDMRP (T. Roberts, J. Ross, MPI) Neural correlates of the Y
chromosome in autism: XYY Syndrome as Genetic Model, 08/15/2015-08/14/2017. Project goals are to
evaluate the structural and functional determinants of autism in boys with 47,XYY.
4. NIH R01 HD04965305 (A. Reiss, P.I., J. Ross, Co-I.) Genes, Brain and Behavior in Turner Syndrome,
07/01/2012-06/30/2017. This grant evaluates brain structure and function in girls with TS.
5. Patient-Centered Outcomes Research Institute (PCORI) (T. Wysocki, Ph.D., P.I., J. Ross, Co-I.) Shared
Medical Decision Making in Pediatric Diabetes, 1/1/13 -12/31/16.
6. NIH R21 MH109158-01A1 (MPI: Roberts, Ross) Structural and Functional Characteristics of XYY Relationship to ASD, 04/01/16-3/31/18.
Selected Completed Research Support
1. NIH RO1 DK080831 (T. Wysocki, Ph.D., P.I., J. Ross, Co-I.) Use of Continuous Glucose Sensors in
Adolescents with Inadequate Diabetic Control, 5/1/11-11/30/15 [no cost extension]. This grant evaluates the
impact of continuous glucose monitoring on outcomes in Type I diabetes.
2. Thrasher Research Foundation (N. Mauras, P.I., J. Ross, Co-I) Randomized, Controlled Trial of the Use of
Aromatase Inhibitors, Alone and in Combination with Growth Hormone in Adolescent Boys with Idiopathic
Short Stature, 11/1/2010-6/31/2015.
3. NIH RO1 NS050597 (J.L. Ross, P.I.) Androgen effect on motor/cognitive outcome in Klinefelter syndrome,
5/1/06-4/30/2013.
4. NIH RO1 NS050597S3 (J.L. Ross, P.I., A. Reiss, Co-I) Androgen effect on brain structure/function in
Klinefelter syndrome,1/1/09-4/30/2013.
5. Delaware Health Sciences Alliance (DHSA) Pilot Grant. (J.L. Ross, P.I.) NLGN4Y Gene Dosage Effects in
Human and Cellular Models for Autism, 11/1/11-5/31/13.