2013 NUCDF Virtual Conference

Selected Speaker Bios

blee2Brendan Lee, M.D., Ph.D.

Principal Investigator, Urea Cycle Disorders Consortium (UCDC)

Investigator, Howard Hughes Medical Institute

Robert and Janice McNair Endowed Chair in Molecular and Human Genetics
Professor, Department of Human & Medical Genetics

Baylor College of Medicine, Houston, Texas

Dr. Lee is a leading UCD researcher and authority on clinical management of urea cycle disorders. Dr. Lee’s research in molecular genetics and urea cycle disorders has been published in leading medical journals. He has received numerous honors and awards, including  recognition as one of the nation’s top physician-scientists via his appointment as an Investigator to the prestigious Howard Hughes Medical Institute, serving as one of an elite group of 12 researchers to  improve the translation of  basic science discoveries into enhanced treatments for patients.  He serves as a member of numerous academic and research study committees, including National Institutes of Health Gene Therapy and Inborn Errors, Graduate Programs in Genetics, Cell and Molecular Biology at Baylor, and as Director of Medical Students Research Track at Baylor.  Dr. Lee is a collaborator in the Urea Cycle Disorders Consortium as primary investigator (PI) for several important UCD research projects at the Baylor site. His pioneering work on the role of nitric oxide in the urea cycle has made a significant contribution to general science and human health, published in Nature Medicine in 2012. Dr. Lee is dedicated to expanding the understanding of the pathophysiology of UCDs and development of new treatments.  He serves on many professional boards, and is an invaluable member of the NUCDF Medical Advisory Board.

Gropman_AAndrea Gropman, M.D.

Principal Investigator, Urea Cycle Disorders Research Consortium (UCDC)

Chief, Division of Neurodevelopmental Disabilities and Neurogenics

Principal Investigator, Children’s Research Institute

Children’s National Medical Center, Washington DC


Dr. Gropman is a rare combination – a child neurologist and clinical geneticist. After completing her residency training in Pediatrics at Johns Hopkins Hospital, she completed fellowships in neurology and Child Neurology at George Washington University and the Children’s National Medical Center, and clinical genetics at the National Human Genome Research Institute. This was followed by a position as a senior staff fellow in the Intramural Research Program at the National Institutes of Neurological Disorders and Stroke (NINDS) at the National Institutes of Health (NIH) in Bethesda, MD, where she was funded by a Howard Hughes Medical Institute physician postdoctoral award. During this time, she was actively involved in basic research, in the study of genetic pathways involved in neuronal migration disorders, and participated as coinvestigator and/or consultant for a number of clinical protocols in the NIH clinical center with focus on neurologic phenotypes in neurometabolic and genetic disorders. She directed the neurogenetics clinic at the Children’s National Medical Center. In August of 2003, she joined the pediatrics and neurology faculty at Georgetown University. In August of 2006, she joined the neurology department of Children’s National Medical Center. Her research interest focuses on establishing biomarkers of neurological injury in patients with inborn errors of metabolism using specialized neuroimaging modalities at CMFI and in collaboration with researchers at the California Institute of Technology and the Kennedy Krieger Institute in Baltimore, MD. Her work as an investigator for the Urea Cycle Disorders Consortium has resulted in pioneering research studies using these modalities in OTC deficiency. She hopes to use these biomarkers to better characterize and understand the mechanisms of neurologic injury in urea cycle disorders and to accelerate the development of neurotherapeutics to protect against or prevent brain injury in UCD. Dr. Gropman is a committed advocate, serving on the advisory boards of several rare disease organizations, including our NUCDF Medical Advisory Board.

Peter J. McGuire, M.S., M.D.

Genetic Disease Research Branch

National Human Genome Research Institute

National Institutes of Health, Bethesda, Maryland

Dr. is a Physician-Scientist at the National Human Genome Research Institute (NHGRI) in Bethesda and Principal Investigator for the NIH Urea Cycle Disorders Nutrition and Immunity Study. Dr. McGuire received his medical degree with honors from the Royal College of Surgeons in Ireland. He completed a combined Pediatrics/Medical Genetics Residency and Biochemical Genetics Fellowship at Mount Sinai Medical Center. After completing residency, he stayed on at Mount Sinai as an Assistant Professor in the Department of Genetics and Genomic Sciences and as Attending Physician in the Program for Inherited Metabolic Disorders. As a recipient of the 2008 Genzyme/American College of Medical Genetics Fellowship in Biochemical Genetics and Children’s Health Research Center Scholar (2008-2010), Dr. McGuire’s research focused on the areas of oxidative stress and inflammation in inborn errors of metabolism, and urea cycle disorders and respiratory viral infection.  In 2011, Dr. McGuire was accepted into the Physician-Scientist Development Program at NHGRI for his proposal on the relationship between urea cycle disorders, nutrition and immunity. This proposal is the basis for The NIH UNI Study (Urea cycle Disorders, Nutrition and Immunity), as well as the translational work on urea cycle disorders performed in his laboratory. He is currently working on a mouse model that allows him to study immune system function in inborn errors of metabolism.

Susan Waisbren, Ph.D.

Associate Professor of Psychology, Harvard Medical School

Psychologist, Metabolic Service,

Children’s Hospital, Boston, Massachusetts

Dr. Waisbren is the lead psychologist for the Urea Cycle Disorders Consortium, and psychologist at the Clinic for Inborn Errors of Metabolism and Phenylketonuria (PKU) in the Developmental Evaluation Clinic and the Division of Genetics at the Children's Hospital, Boston. Dr. Waisbren received her Ph.D. in Clinical Psychology from the University of California, Berkeley. Dr. Waisbren directs a research program on the behavioral and developmental aspects of phenylketonuria and other inborn errors of metabolism. She has been a leader in developing national and international networks to address the needs of youngsters and their families with inborn errors of metabolism. Dr. Waisbren has authored and coauthored many articles in publications such as the Journal of the American Medical Association (JAMA), Molecular Genetics and Metabolism, American Family Physician, and the New England Journal of Medicine. She is also a member of numerous professional organizations, including the American Psychological Association and the Society for Inherited Metabolic Disorders. In addition, Dr. Waisbren is the founding director of the New England Consortium of Metabolic Programs and is on the Board of the New England Connection for PKU and Allied Disorders. She recently organized the Genetics and Metabolism Psychology Network, which will bring psychologists interested in metabolic and genetic disorders together, with the goal of better describing the psychological aspects of these conditions, establishing guidelines for a core assessment battery, and developing educational tools for families and teachers.

Uta Lichter-Konecki, M.D.

Principal Investigator, Urea Cycle Disorders Consortium (UCDC)

Director, Metabolism Program

Children’s National Medical Center, Washington DC


Uta Lichter-Konecki, MD, PhD, is director of the Metabolism Program at Children’s National Medical Center. Dr. Lichter-Konecki joined the staff of Children’s in 2003. She is currently the site director of the Longitudinal Study of Urea Cycle Disorders at Children’s National and has initiated a study regarding the effect of hypothermia treatment in hyperammonemic encephalopathy. She received her postgraduate degree form the University of Heidelberg, Germany and trained in metabolic diseases at Children’s Hospital in Heidelberg, an international center for inborn errors of metabolism. Her research interest is the prevention of mental retardation in patients with metabolic diseases through translational research and improvement of treatment. In Germany her research focused on PKU, the first metabolic disease in which brain damage could be prevented by a protein restricted diet. Dr. Lichter has published her work in leading medical journals. She has been teaching medical students about metabolic diseases and teaches fellows in the Medical Genetics Training Program at the National Human Genome Research Institute (NHGRI), NIH. She is active in the New York Mid Atlantic Consortium for Genetic and Newborn Screening Services. Dr. Lichter is committed to improving the life of patients with UCDs through progressive translational research, innovative clinical research, and excellence in clinical care.

Renata Gallagher, M.D., Ph.D.

Principal Investigator, Urea Cycle Disorders Research Consortium

Assistant Professor, Pediatrics, Department of Clinical and Medical Genetics

University of Colorado School of Medicine

Children’s Hospital Colorado, Aurora, Colorado

Dr. Gallagher specializes in clinical care of patients with urea cycle disorders and other inborn errors of metabolism at Children’s Hospital Colorado.  She has been at Children’s Colorado since 2006.  She trained in Genetics and Biochemical Genetics at Stanford Medical Center in California, and trained in Pediatrics in Seattle at the University of Washington.  She is the local site Principal Investigator at Children’s Colorado for the Longitudinal Study of Urea Cycle Disorders, one of the studies of the Urea Cycle Disorders Consortium.  As a result of her work with the Consortium she has been able to pursue focused research in urea cycle defects.  She is currently investigating liver abnormalities in urea cycle disorders.

Sandesh Chakravarthy Sreenath Nagamani, MBBS, M.D.

Assistant Professor, Department of Molecular and Human Genetics

Baylor College of Medicine, Houston, Texas

Dr. Nagamani is board-certified in both internal medicine and medical and clinical genetics.  He received his MD from the University of Mysore in Karnataka, India, and completed internships and residencies at Gandhi Medical College in India, the Cleveland Clinic in OH, and at Baylor. Dr. Nagamani is a favorite of UCD families being followed in the Baylor Genetics Clinic.  He was the recipient of the 2011 National Urea Disorders Foundation (NUCDF) Fellowship Award to continue pioneering research on nitric oxide (NO) in ASA deficiency started in Dr. Lee’s lab by two previous NUCDF Fellowship Awardees in 2009 and 2010, Dr. Ayelet Erez and Dr. Oleg Shchelochkov. Dr. Nagamani’s landmark work with his colleagues was recently published in the prestigious scientific journal, Nature Genetics, reporting the critical implications of the study on general science and human health. He was recently awarded the Doris Duke Clinical Scientist Development Award for his work pertaining to the nitric oxide in ASA clinical trial.

Debra Hook Debra Geary-Hook, M.S., R.D., M.P.H.

Metabolic Dietician

Children’s Hospital of Los Angeles, California

Ms. Hook served for many years as metabolic dietician at Loma Linda Children’s Hospital in San Bernardino County, CA and metabolic dietitian and clinic coordinator for the UC Irvine Metabolic Team Center in Irvine, California. She is currently metabolic dietician at Miller Children’s Hospital in Long Beach, CA and the Department of Gastroenterology at Children’s Hospital Los Angeles. She received Bachelor’s degrees from Cal State University Chico in Nutrition and Social Psychology, and holds Master’s degrees in nutrition and health education from Loma Linda University.  Ms. Hook is also certified in nutrition support (CNSD), pediatric nutrition (CSP), health education (CHES) and lactation education (CLE), and has lectured on nutrition and health education at Cal Poly Pomona. Ms. Hook has the distinction of being named Region Five Nutrition Educator of the Year by the American Dietetic Association.  She has many years of experience managing children with urea cycle disorders.  She is always a favorite of our families when she speaks at NUCDF conferences, is a contributing author to our newsletters, and will be leading new research studies on the role of nutrition in outcomes for urea cycle disorders. Ms. Hook serves on the Education and Technology committees of Genetic Metabolic Dieticians International, and is a valuable member of our NUCDF Medical Advisory Board.  “Deb” generously devotes volunteer time to assist our UCD families and their nutritionists with difficult management issues.

Greg M. Enns, M.D.

Director, Biochemical Genetics Program

Lucile Packard Children's Hospital

Associate Professor

Stanford University of Medicine

Palo Alto, California

Dr. Enns is an Associate Professor of Pediatrics and has been Director of the Biochemical Genetics Program at Stanford University since 1998.  He was trained in clinical genetics and clinical biochemical genetics at the University of California, San Francisco, graduating from the program in 1998.  Dr. Enns has also directed the California Department of Health Services Newborn Screening Area Service Center for Northern California since 2003.  He serves on the Board of Directors of the Society for Inherited Metabolic Disease and actively supports the National Urea Cycle Disorders and United Mitochondrial Disease Foundations.  As a clinician, he cares for patients who have a broad range of metabolic disorders and focuses on diagnosing and managing those with urea cycle defects, aminoacidemias, organic acidemias, mitochondrial disorders, and lysosomal storage disorders.  His current research involves the development of a panel of sensitive blood biomarkers of redox imbalance, using tandem mass spectrometry and Hi-D FACS, so that patients who have mitochondrial dysfunction can be detected and monitored non-invasively.  He is most interested in developing clinical trials for patients with metabolic disorders, and has a particular interest in novel therapeutics.   

Soledad Kleppe, M.D., Ph.D.

Clinical Geneticist, CEMIC (Centro de Educacion Medico e Investigaciones Clinicas), Buenos Aires, Argentina

Dr. Kleppe was born in Buenos Aires, Argentina.  She attended school in Argentina and received her medical training at Universidad del Salvador, in Buenos Aires, Argentina.  Dr. Kleppe did her pediatric residency in Hospital de Niños Ricardo Gutierrez in Buenos Aires.  She went to the United States to complete her clinical and bichemical genetics fellowship at Baylor College of Medicine, in Houston, Texas, under the mentorship of Dr. Brendan Lee.  After her fellowship, Dr. Kleppe returned to Argentina to serve the inborn error of metabolism patient community in her country.  Dr. Kleppe’s research interest is urea cycle disorders.  She is currently head of the Metabolic unit of Hospital de Niños Ricardo Gutierrez and Hospital Italiano de Buenos Aires. Dr. Kleppe works closely with NUCDF to support UCD families in South America in need of expert medical care.


Urea Cycle Disorder Family

No matter what language you speak, Together, we can conquer UCD!

Juntos, somos una familia!
Ensemble, nous pouvons vaincre UCD

Gemeinsam können wir erobern UCD

Μαζί, μπορούμε να κατακτήσουμε UCD

Insieme, possiamo conquistare UCD

Вместе мы можем победить UCD

Tillsammans kan vi erövra UCD

Saman getum við sigra UCD

UCD معا، يمكننا قهر


با هم، ما می توانیم UCD تسخیر

Conference Quick Links

Online Registration

Selected Speaker Bios

Resource Downloads

Conference Flyer

Program at a Glance

Contact us:

Email: 2013Conference@nucdf.org

Phone: (626)578-0833

Comments from our UCD online community:

"Looking forward to the virtual conference! I would like to hear about learning issues that the children may be facing and what therapies can be used to help improve their outcome. I always love the great nutrition tips, too!"

"I'd like to hear about the impact of UCD as we age - I think I am one of the oldest here in our group with OTC, I'm 54 years old."

"I'd been thinking we would have to wait a couple of years until our boys were older to attend a conference, but now we can attend virtually this year! Looking forward to it"

"The virtual conference is a great idea!"

"We are very much looking forward to the virtual conference and the wealth of information I know it will contain."

"Can't wait!"

Let us know what you want to hear about at the conference: 2013conference@nucdf.org

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