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Recipients of the Judson Daland Prize

2009 AWARD - Josephs

Keith A. Josephs, M.S.T., M.D., M.S., Associate Professor of Neurology at the Mayo Clinic College of Medicine

in recognition of his work on clinical, pathological and imaging correlates of neurodegenerative and other neurological diseases.

Dr. Keith A. Josephs’ work has focused on correlating clinical manifestations with imaging and pathological findings in patients with neurodegenerative and other neurological diseases.  He has made significant contributions to deciphering the complexity of the pathologies underlying neurodegenerative diseases.  He has identified markers that allow the prediction of brain pathology in these patients, in order to provide definitive diagnosis and hence appropriate treatment.

In addition to his significant contributions to the field of neurodegenerative diseases, Dr. Josephs has made important patient-oriented research contributions in other neurological diseases.  Dr. Josephs identified, for the first time, an important association between dementia and celiac disease.  Similarly, based on a single patient encounter, which lead him to study Manganese neurotoxicity, he identified an association between exposure to welding fumes and the subsequent development of Parkinsonian features.  This finding has had a significant impact on welders by encouraging adequate protection with masks and proper ventilation.

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2009 AWARD - Orange

Dr. Jordan Orange, M.D., Ph.D., Director of the Jeffery Modell Diagnostic Center for Primary Immunodeficiency, Attending Physician, Division of Allergy and Immunology at the Children’s Hospital of Philadelphia, and Assistant Professor of Pediatrics at the University of Pennsylvania School of Medicine


in recognition of his work on congenital defects of innate immunity and natural killer cells.

 

Dr. Jordan Orange is a pioneer in understanding inborn human defects of the innate immune system.  In studies of human Natural Killer (NK) cell deficiencies he has found novel connections between inborn defects of the immune system and innate immunity.  These have defined paradigms in host defense and given rise to novel therapeutic approaches.

Over the past decade, Dr. Orange has studied human NK cell deficiencies in distinct genetic disorders of immunity.  In these diseases, he has been able to characterize NK cell biology on a mechanistic level.  For example in Wiskott-Aldrich syndrome, he has determined that cytoskeletal reorganization is impaired in NK cells leading to defective formation of the immunological synapse, the critical juncture between an immune cell and its target that enables immune function.  In Wiskott-Aldrich syndrome, this deficiency likely explains the atypical susceptibility to herpes viruses and hematologic malignancies.  He also identified a therapeutic means for bypassing the defect and restoring function of the immunological synapse in the cells of an afflicted patient.  He has recently used this finding to develop and initiate a phase-1 clinical trial with the ultimate objective of restoring NK cell activity and improving outcome in this difficult disease.  He has also identified defects of NK cells and innate immunity in NF-κB essential modulator deficiency.  In this rare disease, he has defined a novel connection between rapidly-induced protein function and innate immune defense, an insight that may not have been possible without studying this disorder.  Dr. Orange’s work has led him from bedside to bench and bench to bedside and has changed the understanding of NK cells, innate immunity and the complex immunologic diseases in which they are affected.
 

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2008 AWARD

Vamsi Krishna Mootha assistant professor and physician at Massachusetts General Hospital’s Center for Human Genetic Research; assistant professor at Harvard Medical School’s Department of Systems Biology and of Medicine; and senior associate member at the Broad Institute of the Massachusetts Institute of Technology and Harvard University
   

in recognition of his work on genomic approaches to human mitochondrial disorders.
 

Dr. Mootha has been a pioneer in the application of genomics and large-scale biological approaches to understanding the role of mitochondria in human diseases. Trained in mathematics, biochemistry, and internal medicine, Dr. Mootha has utilized a highly multidisciplinary and imaginative approach to systematically characterize the protein composition, gene expression, and assembly of the mitochondrion. He has made several landmark discoveries in mitochondrial medicine.
 

First, he has used proteomics and computational methods to identify 1100 nuclear encoded proteins that comprise human mitochondria. This effort required the development of new proteomics approaches as well as novel computational methodologies. He has integrated this information with linkage intervals for discovering the genes underlying Mendelian mitochondrial disorders, including Leigh syndrome French Canadian variant, hepatocerebral mtDNA depletion syndrome, and three complex I deficiencies.
 

Second, Dr. Mootha has discovered that the common form of type 2 diabetes is associated with a decline in the expression of mitochondrial genes. This high impact discovery required the development of Gene Set Enrichment Analysis, a computational tool for determining whether a pathway exhibits concordant changes in a profiling experiment. This method has been used by thousands of researchers for different biomedical problems.
 

Third, he is using computation and chemical biology to devise strategies for restoring mitochondrial function. He has devised clever computational methods to combine genome-scale expression measures with comparative genome sequence analysis to reconstruct the transcriptional circuits controlling mitochondrial biogenesis. These transcriptional circuits represent excellent drug targets, and Dr. Mootha is currently using a chemical genomics approach to target these factors to target them. Moreover, he is identifying plasma biomarkers of mitochondrial dysfunction, which can eventually be used to monitor the therapeutic response to newly identified drugs.

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2007 AWARD

Victor Velculescu of the Ludwig Center for Cancer Genetics and Therapeutics, Johns Hopkins University Kimmel Cancer Center for his work:

 

in the identification of diagnostic and therapeutic targets through genomic analyses of human cancer.
 

Dr. Velculescu’s work is focused on genomic analyses of human cancer. He has pinpointed PIK3CA as one of the most frequently mutated oncogenes in human cancer and has obtained the first draft sequence of the breast and colorectal cancer genomes. These discoveries have identified a wealth of genes important in tumorigenesis and provide new opportunities for individualized diagnostic and therapeutic approaches in human cancer.
 

Dr. Velculescu received his M.D. in medicine and his Ph.D. in human genetics and molecular biology from Johns Hopkins. Over the past decade he has developed several approaches to investigate genes important to neoplasia, and applied these approaches to systematic mutational analyses of cancer genomes. His genome-wide mutational analysis of breast and colorectal cancers suggested that the number of mutational events occurring during the evolution of human tumors is much larger and affects a wider variety of genes than previously imagined. Dr. Velculescu's studies have paved the way for similar genome-wide mutational analyses in other tumor types and provide a basis for personalized approaches to understanding and treating cancer.

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2006 AWARD

George Q. Daley of Harvard Medical School, Children's Hospital of Boston and the Dana Farber Cancer Institute for his work:

 

in the area of chronic myeloid leukemia and in the application of stem cell biology to the treatment of leukemia and genetic diseases.
 

While still an MD/PhD student at Harvard Medical School (in the HST division) in the laboratory of David Baltimore, George Daley created a faithful model of human chronic myeloid leukemia by putting the fusion gene of the "Philadelphia chromosome" characteristic of that disorder into the mouse. This proved beyond question the causative role of the fusion gene and indirectly guided development of the remarkably effective inhibitor of the fusion gene product, Gleevec. After completion of full residency training capped off by chief residency at the Massachusetts General Hospital, Daley returned to the laboratory. His studies included investigations into the mechanism of resistance to Gleevec that occurred in some CML patients because of mutation in the active part of the fusion gene. This work prompted him to design small molecules that would overcome resistance and to undertake clinical trials. Following on his seminal work on the pathogenesis and treatment of CML, a paradigm of stem cell disorders, Daley has devoted his efforts in the last five years to the fashioning of blood-cell stem cells that can be corrected genetically and used for bone marrow transplantation in genetic, neoplastic and degenerative disorders. His goal is to reprogram stem cells from patients with genetic diseases and put these cells back into the patient--a combination of gene and cell therapy. This goal was aided by his discovery of two genes that promote specialization into blood cells and their engraftment in the bone marrow. Daley is an active participant in discussions of the ethical and policy issues surrounding stem cell research. Long a leader in the CML field, he has emerged as a leader also in the field of stem cell research, being recently elected president of the International Society for Stem Cell Research.