Symposium

Treating Disease with Sugars

rare disease day graphic

Date and time

February 27, 2015 - 9:00 am PST
February 28, 2015 - 1:00 pm PST
PT

Location

Sanford Children's Health Research Center

10905 Road to the Cure, San Diego, CA 92121

Map

Host

  • Hudson Freeze, Ph.D.

Speakers

Jennifer Bartfeld, M.D.

Letting Go While Holding On

jennifer bartfieldNeuromuscular Disease Foundation

 


Video

Dr. Jennifer Bartfeld is a board certified psychiatrist in private practice in Los Angeles. She sees adult men and women for both psychotherapy and medication management, treating a variety of conditions including mood and anxiety disorders. Additionally, she specializes in women's mental health. She graduated with honors from UC Berkeley with a BA in psychology. She then attended the Sackler School of Medicine at Tel Aviv University in Israel. She pursued her psychiatric training through a residency at Harbor UCLA Medical Center in Los Angeles. She has taught and supervised residents at the Women's Life Clinic at UCLA and is currently a member of the Ladies Home Journal Medical Advisory Board.

Nuria Carrillo-Carrasco, M.D.

Advancing ManNAc as a Therapy for GNE Myopathy

nuria carrillo-carrascoNational Center for Advancing Translational Sciences, National Institutes of Health

 


Video

Dr. Nuria Carrillo leads the clinical team for the Therapeutics for Rare and Neglected Diseases (TRND) program at the NIH. Her research focuses on therapeutic development for rare genetic diseases. She conducts natural history studies and early-phase clinical trials needed to advance promising therapies for rare diseases, develops biomarkers, and identifies appropriate endpoints for clinical trials. She is a faculty member for the Medical Biochemical Genetics fellowship program at NIH. Dr. Carrillo earned her M.D. from the National Autonomous University of Mexico and completed her pediatrics residency at Georgetown University Hospital. She is board certified in pediatrics, medical genetics and biochemical genetics.

Edward R. Conner, M.D.

Safety and Efficacy Data from a Randomized, Controlled Phase 2 Study (Including Long-Term 2 Year Data) of Sialic Acid Extended Release in patients with GNE Myopathy

ed connerExecutive Medical Director, 
Ultragenyx Pharmaceutical 

 

Video

Dr. Ed Conner is an Executive Medical Director at Ultragenyx Pharmaceutical and is the medical lead for the program using extended release sialic acid to treat GNE Myopathy. Prior to joining Ultragenyx, Ed was at BioMarin where he was the clinical lead for the BMN 701 program, a replacement therapy for the treatment of late onset Pompe disease. Prior to that, he worked at Genentech for over 5 years where he worked on both early and late stage programs in infectious diseases, allergy, and immunology. Ed earned his BS in Biology from Duke University and his MD from the University of California, San Francisco. He did his training in Internal Medicine from the University of Michigan and completed his fellowship in Clinical Immunology & Allergic Diseases from Johns Hopkins University.

Jaime Chu, M.D.

Testing the Waters: Using Zebrafish as a Tool to Study Mechanisms Underlying CDG

jaime chuAssistant Professor of Pediatrics 
Division of Pediatric Hepatology, Kravis Children’s Hospital 
Mount Sinai’s Recanati/Miller Transplantation Institute

Video

Dr. Jaime Chu is an Assistant Professor of Pediatrics in the Division of Pediatric Hepatology at the Kravis Children's Hospital at the Icahn School of Medicine at Mount Sinai in New York. She received her B.A. magna cum laude from Harvard University and her M.D. from New York University School of Medicine. She completed her General Pediatrics residency training at the Lurie Children's Hospital at Northwestern University in Chicago, IL and her fellowship in Pediatric Gastroenterology both at the Lurie Children's Hospital of Northwestern and at the Kravis Children's Hospital at Mount Sinai. Dr. Chu is both a clinician and an NIH-funded physician-scientist, leading a research team that uses zebrafish to investigate the effects of altered glycosylation on cellular metabolism, embryonic development, and liver disease with special focus on congenital disorders of glycosylation. 
 

Michael Demetriou, M.D., Ph.D.

N-acetylglucosamine: a Potential Therapy for Multiple Sclerosis

michael demetriouDirector, National Multiple Sclerosis Society Designated Comprehensive Care Clinic,
Neurology School of Medicine, University of California, Irvine

 

Dr. Michael Demetriou is a specialist in multiple sclerosis and neuromuscular disorders and the Director of the National Multiple Sclerosis Society Designated Comphrehensive Care Clinic, Neurology School of Medicine, University of California, Irvine. His studies have revealed how genetic and metabolic regulation of protein glycosylation controls the function and activity of cell surface glycoproteins to affect cell growth/differentiation and disease states such as autoimmunity. Dr. Demetriou's research interests include Multiple Sclerosis, autoimmunity, T cells, Human Genetics, N-glycosylation, metabolism, and glycobiology.

Martin Denzel, Ph.D.

Hexosamine Pathway Activation Improves Protein Quality Control and Extends Lifespan

martin denzelMetabolic and Genetic Regulation of Ageing Research Group Leader
Max Planck Institute for Biology of Ageing, Cologne, Germany

 

Video

Dr. Martin Denzel studied Human Biology in Marburg and Hamburg, Germany. He completed the Ph.D. degree at Sanford-Burnham Medical Research Institute in La Jolla, CA. Then, he did postdoctoral work with Adam Antebi at the Max Planck Institute for Biology of Ageing in Cologne, Germany. During that time, Martin discovered that elevation of a naturally occurring metabolite in cells could improve protein quality control, reducing toxic protein aggregation. Interestingly, this extends lifespan in the simple animal Caenorhabditis elegans. Martin Denzel’s research group investigates how levels of this metabolite are regulated. He is also interested in the role of protein quality control in the ageing process of higher animals. Finally, his lab will further use the power of C. elegans genetics to identify novel mechanisms that influence the ageing process. 

Hudson Freeze, Ph.D.

Mannose: Healer and Destroyer

Hudson FreezeDirector and Professor, Human Genetics Program
Sanford Children's Health Research Center
Sanford-Burnham Medical Research Institute

 

Dr. Hudson Freeze has worked on rare diseases for over 35 years, specializing in the discovery of Congenital Disorders of Glycosylation (CDG) and their treatments. He is Professor of Glycobiology and the Director of the Human Genetics Program at Sanford-Burnham Medical Research Institute. His current interests are in defining new types of CDG, and in NGLY1, the first Congenital Disorder of Deglycosylation. He is the Vice President for Science Policy at FASEB, a 120,000 member alliance of biomedical researchers.

Gerald (Jerry) Hart, Ph.D.

The Double Edged Sword of Nutrient Regulation of Protein Function by a Sugar

jerry hartDeLamar Professor and Director of Biological Chemistry
Johns Hopkins University School of Medicine

 

Video

Dr. Gerald Hart is the Director and DeLamar Professor of Biological Chemistry at Johns Hopkins University School of Medicine. He began his research on glycoconjugates about forty years ago, and he has been active in the field ever since. He did some of the very earliest studies on cell surface heparan sulfate proteoglycans, characterized the roles of glycosaminoglycans and hyaluronic acids in the development of corneal transparency, and performed early studies on the importance of proteoglycan sulfotransferases. The Hart laboratory has published over 200 papers on O-GlcNAcylation, identifying and cloning the enzymes controlling cycling, characterizing O-GlcNAcylation and its interplay with phosphorylation on hundreds of proteins, and they have developed many of the tools and methods in use today to study this modification. In 1989, Hart founded the leading journal in the field, Glycobiology, serving as Editor-In-Chief until 2001. Hart received the first International Glycoconjuate Organization (IGO) Award in 1997, the Karl Meyer Award from the Society for Glycobiology in 2006, and served as the 2009-2011 president of the IGO. Hart is currently an Associate Editor for The Journal of Biological Chemistry and an Associate Editor for Molecular and Cellular Proteomics. Current areas of research focus are the regulation of kinases by O-GlcNAcylation, defining the O-GlcNAcome of the mitochondria and elucidating the O-GlcNAc Regulation of Mitochondrial Functions and O-GlcNAc Regulation of Transcription. 

Eric Lau, Ph.D.

Fucose: Targeting melanoma with sugar

eric lauSanford-Burnham Medical Research Institute

 


Video

Eric received his Ph.D. from UCSD in 2008 and joined the lab to study the role of ATF2 in melanoma. He has first authored a paper outlining the oncogenic addiction of ATF2 to PKC epsilon (Cell, 2012) and co-first authored a study highlighting the possibility to identify inhibitors for ATF2 based on their ability to affect ATF2 subcellular localization (Mol Cancer Res, 2013). He is currently characterizing the transcriptional output of ATF2 when addicted to PKC epsilon.

Jonathan Lyons, M.D.

Nothing to Sneeze at: the Emerging Role of Sugars in Allergic Syndromes

jonathan lyonsAssistant Clinical Investigator, 
Genetics and Pathogenesis of Allergy Section 
Laboratory of Allergic Diseases, NIAID/NIH

 

Dr. Jonathan Lyons received his undergraduate education at Pomona College prior to earning a Doctor of Medicine from the University of Southern California. He completed his internship and residency training in Internal Medicine at the University of California San Diego, spending an additional year as a Chief Medical Resident. He concluded his formal training in the National Institute for Allergy and Infectious Diseases (NIAID) at the National Institutes of Health (NIH) as a Clinical Fellow in Allergy and Immunology. Currently Dr. Lyons is a Diplomate of the American Board of Internal Medicine and of Allergy and Immunology, and is an active clinical and translational researcher at NIH. He is an Assistant Clinical Investigator on faculty at NIAID and has a translational research focus studying fundamental mechanisms and early events in the immunopathogenesis of allergic diseases. He is an Associate Investigator on several clinical protocols and the Principle Investigator of a protocol in development to provide sugar supplementation to patients with glycosylation defects and immunologic disease. 

May Christine Malicdan, M.D., Ph.D.

Keeping it Sweet: Treatment Options for GNE Myopathy

may malicdanNational Center of Neurology and Psychiatry, NIH

 

 

Dr. May Christine Malicdan's research focuses on sialic acid biology and disease. Negatively charged sialic acids decorate glycoproteins and are involved in cell signaling, glomerular function, neuronal plasticity and development. The rate limiting step in sialic acid biosynthesis is the bifunctional enzyme UDP-N-acetylglucosamine 2-epimerase/N-acetyl-mannosamine kinase encoded by GNE. Mutations in GNE cause the rare disorder Hereditary Inclusion Body Myopathy (HIBM) and Dr. Malicdan's work provides a proof of concept that replenishing the sialic acid pool with modified and unmodified sialic acid metabolites improves sialylation in a GNE myopathy mouse model. She hopes to understand the mechanism of disease in GNE-associated mutations and study other disease pathways that sialic acid influences such as renal disease. Sialic acid maybe an untapped therapeutic for other diseases.

Christina Waters, Ph.D., M.B.A.

RARE Science - Accelerating Therapeutic Advancements for Rare Disease

christina watersChief Executive Officer and Founder, RARE Science

 


Video

Dr. Christina Waters, Ph.D., M.B.A., is CEO and Founder of RARE Science, a non-profit research organization created to accelerate therapeutic solutions for patients and to foster research collaboration in the rare disease community. In addition, she serves as a Scientific Advisory board member for Global Genes|Rare Project and as a Senior Advisor for Personalized Medicine and Health Informatics for Price Waterhouse Coopers’ Personalized Medicine and Health Sciences Practices, serving academic and research organizations across the healthcare continuum.

6th Annual Rare Disease Day Symposium

Simple sugars can treat patients with rare diseases, but these supplements can also impact aging, immune function and development of diabetes. Clinical trials are underway, but the underlying basic science remains obscure. 

Our program covers all of these areas and our speakers will offer some explanations. Clinicians, patients, and their advocates are invited to join bench scientists, present data, explore mysteries, advance theories and offer hope. Join us. 

Poster   Symposium Agenda


Speaker Videos

Use the playlist menu in the upper left corner of the video window to navigate through the speaker videos.


Sponsors

ultragenyx

dextra logo

neuromuscular disease foundation logo
 

ardilla technologies logo
 

hofman international

rocket fund

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