2016 Rare Disease Day Symposium

Rare Disease Day Sanford Children's Health Research Center

Seventh Annual Rare Disease Day Symposium

Human Glycosylation Disorders

February 26-27, 2016
10905 Road to the Cure
La Jolla, California map & directions


Now in its seventh year, the Sanford Burnham Prebys Rare Disease Day Symposium at the Institute’s La Jolla campus offers research knowledge, family support, and one-on-one access to leading rare disease researchers for dozens of families impacted worldwide.

This year, we have invited patient advocate groups CDG CARE, NGLY1.org, and The Grace Wilsey Foundation to join our collaborative event. The CDG Family Conference will be held at the Clarion Del Mar Inn in nearby Del Mar Sunday February 28–Monday February 29, 2016. We will bridge the two meetings with a patient-centric “doctor-is-in” session the afternoon of Saturday, February 27, followed by an interactive networking reception that promotes conversations among scientists, physicians, families and advocates.

Stories in The New Yorker and Der Spiegel last year attest to the symposium’s success at bridging borders in rare disease, and this year will be no different. Join us.

Please note (updated February 23): Due to unforeseen circumstances, Drs. Hood and Eklund will not be able to join the symposium this year. Please see our revised program below. Remaining space in the La Jolla auditorium is limited; late registrations may be wait-listed.

This year's event is organized by
Hudson Freeze, Ph.D.

Program

8.5"x11"

Symposium Flyer

11"x17"

"Doctor-is-in" Flyer

8.5"x11"

Speaker Videos

Look for "Watch Video" links below speaker names to view available videos.

Program - Day 1


Friday, February 26, 2016




8:30 - 8:40 a.m. - Opening Remarks


nisen
Perry Nisen, M.D., Ph.D.
Chief Executive Officer
Donald Bren Chief Executive Chair
Sanford Burnham Prebys Medical Discovery Institute
Watch video

8:40 - 8:45 a.m. - Opening Remarks


nisen
T. Denny Sanford
Honorary Trustee
Sanford Burnham Prebys Medical Discovery Institute




8:45 - 9:30 a.m.


Tabak

Perspectives from the National Institutes of Health


Lawrence Tabak, D.D.S, Ph.D.
National Institutes of Health
Watch video

9:30 - 10:15 a.m.


Gahl

Investigating Rare Diseases Through the NIH Undiagnosed Diseases Program and Network


William Gahl, M.D., Ph.D.
National Institutes of Health



10:15 - 10:30 a.m. - Break



10:30 - 10:55 a.m.


Jin

A Mouse Model Mimicking PMM2-CDG


Shengfang Jin, Ph.D.
Agios Pharmaceuticals Inc.
Watch video

10:55 - 11:20 a.m.


Steet

New Insight into CDG Pathogenesis from Zebrafish and Stem Cell Models


Richard Steet, Ph.D.
University of Georgia
Watch video

11:20 - 11:45 a.m.


Gilmore

Oligosaccharyltransferase Mutations: Role in CDG-I


Reid Gilmore, Ph.D.
University of Massachusetts Medical School
Watch video

11:45 a.m. - 12:10 p.m.


Freeze

Peters Plus Syndrome and other deficiencies in glycosylation of cysteine-rich domains


Robert Haltiwanger, Ph.D.
The University of Georgia Complex Carbohydrate Research Center
Watch video


12:10 - 1:30 p.m. - Lunch



1:30 - 1:55 p.m.


Huizing

Disorders of Sialic Acid Synthesis: Pathway and Prospects for Therapy


Marjan Huizing, Ph.D.
NHGRI, NIH
Watch video

1:55 - 2:20 p.m.


Wang

Mitochondrial GFM1 Deficiency Presenting as a Congenital Disorder of Glycosylation


Raymond Wang, M.D.
CHOC Children's Clinic
Watch video

2:20 - 2:45 p.m.


Beeson

Myasthenic Syndromes and CDGs


David Beeson, Ph.D.
University of Oxford




2:45 - 3:00 p.m. - Break



3:00 - 3:25 p.m.


Wells

Secondary Dystroglycanopathy in Congenital Muscular Dystrophy: Zeroing in on Functional Glycosylation


Lance Wells, Ph.D.
The University of Georgia Complex Carbohydrate Research Center
Watch video

3:25 - 3:50 p.m.


Kinoshita

Molecular Basis of Congenital Deficiencies of GPI Anchors


Taroh Kinoshita, Ph.D.
Osaka University
Watch video

3:50 - 4:15 p.m.


Morava

Optimizing galactose treatment in PGM1-CDG


Eva Morava, M.D., Ph.D.
Tulane University Medical Center, Hayward Genetics Center, USA and
University of Leuven, Department of Pediatrics, Belgium
Watch video

>

Program - Day 2


Saturday, February 27, 2016




9:00 - 9:15 a.m.


Might

Natural Allies: Precision Medicine and Rare Disease


Matt Might, Ph.D.
NGLY1.org



9:15 - 9:40 a.m.


Wolfe

NIH CDG Natural History Study


Lynne Wolfe, M.S., C.N.R.P.
National Institutes of Health



9:40 - 10:05 a.m.


Suzuki

ENGase as a Potential Drug Target for NGLY1-deficiency


Tadashi Suzuki, D.Sci.
RIKEN Global Research Cluster



10:05 - 10:30 a.m.


Jafar-Nejad

Using Drosophila to Understand the biology of NGLY1


Hamed Jafar-Nejad, M.D.
Baylor College of Medicine



10:30 - 10:45 a.m.


Wilsey

2,978 Days & the Race to Cure NGLY1


Matt Wilsey, M.B.A.
Grace Wilsey Foundation
Watch video

10:45 - 11:00 a.m. - Break



11:00 - 11:25 a.m.


Schork

Individualizing Medical Research: The N-of-1 Clinical Trial


Nicholas J. Schork, Ph.D.
J. Craig Venter Institute
Watch video

11:25 - 11:50 a.m.


Miller

Let's Not Let Regulations Or Moratoriums Delay New Therapies


Henry I. Miller, M.S., M.D.
Stanford University
Watch video

11:50 a.m. - 12:05 p.m.


Coughlan

Run for Rare


Noah Coughlan
Run for Rare



12:05 - 12:15 p.m. - Wrap Up & Closing Remarks


12:15 - 1:00 p.m. - Lunch




1:00 - 4:00 p.m. - “Doctor-is-in” Session


Interactive event for CDG and NGLY1 patients and their families.
Pre-registration extended to February 15, 2016.



4:00 p.m. - Reception



Keynote Speakers


Perspectives from the National Institutes of Health


Tabak
Lawrence Tabak, D.D.S., Ph.D.
Principal Deputy Director, National Institutes of Health



Dr. Lawrence Tabak is the principal deputy director of the National Institutes of Health (NIH). He previously served as the acting principal deputy director of NIH (2009), and prior to that as director of the National Institute of Dental and Craniofacial Research from 2000-10. Dr. Tabak has provided leadership for several trans-NIH activities, including the Enhancement of Rigor and Reproducibility of Research Findings, strategic planning for health research related to sexual and gender minorities (SGM), development and implementation of Strategic Pediatric Environmental Research initiatives, and the NIH’s implementation of the American Recovery and Reinvestment Act. Most recently, he co-chaired the working group of the Advisory Committee to the Director of NIH on the Long-Term Planning for the NIH Intramural Research Program. Prior to joining NIH, Dr. Tabak was the senior associate dean for research and professor of dentistry and biochemistry & biophysics in the School of Medicine and Dentistry at the University of Rochester in New York. A former NIH MERIT recipient, Dr. Tabak’s major research focus has been on the structure, biosynthesis and function of glycoproteins. He continues work in this area, maintaining an active research laboratory within the NIH intramural program in addition to his administrative duties. Dr. Tabak is an elected member of the Institute of Medicine of the National Academies. He received his undergraduate degree from City College of New York, his D.D.S. from Columbia University, and a Ph.D. from the University of Buffalo.



Investigating Rare Diseases Through the NIH Undiagnosed Diseases Program and Network


gahl
William Gahl, M.D., Ph.D.
Clinical Director of NHGRI
Director of the NIH Undiagnosed Diseases Program (UDP)


Dr. William A. Gahl earned his B.S. in biology from the Massachusetts Institute of Technology in 1972 and his M.D. from the University of Wisconsin in 1976. He obtained a Ph.D. degree in oncology research from Wisconsin's McArdle Laboratories for Cancer Research in 1981 and served as pediatric resident and chief resident at the University of Wisconsin hospitals from 1976-80. In 1984, he completed clinical genetics and clinical biochemical genetics fellowships at the NIH's Interinstitute Medical Genetics Training Program, which he directed from 1989 to 1994. Dr. Gahl's research has focused on the natural history of rare metabolic disorders and the discovery of new genetic diseases. He elucidated the basic defects in cystinosis and Salla disease, i.e., deficiencies of the lysosomal membrane transporters that carry cystine and sialic acid, respectively, out of the lysosome. Dr. Gahl also demonstrated effective therapy for nephropathic cystinosis, bringing cysteamine to new drug approval by the Food and Drug Administration. His group described the natural history of Lowe syndrome, alkaptonuria, autosomal recessive polycystic kidney disease, Chediak-Higashi disease, GNE myopathy, and Hermansky-Pudlak syndrome (HPS), a disorder of oculocutaneous albinism, bleeding, and pulmonary fibrosis. His lab discovered the genetic bases of gray platelet syndrome, Hartnup disease, arterial calcification due to deficiency of CD73, 3-methylglutaconic aciduria type III, 3 types of HPS, and neutropenia due to VPS45 deficiency. He has published more than 350 peer-reviewed papers and trained 36 biochemical geneticists. He established American Board of Medical Specialties certification for medical biochemical genetics. He served one the board of directors of the ABMG, as president of the Society for Inherited Metabolic Disorders, and was elected to the American Society for Clinical Investigation and the Association of American Physicians. Dr. Gahl received the Dr. Nathan Davis Award for Outstanding Government Service from the AMA, the Service to America Medal in Science and the Environment, the RareVoice Award for a Government Agency Leader, and numerous other awards.



Speaker Profiles


Myasthenic Syndromes and CDGs


Beeson
David Beeson, Ph.D.
Professor in Molecular Neurosciences
Medical Sciences Division, University of Oxford


Dr. David Beeson graduated from Magdalene College, Cambridge in 1979, where he specialised in Genetics as part of the Natural Sciences degree. He did his PhD with Professor Eric Barnard at Imperial College, London focusing on the first cloning of muscle acetylcholine receptors. He joined Professor John Newsom-Davis to work on disorders of neuromuscular transmission at the Royal Free Hospital, London and then in 1988 in the Neurosciences Group at the Weatherall Institute of Molecular Medicine, University of Oxford. In 1998 he was awarded an MRC Senior Non-Clinical Fellowship. In 1995 he was made an Honorary University Lecturer, in 2004 a Professor in Molecular Neuroscience, and in 2012 a Fellow of St Cross College, Oxford. His work has focused on understanding the pathogenic mechanisms that result from genetic defects of neuromuscular transmission, and he oversees the United Kingdom National Service for Congenital Myasthenic Syndromes. His research has spanned from the first cloning and expression of genes encoding the human acetylcholine receptor, through multiple studies of human mutations that affect neuromuscular transmission, to defining new treatments options. In his most recent work he has identified mutations in a series of genes that have their major manifestation through impaired glycosylation of crucial proteins at the neuromuscular synapse.



Using Drosophila to Understand the biology of NGLY1


hamed
Hamed Jafar-Nejad, M.D.
Associate Professor
Department of Molecular and Human Genetics
Program in Developmental Biology, Baylor College of Medicine

Dr. Hamed Jafar-Nejad received his MD in 1994 from Tehran University. He spent one year (2000) in the Neuroscience Research Institute at the University of Ottawa, where he studied the transcriptional regulation of a serotonin receptor implicated in mood disorders. He then started his postdoctoral training in the area of Notch signaling and Drosophila neurogenesis with Dr. Hugo Bellen at Baylor College of Medicine. In December 2006, he started his independent group at the University of Texas Health Science Center at Houston, focusing on a glycosyltransferase called Rumi which he had identified in Drosophila as a key regulator of the Notch signaling pathway. His group uses Drosophila and mouse genetics and collaborates with glycobiologists to understand the role of Rumi and its downstream enzymes as modifiers of the Notch receptors and other key proteins during development. In 2012, he was recruited back to the Department of Molecular and Human Genetics at Baylor, where his group continues their studies on the role of glycosylation in animal development and human disease. More recently, Hamed has joined the so-called “NGLY1 team” and is using Drosophila to understand the role of N-glycanase 1 (NGLY1) in animal development, in hopes of shedding light on the pathophysiology of NGLY1 deficiency in human patients and identifying drug targets for this disease.



Disorders of Sialic Acid Synthesis: Pathway and Prospects for Therapy


huizing
Marjan Huizing, Ph.D.
Staff Scientist
Medical Genetics Branch
NHGRI, NIH

Dr. Huizing received her M.Sc. (1992) in Molecular Life Sciences from Wageningen University and her Ph.D. (1998) from Radboud University Nijmegen Medical Center in the Netherlands. Her Ph.D. research focused on mitochondrial diseases. She went on to postdoctoral studies at the National Institutes of Health (1998), and became head of the Cell Biology of Metabolic Disorders Unit, NHGRI, in 2004. Since 2014 she is a Clinical Project Manager for the Human Biochemical Genetics Section, NHGRI. Through her research career, she evaluated causes and potential treatments of a range of metabolic disorders. Special interests include human disorders related to lysosome-related organelles, mitochondrial disease, glycobiology and sialic acid metabolism. Dr Huizing’s group demonstrated that oral ManNAc (a sialic acid precursor) therapy rescued clinical and biochemical features in mouse models of GNE myopathy and glomerular diseases. She was instrumental in development of ManNAc therapy for human use, which is currently evaluated in a Phase 2 clinical trial for GNE myopathy, and a Phase 1 clinical trial for glomerular diseases.



Let's Not Let Regulations Or Moratoriums Delay New Therapies


miller
Henry I. Miller, M.D.
Robert Wesson Fellow in Scientific Policy and Public Policy,
Hoover Institution,
Stanford University

Dr. Henry I. Miller, MS, MD, is the Robert Wesson Fellow in Scientific Philosophy and Public Policy at the Hoover Institution. His research focuses on public policy toward science and technology, encompassing a number of areas, including pharmaceutical development, genetic engineering in agriculture, models for regulatory reform, and the emergence of new viral diseases. Dr. Miller served for fifteen years at the US Food and Drug Administration (FDA) in a number of posts. He was the medical reviewer for the first genetically engineered drugs to be evaluated by the FDA and thus instrumental in the rapid licensing of human insulin and human growth hormone. Thereafter, he was a special assistant to the FDA commissioner and the founding director of the FDA's Office of Biotechnology. During his government service, Dr. Miller participated frequently on various expert and policy panels as a representative of the FDA or the US government. As a government official, Dr. Miller received numerous awards and citations.

Dr. Miller’s articles on science and public policy have been widely published in journals and media outlets in many languages. Monographs include Policy Controversy in Biotechnology: An Insider's View; To America's Health: A Model for Reform of the Food and Drug Administration; and The Frankenfood Myth: How Protest and Politics Threaten the Biotech Revolution. Barron's selected The Frankenfood Myth as one of the 25 Best Books of 2004. Dr. Miller is a regulator contributor to Forbes.com and frequently appears on the (U.S.) nationally syndicated radio programs of John Batchelor and Lars Larson. Dr. Miller was selected by the editors of Nature Biotechnology as one of the people who had made the "most significant contributions" to biotechnology during the previous decade; and by Scientific American Worldview as one of the 100 "visionaries who continue to reshape biotechnology -- and the world."



Emerging CDG Concepts


freeze
Hudson Freeze, Ph.D.
Professor of Glycobiology
Director Human Genetics Program
Sanford Children's Health Research Center

Dr. Hudson Freeze is a world expert on Glycosylation disorders and their treatments, having worked on rare diseases for over 35 years. He is Professor of Glycobiology and Director of the Human Genetics Program at Sanford Burnham Prebys Medical Discovery Institute. His present research interests are in defining new types of CDG, and in NGLY1, the first Congenital Disorder of Deglycosylation. In 2013, Dr. Freeze received the prestigious Golden Goose award for his discovery of Thermus aquaticus, a thermophilic bacterium. He is currently the President-Elect of FASEB, a 120,000 member alliance of biomedical researchers.



Oligosaccharyltransferase Mutations: Role in CDG-I


gilmore
Reid Gilmore, Ph.D.
Professor
University of Massachusetts Medical School
Biochemistry and Molecular Pharmacology

Dr. Reid Gilmore received a Ph.D. in Biochemistry from the University of Illinois, Urbana in 1980 for research with Dr. Michael Glaser. Reid's thesis project was to analyze the role of membrane phospholipid composition on the structure and function of the rough endoplasmic reticulum (RER) in mammalian cells. Reid Gilmore conducted his postdoctoral research with Nobel laureate Dr. Gunter Blobel at the Rockefeller University, where he analyzed the mechanism of protein translocation across the RER. In 1985, Reid was appointed as an Associate Professor in the Department of Biochemistry at the University of Massachusetts Medical School (UMMS). At UMMS, Reid continued his research on the mechanism of protein translocation across the ER, and began investigating the oligosaccharyltransferase (OST). The OST is the ER-localized enzyme that transfers a preassembled oligosaccharide onto asparagine residues on newly synthesized proteins in the lumen of the RER. The Gilmore lab has purified the OST from budding yeast and from mammalian pancreatic tissue. The OST is a surprisingly complicated enzyme consisting of seven to eight non-identical subunits. A second layer of complexity is explained by duplication of the catalytic subunit gene to yield alternative catalytic subunits (STT3A or STT3B) that are incorporated into OST isoforms with different in vivo functions. To date, mutations have been identified in at least three OST subunit genes that cause variants of congenital disorders of glycosylation (CDG-1). Dr. Gilmore has remained at UMMS and is currently a Professor and Vice-Chair of the Department of Biochemistry and Molecular Pharmacology.



Secondary Dystroglycanopathy in Congenital Muscular Dystrophy: Zeroing in on Functional Glycosylation


wells
Lance Wells, Ph.D.
Georgia Research Alliance Lars G. Ljungdahl Distinguished Investigator,
Director of Graduate Studies & Professor Biochem. and Mol. Biol.,
Adjunct Prof. Chem., Georgia Cancer Coalition Scholar

Lance Wells is the Georgia Research Alliance Lars G. Ljungdahl Distinguished Investigator and a Professor of Biochemistry & Molecular Biology at the Complex Carbohydrate Research Center at the University of Georgia. He received his B.S. in Chemistry with a Minor in Psychology from Georgia Tech. His Ph.D. in Biochemistry & Molecular Biology from Emory University focused on studying the enzymes defective in the congenital disorder of galactosemia. His post-doctoral studies in Biological Chemistry at the Johns Hopkins School of Medicine focused on regulation of the O-GlcNAc modification and its putative role as a nutrient sensor in disease states. Since establishing his own lab at the CCRC at UGA, his laboratory has focused on the role of glycosylation in several human diseases including Congenital Muscular Dystrophy, intellectual disability, cancer, and diabetes. His laboratory has also played a significant role in the development of quantitative mass spectrometry-based approaches for glycan and glycoprotein analysis. Dr. Wells is currently on the board of directors for the Society for Glycobiology, and 3 editorial boards (Glycobiology, Molecular and Cellular Proteomics, and the Journal of Biological Chemistry). Dr. Wells has published ~100 manuscripts in the peer reviewed literature and is currently funded by the W.M. Keck Foundation, the Bill & Melinda Gates Foundation, and the National Institutes of Health.



Optimizing galactose treatment in PGM1-CDG


morava
Eva Morava, M.D., Ph.D.
Tulane University Medical Center, Hayward Genetics Center, USA and
University of Leuven, Department of Pediatrics, Belgium


Eva Morava, M.D., Ph.D., was born in 1966 in Budapest, Hungary. She completed her medical studies in 1990 at the University of Pecs, in Hungary. She specialized in pediatrics in 1994 and from that time on she worked as a staff member at the Department of Pediatrics, and later at the Department of Human Genetics at the University of Pecs, Hungary. Between 1996 and 1998 she participated in the fellowship training program in neonatology and biochemical genetics at the Tulane University Medical Center at the Department of Pediatrics and at Hayward Genetics Center in New Orleans, LA. She specialized in human genetics in 1999. She defended her PhD thesis on Molecular cytogenetic investigations in mental retardation syndromes in 2000 in Pecs, Hungary, where she worked as a clinical geneticist until 2002. She did her further year of training in metabolic pediatrics from December 2002 at the Radboud University Nijmegen Medical Center (RUNMC) and worked as a staff member and metabolic pediatrician at the RUNMC since 2004. Since 2012 she became faculty at the Tulane University Medical Center, at the Hayward Genetics Center, as a biochemical geneticist.

Dr. Morava's research group focuses on syndromic forms on inborn errors of metabolism. Her special interest lies in research on mitochondrial disorders and research on congenital disorders of glycosylation (CDG). She has a strong collaboration with the Institute of Genetic and Metabolic Disease at the Radboud University Medical School and she established the Nijmegen Center for CDG (www.nijmegencdg.nl). She is a member of the editorial board of the Journal of Inherited Metabolic Disorders. Eva Morava is currently a full professor of pediatrics at the Hayward Genetics Center at Tulane University, New Orleans.



NIH CDG Natural History Study


wolfe
Lynne Wolfe, M.S., C.N.R.P.-NIH
Genetic Nurse Practitioner
Undiagnosed Disease Program, National Institutes of Health


Lynne Wolfe is currently a Senior Nurse Practitioner in the NIH Undiagnosed Diseases program and Study Coordinator for both the EPI-743 and Congenital Disorders of Glycosylation clinical research protocols at NIH. Ms. Wolfe has been a nurse for over 25 years and a Metabolic Nurse Practitioner for 19 years. As a staff nurse, she worked mostly in Pediatric Critical Care. Her Nurse Practitioner training was completed at the University of Rochester in New York where she earned her primary care and acute care degrees with pediatric and adult specialities. She has worked in rural New England, with Dr. Charles Roe at the Baylor University Institute for Metabolic Diseases in Dallas, Dr. Jerry Vockley in Medical Genetics at the Children's Hospital of Pittsburgh snd also with Dr. Margretta Seashore at Yale. Currently she is working with Dr. William Gahl at NIH.



Natural Allies: Precision Medicine and Rare Disease


might
Matt Might, Ph.D.
NGLY1.org



Matt Might is an Associate Professor in computer science at the University of Utah, where he conducts research on cybersecurity, scientific computing and medical robotics on behalf of DARPA, the National Science Foundation and the National Nuclear Security Administration. Prof. Might is also a Visiting Associate Professor in biomedical informatics at the Harvard Medical School, where he conducts research on diagnostic techniques for undiganosed diseases and on computationally predicted treatment strategies for genetic diseases. Might is also the father of the first N-Glycanase (NGLY1) deficient patient ever discovered and is now President of NGLY1.org, a foundation dedicated to understanding, treating and curing the disorder. He has played an organizing role in the President's Precision Medicine Initiative since 2014, and he works regularly with White House and NIH leadership on scaling the promise and potential of precision medicine to the entire population. In 2014, he was appointed one of six Presidental Scholars at the University of Utah and received a CAREER Award from the National Science Foundation. He received his Ph.D. in Computer Science from Georgia Tech in 2007. He regularly blogs at blog.might.net and tweets from @mattmight.



2,978 Days & the Race to Cure NGLY1


wilsey
Matt Wilsey, M.B.A.
President, Grace Wilsey Foundation



Matt Wilsey is a Silicon Valley entrepreneur, angel investor, and advisor. His investments include Nimble Storage, Practice Fusion, Pintrest, Virtual Instruments, William Morris Endeavor, Bonobos, Pinrose, Interior Define, Gear Launch, and Weddington Way. In addition to consumer products and services, Matt invests in and advocates for biomedical research, drug development, and genetic sequencing technologies.

Before moving to the investment side, he spent many years as a front-line operator. Most recently, Matt was Co-Founder and Chief Revenue Officer of CardSpring, a payment infrastructure company that was acquired by Twitter. Previously, Matt ran West coast sales and business development for Howcast.com. He was responsible for building Howcast’s instructional content library, distribution network, and strategic relationships. Before Howcast, Matt worked for Kohlberg Kravis Roberts (KKR) on the Capital Markets team focused on new product development, capital raising, and investor relations. Prior to that, Matt spent five years as Co-Founder and Vice President of Business Development at Zazzle.com, where he was responsible for all content and distribution deals.

He started his career serving in various roles at the White House and the Department of Defense. Matt became a rare disease hunter and advocate after his daughter Grace was born with NGLY1 Deficiency. The Grace Wilsey Foundation has since funded 19 research teams accounting for over 50 scientists in 3 countries with the sole purpose of curing the disease.

Matt holds a B.A. from Stanford University and a M.B.A. from Stanford’s Graduate School of Business. He sits on the Board of Directors of the Grace Wilsey Foundation, The Lucile Packard Foundation for Children’s Health, Global Genes, the EveryLife Foundation for Rare Diseases, and Perlstein Lab. He is an advisor to Glycomine, Ranomics, RARE Science, Inc., and AltheaHealth.



Making Therapy Work when n=1


schork
Nicholas (Nick) J. Schork, Ph.D.
Professor and Director, Human Biology, at the J. Craig Venter Institute (JCVI):
Professor at the Translational Genomics Research Institute (TGen) in Phoenix
Adjunct Professor at the University of California, San Diego.

Dr. Nicholas Schork is Professor and Director, Human Biology, at the J. Craig Venter Institute (JCVI), Professor at the Translational Genomics Research Institute (TGen) in Phoenix and an Adjunct Professor at the University of California, San Diego. Prior to his position at the JCVI he was a Professor, Molecular and Experimental Medicine, at The Scripps Research Institute (TSRI) and also Director of Bioinformatics and Biostatistics for the Scripps Translational Science Institute (STSI). Dr. Schork has also held faculty appointments at Case Western Reserve University and Harvard University. He has published over 500 articles in the area of the genetic dissection of complex phenotypes. These articles include both methodological and applied studies. He also has a long history of collaborative and consortium-related research in which he has contributed analysis methodology and applied data analysis expertise. Dr. Schork is currently the Director of the Tanner Project, a study investigating the utility of early cancer detection biomarkers among individuals highly susceptible to cancer and an investigator associated with the Stand Up to Cancer Melanoma Dream Team clinical trial investigating the utility of tumor genomic profiling in making treatment decisions.



Run for Rare


coughlan
Noah Coughlan
Founder of Run for Rare



Noah Coughlan, 31, of California is an extreme athlete and long distance runner. Coughlan recently completed his third 3,000 mile Run across the continental United States on July 4th, 2015. Coughlan is the founder of Run for Rare and a strong advocate for the Rare Disease community.



Mitochondrial GFM1 Deficiency Presenting as a Congenital Disorder of Glycosylation


wang
Raymond Wang, M.D.
Director, Multidisciplinary Lysosomal Storage Disorder Program



Dr. Raymond Wang, M.D. is the director of multidisciplinary lysosomal storage disorder program at CHOC Children’s and a board certified clinical geneticist and biochemical genetics specialist. Dr. Wang attended Stanford University where he was a member of the Phi Beta Kappa honors society and graduated with a bachelor’s degree with Honors and Distinction in Biological Sciences. He earned his medical degree from the University of California, Los Angeles (UCLA) where he was a member of the Alpha Omega Alpha honors society. He completed his internship and residency in medical genetics and pediatrics at Cedars-Sinai Medical Center where he also attended the center’s medical genetics training program. He served his fellowship in biochemical genetics at the UCLA Intercampus. In 2006, Dr. Wang received the American College of Medical Genetics and Genzyme Fellowship in Biochemical Genetics Award. In the same year, he also received the Cedars-Sinai Medical Center’s Paul Rubenstein Prize for Excellence in Resident Research.



New Insight into CDG Pathogenesis from Zebrafish and Stem Cell Models


steet
Richard Steet, Ph.D.
Associate Professor of Biochemistry and Molecular Biology
Treasurer, Society for Glycobiology
Complex Carbohydrate Research Center, University of Georgia

A native of upstate New York, Dr. Richard Steet earned his B.A from Colgate University in 1994 and received his Ph.D. from the University of Colorado-Boulder in 2000. During his postdoctoral studies in the laboratory of Dr. Stuart Kornfeld at Washington University School of Medicine in St. Louis, Dr. Steet was involved in the first characterization of a CDG caused by defects in the Golgi-localized COG complex and helped to establish methods to rapidly identify other COG cases. He began his independent research career at the Complex Carbohydrate Research Center on the University of Georgia campus in 2006 and was promoted to Associate Professor in 2012. Dr. Steet’s laboratory has pioneered the use of zebrafish to study the developmental pathophysiology of glycosylation-related disorders, with a primary focus on mucolipidosis II and PMM2-CDG. He maintains an active collaboration with Dr. Freeze to model new CDGs using the zebrafish system. His research interests have also expanded into the use of iPS and iPS-derived cells, as well as chemical glycobiology approaches, as a means to identify specific glycoproteins and pathways that are sensitive in the context of CDGs. Dr. Steet is active in the areas of lysosomal storage disorders (where he serves on the Professional Advisory Board for the Mucopolysaccharidoses (MPS) Society and the International Society for Mannosidosis and Related Disorders) as well as glycobiology (where he serves as Treasurer of the Society for Glycobiology).



Peters Plus Syndrome and other deficiencies in glycosylation of cysteine-rich domains


steet
Robert Haltiwanger, Ph.D.
GRA Eminent Scholar in Biomedical Glycosciences, Editor-in-Chief, Glycobiology
Professor of Biochemistry and Molecular Biology,
The University of Georgia Complex Carbohydrate Research Center

Dr. Haltiwanger received his B.S. in Biology (1980) and Ph.D. in Biochemistry (1986) from Duke University. He went on to do postdoctoral work at Johns Hopkins University School of Medicine, and took his first independent position as an Assistant Professor in the Department of Biochemistry and Cell Biology at Stony Brook University (1991). He rose through the ranks to full Professor and served as Chair of that Department for 8 years. He moved to the CCRC in 2015 as the GRA Eminent Scholar in Biomedical Glycosciences. He has served as President of the Society for Glycobiology, Chair of the Glycobiology Gordon Conference, and currently serves as Editor-in-Chief of the journal Glycobiology.



ENGase as a Potential Drug Target for NGLY1-deficiency


suzuki
Tadashi Suzuki, D.Sci.
Team Leader, Glycometabolome Team, Systems Glycobiology Research Group
RIKEN-Max Planck Joint Research Center for Systems Chemical Biology
RIKEN Global Research Cluster

Dr. Tadashi Suzuki received a B.S. (1992), M.S. (1994) and D. Sc. (1997) from the Department of Biochemistry and Biophysics, Graduate School of Science, University of Tokyo, Japan. During his undergraduate/graduate studies he demonstrated the activity of the cytoplasmic peptide:N-glycanase (PNGase/Ngly1), a deglycosylating enzyme for N-glycans, in mammalian cells, and characterized the enzymatic properties of this enzyme. He is also one of the first to propose that this enzyme may be involved in the quality control of newly synthesized glycoproteins. He then became a postdoctoral fellow at Department of Biochemistry and Cell Biology, State University of New York at Stony Brook (1997-2000). During this period he cloned the gene encoding the cytoplasmic PNGase in yeast. In 2000, he became a Research Scientist/Research Assistant Professor at the same University. In December 2001 he returned to Japan to start an independent career as a Researcher, Precursory Research for Embryonic Science and Technology (PRESTO), Japan Science and Technology Agency (JST)(2001-2005). In February 2002 he became an Assistant Professor, Undergraduate Program for Bioinformatics and Systems Biology, University of Tokyo, and in January 2004 he moved to Osaka to serve as a Visiting Associate Professor, Center of Excellence (COE) Program, Osaka University Graduate School of Medicine. During this period I identified the gene encoding the cytoplasmic glycosidases, i.e. endo-beta-N-acetylglucosaminidase (ENGase) and alpha-mannosidase (Man2C1), involved in the catabolism of free glycans released by the cytoplasmic PNGase. Since October 2007, he has held his current position as a Team Leader, Glycometabolome Team, Systems Glycobiology Research Group, RIKEN Global Research Cluster. He was an Invited Professor at Osaka University (2007-2009), Visiting Professor at Tokyo Medical and Dental University (2008-2012), and has been a Visiting Professor at Saitama University (2010-current).



Molecular Basis of Congenital Deficiencies of GPI Anchors


kinoshita
Taroh Kinoshita, Ph.D.
Professor
Immunology Frontier Research Center and Research Institute for Microbial Diseases
Osaka University

Dr. Taroh Kinoshita started his research career in 1974 with studies on bactericidal insect proteins at the University of Tokyo. During PhD course in Osaka University Medical School, he studied mammalian complement system. He did 3-year post-doctoral research in New York University School of Medicine from 1982. He demonstrated that blood cells from patients with paroxysmal nocturnal hemoglobinuria (PNH) consist of normal cells and cells deficient in decay-accelerating factor (DAF), and that the latter population is highly sensitive to complement, showing the critical role of DAF in self-nonself discrimination in the complement system. From 1985 to 1990, as a Research Associate and then an Assistant Professor in Osaka University Medical School, he studied mouse complement receptors and demonstrated that complement receptor type 2 is important for antibody response. From 1990 to date, as a Professor in the Research Institute for Microbial Diseases, Osaka University, he has been studying biosynthesis of glycosylphosphatidylinositol (GPI)-anchor and molecular basis of PNH. In 1993, he for the first time cloned PIGA gene that is required for GPI biosynthesis. Since then, he has cloned most of the genes involved in GPI pathway. He demonstrated that PIGA mutation causes deficiency of GPI-anchor in PNH and that PIGA mutation occurs somatically in hematopoietic stem cell, clarifying acquired nature of the disease and why only blood cells are affected. From 2003 to 2007, he was Director of the Research Institute for Microbial Diseases, Osaka University. From 2007, he has been a Deputy-Director of WPI Immunology Frontier Research Center, Osaka University. In last 5 years, he has actively contributed in studies identifying and characterizing congenital deficiencies of GPI.



"Doctor-is-in" Session Profiles


Ficicioglu
Can Ficicioglu, M.D., Ph.D.
The Children's Hospital of Philadelphia



Can Ficicioglu, M.D., Ph.D., is Director of the Newborn Metabolic Screening Program at The Children's Hospital of Philadelphia. Dr. Ficicioglu is developing algorithms for the effective short and long-term care of patients detected by newborn screening and new drugs to treat lysosomal storage disorders. His areas of expertise include: Fatty acid oxidation defects, Galactosemia, Lysosomal Storage Disorders, Newborn metabolic screening, and PKU.



Philip M. James, M.D.
Phoenix Children's Hospital

Dr. Philip James is a specialist in Genetics and Genomics at Phoenix Children's Hospital.



krasnewich
Donna Krasnewich, M.D., Ph.D.
National Institutes of Health



Donna Krasnewich, M.D., Ph.D., is a program director in the Division of Genetics and Developmental Biology, where she manages research grants dealing with the genetic basis of human biology. Prior to joining NIGMS, she held several intramural positions, including deputy clinical director at the National Human Genome Research Institute. Krasnewich earned a B.S. in microbiology and cell biology from the University of Michigan and an M.D. and Ph.D. in pharmacology from Wayne State University School of Medicine. She is board-certified in pediatrics and clinical biochemical genetics.



miller
Bradley Miller, M.D., Ph.D.
University of Minnesota Masonic Children’s Hospital



Bradley Miller, M.D., Ph.D. completed his Pediatric residency (2000) and Pediatric Endocrinology fellowship (2003) at the Mayo Clinic. Dr. Miller is an Associate Professor in Pediatric Endocrinology at the University of Minnesota Masonic Children's Hospital, and has been a member of the division since 2003. Dr. Miller has an interest in the role of the growth hormone (GH)/insulin-like growth factor (IGF) system in normal and abnormal growth in children. He is also interested in the growth and development of children following adversity including cancer and its therapies, fetal alcohol exposure and international adoption. Dr. Miller is also interested in the endocrine aspects of abnormal glycosylation in children with Congenital Disorders of Glycosylation.



patterson
Marc Patterson, M.D.
Mayo Clinic



Marc C. Patterson, M.D., studies Niemann-Pick disease type C and other lysosomal diseases, congenital disorders of glycosylation, and pediatric multiple sclerosis. Dr. Patterson's research activities have included laboratory studies in neuropharmacology at the University of Queensland and in lysosomal diseases at the National Institutes of Health (NIH). He has also participated in clinical trials and natural history studies at NIH, Columbia University and Mayo Clinic. Dr. Patterson's work has made the first disease-modifying therapy available to people afflicted by Niemann-Pick disease type C. He is continuing to work to improve the duration and quality of life for children and adults with this and other lysosomal storage diseases. His work will also lead to improved diagnosis and management of congenital disorders of glycosylation and childhood demyelinating disorders, including multiple sclerosis.



friedman
Jennifer R. Friedman, M.D.
Clinical Professor
UC San Diego School of Medicine
Department of Neurosciences

Dr. Friedman’s research interests include neuro-metabolic and genetic disorders that affect movement. She has particular interest in efforts to better understand and treat pediatric neurotransmitter disorders. She recently directed an international collaboration to characterize sepiapterin reductase deficiency, a form of dopa-responsive dystonia and participated in research efforts involving the use of fMRI to better understand the brain mechanisms that underlie behavioral therapy for tics (CBIT). She conducts research involving the use of exome sequencing to diagnose rare disease.


Travel Information


Symposium Location

The 2016 Sanford Burnham Prebys Rare Disease Day Symposium (SBP RDD) will take place at the Sanford Children’s Health Research Center, located at 10905 Road to the Cure, San Diego, CA 92121, 1/4 mile from the main SBP campus on the Torrey Pines mesa in La Jolla, CA, USA.

Hotel

The Del Mar Inn, located at 720 Camino Del Mar, Del Mar, CA 92014, is the official speakers’ hotel for the 2016 SBP Rare Disease Day Symposium and the location for the related CDG Family meeting Feb 28-29, 2016. To contact the hotel regarding lodging, please email sales@delmarinn.com or call their front desk directly at 800-451-4515.

SBP is also near to the following hotels, should the Del Mar Inn sell out:

Reception

A free networking reception with drinks and hors d’oeuvres will be held the evening of Saturday, February 27 beginning at 4:00pm in the Sanford Children’s Health Research Center lobby. We invite you to join us to interact with researchers, clinicians, patients, families and rare disease advocates. Please RSVP no later than Monday, February 22.

Transportation

SBP Shuttle from Del Mar Inn
The SBP RDD symposium organizers will provide one (1) ADA-compliant shuttle bus with a wheelchair lift to transport speakers and guests to and from the Del Mar Inn. The SBP shuttle will run continuously between the Del Mar Inn and the SBP campus at the following times:
  • Friday, Feb 26: 7:00-9:00 am; 12:30-2:30 pm; 3:30-5:30 pm
  • Saturday, Feb 27: 8:00-10:00 am; 12:00-2:00 pm; 4:00-7:00 pm

Del Mar Inn Complimentary Shuttle
The Del Mar Inn also provides a complimentary shuttle to/from SBP Medical Discovery Institute on weekdays (Monday-Friday) at the following times:

AM
  • 7:45 am
  • 8:30 am
  • 9:15 am

PM
  • 2:15 pm
  • 3:00 pm
  • 3:45 pm

To reserve a ride, please sign-up at the Del Mar Inn’s front desk the night before you need their shuttle.


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