2014 Rare Disease Day Symposium

Rare Disease Day Sanford Children's Health Research Center

Fifth Annual Rare Disease Day Symposium

ERAD Defects in the Cytoplasm: The NGLY1 Story


February 28, 2014
9:00 a.m. – 4:30 p.m. PST
10905 Road to the Cure
La Jolla, California mapdirections


Sanford-Burnham’s successful series of Rare Disease Day symposia is based on the concept that treatment of rare diseases requires participation and exchange among all stakeholders—scientists, physicians, affected patients and their families, support groups, granting agencies, industry, and philanthropists.

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

Symposium Agenda

8.5"x11"

Program


Friday, February 28, 2014




8:30-9:00 - Registration


9:00-9:15 - Opening Remarks


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Kristiina Vuori, M.D., Ph.D.
President
Pauline and Stanley Foster Presidential Chair
Sanford-Burnham Medical Research Institute


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Hudson Freeze, Ph.D.
Director and Professor, Human Genetics Program
Sanford-Burnham Medical Research Institute




9:15-9:45


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The Clinical Phenotype of NGLY1 Deficiency


Gregory Enns, M.D., Ph.D.
The Lucile Packard Children's Hospital
Stanford University School of Medicine


9:45-10:15


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Functional Analysis of NGLY1 in Mice


Tadashi Suzuki, Ph.D.
RIKEN-Max Planck Joint Research Center for Systems Chemical Biology



10:15-10:45


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Analysis of NGLY1 Patient Cells: Clues and Questions


Hudson Freeze, Ph.D.
Sanford-Burnham Medical Research Institute



10:45-11:00 - Break



11:00-11:30


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Developmental and Cross-Species Analyses of NGLY1 in
Drosophila


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


11:30-12:00


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Glycan-mediated Quality Control in ER Protein Folding and Degradation


Randal Kaufman, M.D., Ph.D.
Sanford-Burnham Medical Research Institute



12:00-1:30 - Lunch



1:30-2:00


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Searching for New Treatment Options for Rare Diseases: Phenotypic Screening Using Patient Cells


Michael Jackson, Ph.D.
Sanford-Burnham Medical Research Institute




2:00-2:30 - Patient/Family Perspectives

Parents of the first diagnosed patients who catalyzed interest in the NGLY1 story.


2:00-2:15


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Patients, Parents, Physicians and Paradigms


Matt Might, Ph.D.




2:15-2:30


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A Personal Journey: Hunting a Rare Disease and a Vision of the Future


Matt Wilsey, M.B.A.




2:30-2:45 - Q&A




2:45-3:15


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Characterizing New Disorders in the Undiagnosed Diseases Program


Lynne Wolfe, M.S., C.R.N.P.
National Human Genome Research Institute (NHGRI)
Office of Rare Diseases, Undiagnosed Diseases Program


3:15-3:45


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Rare Diseases and the Centers for Mendelian Genomics


Deborah Nickerson, Ph.D.
University of Washington School of Medicine
Northwest Genomics Center



3:45-4:00 - Break



4:00-4:30


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Panel Discussion/Wrap Up


Hudson Freeze, Ph.D.
Sanford-Burnham Medical Research Institute




Saturday, March 1, 2014


8:30-10:30 - “Doctor-is-in” Session


An interactive information exchange between patients, families and physicians to share understanding of our progress and challenges for the future.


10:30-12:00 - Brainstorming Session


Informal session for basic scientists to discuss research directions and how best to coordinate
those efforts.


Speaker Profiles


Gregory Enns, M.D., Ph.D.

Associate Professor of Pediatrics (Genetics)
The Lucile Packard Children's Hospital
Stanford University

Dr. Gregory Enns is an expert in mitochondrial disorders; providing clinical perspectives and potential therapeutic approaches. His research interests include novel means of diagnosing and treating mitochondrial disorders, with an emphasis on antioxidant therapy, lysosomal disorders, and newborn screening by tandem mass spectrometry. Current pursuits include the analysis of glutathione and antioxidant status in patients who have mitochondrial disorders and the development of new techniques for diagnosing these conditions.


Hudson Freeze, Ph.D.

Professor and Director, Human Genetics Program
Sanford-Burnham Medical Research Institute

Dr. Hudson Freeze is the symposium chair and an established glycobiologist working on cellular aspects of NGLY1 deficiency. Dr. Freeze’s research focuses on the pathology resulting from faulty glycosylation, the process of adding carbohydrate (sugar) chains to proteins and lipids. Carbohydrates are required for proper secretion and targeting of thousands of proteins – an often overlooked fact of biology. He is driven by the search for novel therapeutics to treat patients with mutations leading to glycosylation defects called Congenital Disorders of Glycosylation (CDG).


Michael Jackson, Ph.D.

Vice President, Drug Discovery and Development
Conrad Prebys Center for Chemical Genomics
Sanford-Burnham Medical Research Institute

Dr. Michael Jackson is responsible for the operations of the Prebys Center, a multidisciplinary Drug Discovery enterprise focused on identifying and developing transformational new drugs to address unmet medical needs. The overall mission of the Center is to generate a pipeline of first-in-class drugs based on breakthrough research conducted by investigators at the Sanford-Burnham Medical Research Institute and their collaborators. Prior to joining Sanford-Burnham in 2009, Dr. Jackson spent 15 years at Johnson & Johnson developing a track record of managing large research and development organizations. Under his leadership many novel drugs were advanced to the clinic, and several drug delivery products successfully gained regulatory approval. He received his Ph.D. from the Department of Biochemistry at the University of Dundee in Scotland and completed his post-doctoral training at The Scripps Research Institute.


Hamed Jafar-Nejad, M.D.

Assistant Professor of Molecular and Human Genetics
Baylor College of Medicine

Dr. Hamed Jafar-Nejad is an established Drosophila glycobiologist currently working on a fly model of dNGLY1. Dr. Jafar-Nejad received his M.D. 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 has shown that the function of Rumi is conserved from fruit flies to mice to human, and is currently studying the role of Rumi and its downstream enzymes as modifiers of the Notch signaling pathway. 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.


Randal Kaufman M.D., Ph.D.

Sanford-Burnham Medical Research Institute
Internationally known researcher in UPR who will offer Perspectives on NGLY1 Deficiency and ERAD

Dr. Randal Kaufman received his Ph.D. degree in pharmacology from Stanford University, where he studied gene amplification as a mechanism by which cells become resistant to anticancer agents. As a Helen Hay Whitney fellow with Nobel Laureate Dr. Phillip Sharp at the Center for Cancer Research at MIT, he developed gene transfer technologies based on gene amplification and expression in mammalian cells. After postdoctoral studies, he became a founding scientist at Genetics Institute Inc., engineering mammalian cells for high-level expression of therapeutic proteins, such as clotting factors now used to treat individuals with hemophilia. In 1993, he moved to the University of Michigan as a HHMI Investigator and Professor of Biological Chemistry and Internal Medicine. July 2011, Dr. Kaufman moved to the Sanford-Burnham Medical Research Institute in La Jolla, CA, as Professor and Director of the Degenerative Disease Research Program. He has a broad background in protein folding and the UPR, with emphasis on diseases such as diabetes, hemophilia, and cancer. His research focuses on three signaling pathways that emanate from the ER that orchestrate survival and death responses. More recently, his studies have discovered that ER protein misfolding leads to oxidative stress, calcium mobilization, and inflammatory responses.


Deborah A. Nickerson, Ph.D.

Professor of Genome Sciences,
University of Washington School of Medicine, Seattle, Washington
Northwest Genomics Center

Dr. Deborah A. Nickerson is an internationally known geneticist focused on the application of genomic technologies. Dr. Nickerson is a Professor of Genome Sciences at the University of Washington (UW), who, for two decades, has pioneered the development of new methods and tools that have been widely adopted for the identification and genotyping of human sequence variation, including single nucleotide variations (SNVs), insertion-deletions (indels) and copy number variations (CNVs). Her recent work has focused on developing and applying robust methods for next-generation sequencing technology. She is PI of several national, multi-institutional projects.


Tadashi Suzuki, Ph.D.

Team Leader, Glycometabolome Team
RIKEN, Japan

Dr. Tadashi Suzuki discovered NGLY1 over 20 years ago and continues pioneering work in the analysis of mouse models. His research currently focuses on how peptide:Nglycanase (PNGase) releases N-glycans from glycoproteins. The cytoplasmic PNGases, ubiquitously found throughout eukaryotes, are now widely recognized as a component implicated in the ERAD (ER-associated degradation) process, which constitutes one of the quality control machines for newly synthesized misfolded glycoproteins exported out of the ER lumen. The catabolic pathway for the “free” N-glycans released by the PNGase in the cytosol remains largely unknown. Although this “non-lysosomal” metabolic path for N-glycan may represent one of the very basic biological phenomena in eukaryotes, there are still many more enzymes/transporters that remain to be identified. Dr. Suzuki’s laboratory is currently trying to identify other players involved in this process, and examining a number of approaches to analyze the physiological importance of this nonlysosomal metabolic pathway.


Lynne Wolfe, M.S., C.R.N.P.

Genetic Nurse Practitioner
Undiagnosed Disease Program, National Institutes of Health

Ms. Lynne Wolfe is currently managing the EPI-743 clinical research protocol at NIH. Her expertise is especially focused on Congenital Disorders of Glycosylation. Ms. Wolfe has been a nurse for over 25 years and a Metabolic Nurse Practitioner for nearly 15 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 pediatric primary care degree and also her acute care degree. 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. Currently she is working with Dr. Margretta Seashore at Yale. Ms. Wolfe is a great support to families of children with all types of Inborn Errors of Metabolism and Mitochondrial diseases with special interests in Newborn Screening and Fatty Acid Oxidation disorders.


Matt Might, Ph.D.


Dr. Matthew Might is the father of NGLY1 patient Bertrand Might. Dr. Might is a professor in the School of Computing at the University of Utah, where he leads the U Combinator software systems research lab. He has directly received $6 million in research funding from the Department of Defense, the National Science Foundation and the Department of Energy to investigate automated performance optimization, security analysis, provably secure software, high-performance programming languages and medical robotics safety verification. He was recognized with a CAREER award from the National Science Foundation in 2014. He received his Ph.D. in Computer Science from Georgia Tech in 2007. He regularly blogs at http://matt.might.net/articles/ and tweets from @mattmight. Dr. Might wrote about the odyssey leading to Bertrand's diagnosis at http://matt.might.net/articles/my-sons-killer/.


Matt Wilsey, M.B.A.


Matt is a Silicon Valley entrepreneur, investor, and advisor. His investments include Nimble Storage, Practice Fusion, Pinterest, Virtual Instruments, Bonobos, LYFE Kitchen, Caveman Foods, Rinse, Moment, Tout, Pinrose, Need, and Weddington Way. Beyond consumer products and services, Matt advocates for and invests in biomedical research, drug development, and genetic sequencing technologies. Matt spent numerous years as a front-line operator before becoming a healthcare advocate and moving to the investment side. Most recently, Matt was Co-Founder and Chief Revenue Officer of CardSpring, a payment infrastructure company backed by Accel and Greylock. Previously, he ran West coast sales and business development for Howcast.com, where he was responsible for building Howcast's instructional content library, distribution network, and strategic relationships. Prior to Howcast, Matt worked for Kohlberg Kravis Roberts (KKR) on the Capital Markets team focused on new product development, capital raising, and investor relations. Matt's first start-up was the e-commerce platform Zazzle.com, where he was part of the founding team and oversaw strategy and partnerships as Vice President of Business Development. He began his career at the White House and the Department of Defense. Matt holds a B.A. from Stanford University and a M.B.A. from Stanford's Graduate School of Business.


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