Gregory Enns, M.D., Ph.D.
Associate Professor of Pediatrics (Genetics)
The Lucile Packard Children's Hospital
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
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
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
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
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.