David Goldstein, PhD

Discoverer – NGLY1 Deficiency

David Goldstein is a professor of genetics and development in the College of Physicians and Surgeons at Columbia University and director of the Institute for Genomic Medicine in partnership with NewYork-Presbyterian. Dr. Goldstein’s research has focused on identifying the relationship between human genetic variations and diseases. Prior to Columbia, Dr. Goldstein came from Duke University, where he has been director of the Center for Human Genome Variation and the Richard and Pat Johnson Distinguished University Professor, with appointments in the departments of molecular genetics & microbiology and biology. He joined Duke in 2005 after six years at University College London, which named him Honorary Professor in 2007. He received his PhD in biological sciences from Stanford University in 1994.

Tadashi Suzuki, PhD

Discoverer – NGLY1 Enzyme

Graduated from the Department of Biophysics and Biochemistry, Faculty of Science, University of Tokyo in 1992. Obtained a Ph.D. degree in 1997. From 1997-2000 he was a post-doctoral fellow at the Department of Biochemistry and Cell Biology, State University of New York at Stony Brook. During this period he was a JSPS (Japan Society for the Promotion of Science) pre/postdoctoral fellow for young researchers (1996-1998) and JSPS oversea research fellow (1998-2000). In 2000, he was appointed as a research assistant professor. From December 2001 to March 2005, he served as a researcher of the Precursory Research for Embryonic Science and Technology (PRESTO), Japan Science and Technology Corporation (JST). From February 2002 he was also an RCF Assistant Professor at the Undergraduate Program for Bioinformatics and Systems Biology (UPBSB), Department of Biophysics and Biochemistry, Graduate School of Science, University of Tokyo. In January 2004, he was appointed as a visiting associate professor at Osaka University Graduate School of Medicine. From October 2007, he is appointed as a team leader at Glycometabolome Team, RIKEN Advanced Science Institute (ASI).

Lynne Wolfe, MS, CRNP, BC

Coordinator – NGLY1 Natural History

Lynne Wolfe has been a Nurse for over 30 years and a Nurse Practitioner working with children and adults who have all types of Inborn Errors of Metabolism and Mitochondrial diseases for 15 years. Currently, Lynne is a Senior Nurse Practitioner & Associate-Investigator in the Undiagnosed Diseases program, a Associate-Investigator for the Epi-743 trial, and a Associate-Investigator and the Study Coordinator in the Congenital Disorders of Glycosylation Natural History study at National Institutes of Health. This includes a special NGYL1-CDG focused cohort study. Her areas of interest include: Congenital Disorders of Glycosylation, Mitochondrial Disease/dysfunction, treatment of rare diseases, nutrition and supplement support for metabolic and mitochondrial diseases, and Transitional Care all areas she has also published in. She is speaks frequently to professional and family support groups.

Karen Ho, PhD

Karen Ho first met Bertrand Thomas Might when he was 17 months old, and was instantly charmed by his bright eyes, delightful smile, and deliciously handsome curls. As a mother of two boys herself, the Mights’ energy, passion, and devotion to their remarkable son deeply resonated with her and inspired her to join Team Bertrand. Karen’s great love for science was fueled by a Marshall Scholarship that she spent in Cambridge, England, studying the evolution of the insect body plan under the wise and wonderful tutelage of Professor Michael Akam. She was then introduced to the Awesome Power of Fruit Fly Genetics at Stanford University, where she earned a PhD in Developmental Biology. She completed her postdoctoral training as both an HHMI Postdoctoral Fellow and National Sleep Foundation Fellow at the University of Pennsylvania in the Department of Neuroscience. She works as a Genetic Research Scientist at Lineagen, Inc., where she does clinical research in precision medicine to aid in the genetic evaluation and medical management of neurodevelopmental disorders in children. She lives with her husband and her two sons in the beautiful mountains of Salt Lake City, UT. She considers it the highest honor of her life to be striving alongside the NGLY1 families to find appropriate, effective treatments for N-glycanase I Deficiency.

Christina Lam, PhD

Christina Lam is an assistant professor of pediatrics at the University of Washington School of Medicine (UW) and an attending physician at Seattle Children’s Hospital (SCH). She provides inpatient and outpatient clinical services in biochemical genetics at UW/SCH, and is establishing a clinic there focused on CDGs. Dr. Lam joined UW/SCH after completing her medical biochemical genetics fellowship in the intramural program of the National Human Genome Research Institute at the National Institutes of Health (NIH). While at the NIH, she was the inaugural principle investigator of the Congenital Disorders of Glycosylation (CDG) Natural History Study under which a cohort of individuals with NGLY1 deficiency was studied.  She continues to participate in this study as an associate investigator and her research focuses on the clinical aspects of inborn errors of metabolism, especially CDGs.  She received her MD in 2007 at UCLA and subsequently completed her pediatrics and medical genetics residency at the same institution.