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    Biochemical Genetics Division of Genetic Medicine, Department of Pediatrics 2017 Newsletter: Seattle Children’s Hospital / University of Washington CONTENTS: Overview of the Program 1 Inborn errors of metabolism are inherited disorders Staff that cause a disruption or abnormality in one of the 1 biochemical pathways involved in the production or Clinical Activities 3 breakdown of proteins, fats, or carbohydrates. Dietary Management of IEM at SCH 3 CDG Program at SCH 4 Our Biochemical Genetics Program offers Lysosomal Disorders 4 immediate resources for intervention by a Newborn Screening 4 specialized team of physicians and other Urea Cycle Disorders Program 5 specialized health care providers and is supported Laboratory Updates 6 by a diagnostic laboratory that aids in diagnosis Biochemical Genetics Lab (SCH) 6 and management of children and adults. Serving Molecular Genetics Lab (SCH) the large population of Washington State and 7 neighboring regions, the Biochemical Genetics Research & Development Laboratory 7 program provides a comprehensive Education & Training 8 multidisciplinary evaluation, diagnosis and long- Inborn Errors of Metabolism Conference 9 term management program for patients and their Clinical Trials 9 families (/http://www.seattlechildrens.org/clinics- Disease Registries 10 programs/biochemical-genetics/.) Research Projects 10 Awards, Grants, Honors 11 Subspecialty clinics include the Cristine M Trahms Extramural Presentations 11 Program for Phenylketonuria (PKU Clinic-UW), Intramural Presentations Biochemical/Metabolic Genetics clinics (SCH/UW), 12 Lysosomal Disorders Clinic (UW/SCH), Urea Cycle Publications 12 Disorders Clinic (SCH/UW), Congenital Disorders Other Activities 14 of Glycosylation Clinic (SCH), and the Wilson Disease Clinic (SCH). Satellite clinics are held two times per year in Spokane. Biochemical Genetics is actively involved in research studies funded by industry and OVERVIEW: government. Biochemical Genetics offers clinical trials working to benefit rare metabolic patients. We The Biochemical Genetics program at Seattle also provide extensive education for professionals Children’s Hospital (SCH) and the University of and our patients. Washington (UW) provides diagnostic expertise and ongoing follow-up of over 1800 patients with inborn errors of metabolism.

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    2017 BIOCHEMICAL GENETICS PROGRAM FACULTY AND STAFF All the nurses can and do work together and separately as members of the Biochemical Faculty and Staff changes in 2017: Genetics team, handling a multitude of complex communications that often need a lot of In 2017 we welcomed Sirisak Chanprasert, MD, to choreography, lab testing coordination and the Lysosomal Storage Disorders Program at the paperwork issues as well as the more traditional University of Washington. He provides clinical nursing roles directly connected to clinic. services to adult patients with Fabry, Gaucher, Pompe, and Another addition to our staff this year is Jacob the Mucopolysaccharide Kelliher, BS, MHA as our Fellowship Coordinator diseases at the University of for the new Biochemical Washington Medical Center. Genetics Fellowship Program. Dr. Chanprasert graduated Jacob comes to us from Saint from the Faculty of Medicine, Louis University, returning to Siriraj Hospital, Mahidol the area that was once home. University, Bangkok, Thailand. In a short time, Jacob has After completing his internal proven to be a very valuable medicine residency at Bassett Medical Center, asset to our staff and we look Cooperstown, NY, he went on to finish a medical forward to the inaugural year genetics and medical biochemical genetics of the fellowship program being well orchestrated. residency and fellowship at Baylor College of Medicine, Houston, TX. He is one of a few Another happy note – Jenny Howell, our GC in the physicians who are board certified in internal group has taken on her husband’s name following medicine, medical genetics, and medical her wedding and is now Jenny Thies. You can find biochemical genetics. In addition, he completed a her under that name now! one-year mitochondrial medicine research fellowship at the Seattle Children’s Research Attending Physicians Institute in the Center for Developmental Therapeutics. After completing his training, he C. Ronald Scott, MD joined the Division of Medical Genetics, Sihoun Hahn, MD, PhD Department of Medicine, University of Washington J. Lawrence Merritt, II, MD School of Medicine. Angela Sun, MD Christina Lam, MD In 2017, we welcomed Marie Norris, MS, RDN, CD, Sirisak Chanprasert, MD CNSC as a new Dietitian to Anne Leavitt, MD (PKU Clinic) Seattle Children’s clinical group. Marie had been with Seattle Registered Nurses (SCH) Children’s as a clinical dietitian Emily Burnham, RN, BSN, CPN and moved to our specialty Julie Spink, BSN, RN, CEN clinic early in 2017. We are so Siri Sherman-Giere, RN, BSN, CPN glad she is here. At the same Andrea Hartgraves, RN, BSN, CPN time, we had to say goodbye to Edie Anyieni, RNC, BSN Melissa Edwards who moved to another group to better facilitate Metabolic Dieticians: her career plan. We miss her, but do wish her all Sarah Sullivan, MS, RDN, CD (SCH) the best. Marie Norris, MS, RDN, CD, CNSC (SCH) Kelly McKean, MS, RDN, CSP, CD (SCH) We are also pleased to announce that Julie Spink, Beth Ogata, MS, RDN, CD (UW) BSN, RN, CEN has joined Biochemical Genetics as Janie Heffernan, MS, RDN, CD (UW) one of our nurses. She is very experienced in Mari Mazon, MS, RDN, CD (UW) pediatrics and emergency room work and is a wonderful addition Genetic Counselors: to our staff. Her presence helps Jenny Thies, MS, LGC (SCH) tremendously since Edie Anyieni Jie Feng, MS, LCGC (UW) has shifted to part time due to family needs. Emily Burnham Social Workers has become the primary Andrea Barry-Smith, MSW, LICSW, JD (SCH) Biochemical Genetics RN now. Janet Hamovitch, MSW (UW) 2

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    Research Associates Linnea Brody, MPH, CRA Dietary Management for Inborn Errors of Metabolism at SCH Fellowship Program Coordinator Jacob Kelliher, BS, MHA The Biochemical Genetic Nutrition (BCG) Program at Seattle Children's Hospital provides medical nutrition therapy to a variety of inborn errors of metabolism (IEM). Nutrition therapy for these .To refer a patient: various IEM disorders is often the cornerstone of the medical treatment, so the dietitians work closely  Seattle Children’s Hospital: Please visit the with the BCG physicians to ensure the most website www.seattlechildrens.org and follow appropriate nutrition plan for each patient. instructions for Healthcare Professionals referral process. Alternatively, call 206-987- When an individual is diagnosed with an inborn 3012 for additional information. error of metabolism the dietitians work diligently to initiate the most appropriate nutrition plan of  University of Washington: 206-598-1800 care. Significant education and support is provided to the patient and their family to support their success. Each nutrition plan is tailored to each 2017 Clinical Activities: individual in order to support normal growth In 2017, SCH and UW had over 1800 encounters and development, their specific nutrient encompassing outpatient visits and inpatient requirements and appropriate modifications to consultations with biochemical genetics. Major macronutrients (such as carbohydrates, proteins or disorders seen in our clinic and hospital are fat). This includes supporting individuals who eat by summarized in Table 1. Some of the subspecialties mouth, as well as those who require feeding tubes of our program are highlighted below, but we see to meet their nutrition needs. During acute and welcome any patient with metabolic disorders inpatient admissions sometimes specialized or who needs evaluation regarding diagnosis, parenteral nutrition solutions are required, which treatment or ongoing medical care. would be managed by the BCG dietitians. Table 1. Major Disorders in 2017 at Seattle The BCG dietitians have in-depth knowledge of the Children’s & University of Washington Clinics numerous metabolic formulas available for patients and work with families to find a product that will be Lysosomal Storage Disorder best tolerated and meet their needs. This past year Phenylketonuria they coordinated a cooking class, through support Organic Acid Disorder of a formula company, to offer families an Amino Acid Disorder opportunity to network and learn new recipes and ideas for home. Urea Cycle Disorder Peroxisomal Disorder All of the biochemical genetic dietitians at Seattle Fatty Acid Oxidation Disorder Children's are members of Genetic Metabolic Cobalamin Metabolism Disorder Dietitians International (GMDI), which is an organization that works to provide standards of Mitochondrial Disorder excellence and leadership in nutrition therapy for Congenital Disorders of Glycosylation genetic metabolic disorders. Sarah Sullivan is co- Wilson Disease chair of the GMDI technology committee and has Developmental Delay worked to support MetabolicPro, an online tool that Failure to Thrive supports biochemical genetic dietitians with nutrition calculations. Marie Norris joined us in Seizure Disorder March 2017 and is involved in projects to Carbohydrate Metabolism disorders streamline and improve charting. Kelly McKean, Biotinidase Deficiency has been with our team since the start, and now Biopterin Deficiency helps cover clinic in Bellevue and is a leader in the nutrition department for patient education. Nephrogenic Diabetes Insipidus 3

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    term follow-up of patients with these rare diseases Table 2. Lysosomal Storage Disorders in is essential. 2017 Patient education and support meetings are held Gaucher Disease periodically, providing patients and their families an Fabry Disease opportunity to mingle with other families and hear Pompe Disease about recent advances in the field. MPS I (Hurler Syndrome) MPS II (Hunter Syndrome) There is much ongoing research in the field of MPS III (Sanfilippo Syndrome) lysosomal storage disorders. The UWMC and SCH MPS IV (Morquio Syndrome) teams currently have active patient registries for MPS VI (Maroteaux-Lamy Syndrome) MPS I, MPS II, MPS IV, MPS VI, Pompe disease, MPS VII (Sly Syndrome) Fabry disease, and Gaucher disease. The clinic Mucolipidosis II team follows a large cohort of patients across the GM1 gangliosidosis spectrum of LSDs as illustrated in Table 2 and long Niemann Pick type C term follow-up of patients with these rare diseases Alpha-mannosidosis is essential as is continuing to keep abreast of new developments in therapies and care. A clinical trial Tay Sachs Disease for Hunter syndrome is in progress at SCH under IRB approval to evaluate long term safety and At University of Washington, the primary metabolic clinical outcomes of intrathecal Idursulfase enzyme dietitian is Beth Ogata, is also a member of GMDI replacement. Another clinical trial on patients with and a member of the GMDI Technology Committee. Pompe disease to evaluate the efficacy and safety She also is in workgroups for Nutrition of alglucosidase alfa produced at the 4000 L scale Management Guidelines for MSUD and Nutrition was successful and the medication was approved Management Guidelines for PKU. by the FDA. The Congenital Disorders of Glycosylation The New born Screening Program (CDG) Program at SCH Since Washington State’s Newborn Screening The CDG program at Seattle Children’s was Program began in 1963 with PKU, the Biochemical established in 2017, with patients scheduled into a Genetics Program has been providing confirmatory quarterly clinic. Dr. Christina Lam is currently the diagnostic testing, clinical treatment and care primary physician for these patients and she looks coordination for babies identified with metabolic forward also to initiation of a new study for these diseases from infancy to adulthood. The disorders in 2018. In 2017, there were 2 patients Biochemical and seen here for this relatively new group of diagnoses Molecular Genetics and interest in the clinic remains high. Laboratory staff works very hard to prioritize The Lysosomal Storage Disease (LSD) and analyze these Program at UW/SCH samples as quickly as possible. In 2017 Washington State screened for 6 The LSD program provides multidisciplinary care amino acid disorders, 5 fatty acid oxidation including consultation, examination, testing/ disorders, 7 organic acid disorders, and 10 other diagnosis, treatment, monitoring, and genetic congenital disorders. Details of each disorder can counseling for patients with lysosomal storage be found at www.doh.wa.gov/nbs . diseases and their families. The patients' medical home is centered with the Biochemical Genetics We continue to be actively involved with the team. The program is dedicated to the Western States Regional Genetics Network management of these rare diseases and provides (http://www.westernstatesgenetics.org/) to study care by UWMC and SCH specialists in many areas the outcomes of infants with abnormal newborns of medicine including ophthalmology, orthopedics, screens and, in particular, the long-term outcomes cardiology, neurology, nephrology, pulmonary, of infants identified with Very Long-Chain Acyl-CoA otolaryngology, neurodevelopmental, radiology and Dehydrogenase (VLCAD) Deficiency. anesthesia. Our group also works with local hospitals to facilitate transition of treatment to The Washington State Department of Health (DOH) centers closer to each patient's home or for continues to provide the Newborn Screening infusions to be done in the patient’s home. Long confirmation & follow-up program possible with contract funding for the consultative services and 4

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    additional testing required to confirm or rule out Current Newborn Screening Staff: presumptive diagnoses. This confirmatory diagnosis allows for the earliest possible treatment Office Director: John D.Thompson, PhD, MPA, to begin, giving these children the best quality of life MPH and in some cases a normal or nearly normal Laboratory Supervisor: Fonda Olsen, MS lifestyle that would not have been possible without Laboratory Quality Assurance this early care. DOH also continues to provide Coordinator: Santosh Shaunak, BS contract funding for metabolic dietitian services for Follow-up Supervisor: Lani Culley, MPH the Newborn Screening Follow-up Program, as well Health Services Consultants: Carol Nucup-Villaruz, as for outreach services for semi-annual outreach MD, Megan McCrillis, MPH, Christine Nguyen, BS Biochemical Genetics Clinics in Spokane. Quality Assurance Supervisor: Ashleigh Ragsdale, MPH The Newborn Screening Program is partnering with Quality Assurance: Gauri Gupta, MScPH; Heidi researchers at the University of Washington to Lovejoy refine the lab method for detection of lysosomal Laboratory Leadworkers: Tim Davis, Bill Hoffman, storage diseases (LSDs) in infants through Greg Olin, Aihong Thai, Arun Singh newborn screening. The data to date indicates that Laboratory Chemists & Microbiologists: Brenda the prevalence of Fabry, Pompe and Angulo, Aaron Boyce, Sarah Hasselbalch, Luis Mucopolysaccharidosis Type 1 (MPS-1) is two to Loyola, Joshua Oakes, Benjamin Peprah, Aranjeet four times greater than the prevalence estimates by Singh, Abbey Werede, Gretchen Zych clinical diagnosis. It is apparent that the tandem Support Staff: Relasha Sampson, Elizabeth Rankin mass spectrometry method can be expanded to detect additional LSDs from a single blood spot for The Urea Cycle Disorders (UCD) Program at which therapy exists or is being developed. Future SCH provides multidisciplinary care including plans include the addition of at least five more consultation, examination, testing, diagnosis, lysosomal storage diseases to the new assay: MPS treatment, and genetic counseling for patients with Type II, MPS Type IV-A, MPS VI, neuronal ceroid urea cycle disorders and their families. Our goal is lipofuscinosis (NCL-2), and lysosomal acid lipase to provide patients and families with a (LAL) deficiency. comprehensive medical home that is centered on the patient and family. Our mission is to provide each patient with the knowledge, ability, and proper Table 3. 2017 Newborn Screening Totals of tools to allow them to manage their disorder. The Confirmed Conditions biochemical genetics team is the core within a larger program dedicated to the management of Condition Severe Mild these diseases and providing care by UWMC and SCH specialists in many areas of medicine ASA/CIT 1 including psychology, neurodevelopment, neu- rology, gastroenterology, and organ transplant. The BIO 1 clinic team follows a large group of children and CUD adult patients across the spectrum of UCDs. Our GAI 1 group also works with local hospitals to coordinate GALT the treatment of care during acute emergencies 4 and in routine follow-up closer to each patient's HCY home. HMG/MCD IVA 2 We are active members of the Urea Cycle Disorders Consortium Longitudinal study, LCHAD 1 sponsored by the Rare Disease Clinical Research MCAD 7 1 Network at the National Institute of Health MMA 3 (http://rarediseasesnetwork.epi.usf.edu/ucdc/) along with the National Urea Cycle Disorders MSUD Foundation (www.nucdf.org) in order further PKU 3 improve treatment, quality of life, and our understanding of UCDs and to implement newborn VLCAD screening for all UCDs – including ornithine Total 23 1 transcarbamylase deficiency. We are also actively involved in multiple collaborations with urea cycle Does not include 9 other non-panel conditions disorder support groups and with clinical research identified: one Citrin deficiency, six 3-MCC cases, one 2-MBDH deficiency case, and one GA-2 case. trials developing novel treatments of UCDs. 5

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    2017 LABORATORY UPDATE: Table 5. High Volume Tests in 2017 Biochemical Genetics Laboratory (SCH) Test Analytic Method # Analyses Fragment Analysis, Fragile X Molecular Genetics Laboratory (SCH) Southern Blot 254 Prader Willi (http://www.seattlechildrens.org/geneticslab) /Angelman Syndrome Methylation PCR 33 Gaucher Disease Sequencing 1 The Biochemical Genetics Laboratories (SCH) are MCAD Sequencing 29 led by Dr. Sihoun Hahn and Dr. Rhona Jack. In Muscular Dystrophy MLPA 6 2017, they were joined by Dr. Anna Scott. Test Pyridoxine- Sequencing Dependent Seizure ALDH7A1 gene 0 volumes in the labs are summarized in Table 5. POLG 1 Sequencing 14 The Biochemical and Molecular Genetics Spinal Muscular 14 PCR Atrophy Laboratories serve as a key component of the Spinal Muscular 23 Biochemical Genetics Program. The laboratories Atrophy Carrier MLPA provide rapid, comprehensive diagnostic and Testing VLCAD Sequencing 4 monitoring results along with guidance for follow-up. Wilson Disease Sequencing 12 GCK Sequencing 5 Our laboratory is committed to high quality results. KCNJ11 Sequencing 2 To ensure accuracy, the laboratory is participating HNF1A Sequencing 11 in a variety of external proficiency testing programs HNF4A Sequencing 11 offered by various national and international ABCC8 Sequencing 0 INS Sequencing 0 agencies (ERNDIM; European network, CAP; MODY Panel Sequencing 35 College of American Pathologists, CDC; Center for CHI panel Sequencing 2 Disease Control). Neonatal Diabetes 1 Sequencing panel The Molecular Development Laboratory (UW) Connexin Sequencing 17 Amino Acid Analysis HPLC 1807 (http://depts.washington.edu/moleclab) Phenylalanine / HPLC 690 Tyrosine The molecular development lab is directed by Dr. C. Organic Acid Analysis GC/MS 1192 Ronald Scott, a pioneer in the area of research and Acylcarnitine profile MS/MS 993 development for diagnosis and treatment of Carnitine profile MS/MS 581 metabolic disorders. Additional scientist Jie-Yu Alpha aminoadipic LC/MS/MS 245 Huang, PhD, has 25 years research experience in semialdehyde Pipecolic acid LC/MS/MS 39 molecular biology. The laboratory is in its tenth year Oligosaccharide TLC 107 and is a CLIA-certified clinical lab that offers DNA Very long chain fatty GC/MS 119 analysis for Gaucher, Congenital Sucrase- acids (peroxisomal) Isomaltase Deficiency (CSID), and Tyrosinemia. MPS Dye Binding 137 Succinylacetone GC-MS 21 QNT Research and Development (R&D) Laboratory MMA, plasma LC-MS/MS 228 Enzyme Testing Fluorometric http://www.seattlechildrens.org/research/integrative Lysosomal Acid Lipase 4162 -brain-research/our-labs/hahn-lab/ Alpha-galactosidase 20 Alpha-glucosidase 86 The Biochemical Genetics program’s CLIA-certified Beta-galactosidase 1 R&D Laboratory is located at the Seattle Children’s Hexosaminidase 5 TPP Tripeptidyl peptidase (NCL2) 70 Research Institute (SCRI): Center for Integrative PPT Protein palmitoyl transferase Brain Research (Center Director. Dr. Jan-Marino 68 (NCL1) Ramirez). The facility is fully equipped with a LC- Arylsulfatase A 10 MS/MS and an Illumina Genome Analyzer IIx. Beta-glucosidase 13 Since 2007, the R&D team has continuously Biotinidase 12 focused their efforts on refining current Galactose 1 Phosphate 39 methodologies and developing new tests, with a Galactose-1-PUT 12 fundamental goal to improve clinical practice Miscellaneous enzymes 18 through the implementation and integration of Total number as noted 11149 routine laboratory testing. In particular, the lab aims to develop and validate clinical tests to diagnose various metabolic and genetic disorders by utilizing tandem mass spectrometry. The R&D team has a long-standing interest in developing a mass spectrometry based assay for 6

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    diseases characterized by the absence and/or development in patients with infantile PD and reduction of protein markers. We use a highly improve pulmonary functioning, stabilize disease sensitive and targeted analytical technology, progression, and reduce biochemical parameters in selected reaction monitoring mass spectrometry patients with MPS I. However, a universal efficacy (SRM-MS), to measure peptides of our interest, is limited as some patient populations will develop which enables more efficient translation of protein immune-mediated inhibitory reactions (neutralizing markers into clinical use as screening and antibodies) to the exogenously supplied therapeutic diagnostic tests. As proof-of-concept, we enzymes. Patients with PD who develop sustained previously demonstrated that SRM-MS analysis of high titers of neutralizing antibodies to ERT that signature peptides can correctly identify patients render the treatment ineffective usually also have lacking specific protein markers of three life- poor clinical outcomes. Immunomodulation for threatening Primary Immunodeficiency Disorders these groups of patients, ideally before ERT begins, (Proteomics Clin Appl, 2012, R21AI85488). Our would improve treatment efficiency. Rapid efforts (R56AI106784, R21HD069890, and CRFS- detection of immunogenic potential would allow for 2015-004) to improve the sensitivity of our assay by pre-emptive patient immunomodulation and combining SRM-MS with antibody-based increased therapeutic efficacy. Her work aims to enrichment of target peptides (immuno-SRM) harness this technology in the quantification of showed that the method can detect extremely low peptides of target proteins associated with abundance marker proteins of congenital disorders immunogenicity to ERT in patients with PD and such asCD3e (for SCID), BTK (for XLA), WASP (for MPS I. By developing a rapid and accurate assay WAS), CTNS (for Cystinosis), and ATP7B (for for detecting specific biomarkers, she hopes to Wilson disease) in dried blood spots. In 2016, we reduce immunogenic reactions to ERT and improve published the proof-of-concept study demonstrating the clinical outcomes of patients with these that the immuno-SRM assay readily distinguishes treatable metabolic disorders. affected cases of Wilson disease from normal controls (p<0.0001) (Journal of proteome research, 2016). We also received a NIH grant (R01AI123135) to further study and develop a multiplexed immuno-SRM assay for screening11 different primary immunodeficiency disorders. We believe that our proteomics based approach will provide an efficient and inexpensive screening for a broad range of genetic disorders. At the heart of translational research, the R&D Laboratory’s goal is to bridge basic research and the clinical applications of novel tests developed for effective patient diagnosis and treatment. Current staffs of the R&D team include Christopher Collins, EDUCATION / TRAINING IN CLINICAL PhD and Remwilyn Dayuha, BS which is led by Dr. BIOCHEMICAL GENETICS Sihoun Hahn. Dr. Irene Chang has been working in Dr. Hahn’s Fellowship in Medical Biochemical Genetics: laboratory in 2017 to develop a novel and innovative assay for Pompe disease using tandem The University Of Washington School Of mass spectrometry. Her work titled Medicine’s, Medical Biochemical Genetics as “Immunogenicity screening and predicting need Fellowship is based at Seattle Children’s Hospital for immunomodulation by quantification of and provides care to children and adults at Seattle proteolytic peptide biomarkers in dried blood spots Children’s Hospital and the University of of patients with Pompe Disease and Washington. Our program covers a diverse Mucopolysaccharidosis Type I” has been recently population from a large region covering five states granted as ACMGG fellowship award. in the Pacific Northwest. Fellows will have an opportunity to participate in clinical care and learn Pompe disease (PD) and MPS I are recessive from patients from all areas of inborn errors of diseases characterized by decreased or absent metabolism in clinic, will act as a member of the acid α-glucosidase (GAA) and alpha-L-iduronidase primary admitting in-patient service and hospital (IDUA) enzymes, respectively. Enzyme consultation service. Fellows will also have replacement therapy (ERT) is effective at opportunities to participate in the vast clinical and prolonging survival and protecting cognitive basic science research programs at both 7

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    institutions and in the clinical biochemical genetics hospital campus regularly. He laboratory to learn the complex interpretation of has returned to Korea to the biochemical genetic testing. directorship of his own clinical group. During the year, fellows have an intensive exposure to inpatient and outpatient biochemical genetics The PKU and Biochemical and nutrition. Fellows are exposed to a wide variety Genetics Programs also of acute and chronic inborn errors of metabolism provide ongoing training to with exposure to treatment through nutritional residents, medical students, nutritionists, social manipulation, medications, enzyme replacement workers, and others through didactic instruction and therapy, and solid organ or bone marrow clinical experiences. transplantation. Through the year, fellows will have the opportunity to rotate in the Biochemical INBORN ERRORS OF METABOLISM Genetics Laboratory. Fellows are encouraged and CONFERENCE, HOSTED MONTHLY BY supported in presenting their research at national BIOCHEMICAL GENETICS AT SEATTLE and international meetings. This training focuses on CHILDREN’S HOSPITAL (CME Level II providing fellows the skills necessary to become attached) independent academic medical biochemical geneticists. IEM Conference is held every first Wednesday of the month, with the exception of the August hiatus. http://www.washington.edu/medicine/pediatrics/fello This Conference is open to any interested wships/overview/medical-genetics members of all specialties and provides a chance to hear and present new interesting cases and We are excited to announce our first Medical diagnostic puzzles, as well as laboratory tests and Biochemical Genetics Fellow will be Irene Chang, process updates. Presentations are made by a MD, starting in July, 2018. variety of providers, fellows, visiting experts from In addition to the formal fellowship program, the many specialties and topics can vary widely. This Biochemical Genetics training program at UW is conference provides an interesting and open venue accredited by the American Board of Medical for the presentation of varied types of cases and Genetics and leads to eligibility to sit for the Clinical histories. Biochemical Genetics examination. The goal of the This conference functions as a teaching event for program is to provide medical genetics residents fellows, residents, students and it also provides with a sound academic, clinical, and laboratory ongoing educational credit at CME Leve II category. understanding of the diagnosis, treatment and management of patients with inborn errors of metabolism. These residents are also exposed to 2017 Schedule of IEM Conference and review the complexities and processes of the Newborn Screening program, a crucial tool in presentations: detecting these disorders as early as possible. Topic Presenter In 2017, Dr. Ken Ndugga-Kabuye had a three month rotation in clinical biochemical genetics from January Hiatus – schedules in conflict January through March at Seattle. Dr. Jennifer “Role of liver transplantation for Niviann Blondet, MD Dines was with us for a similar rotation from April glycogen storage disease type 4.” through June 2017. Biochemical Genetics also “Of transport and Golgi Ken Ndugga-Kabuye, MD provides rotations for residents of other specialties organization 2...” to provide a greater knowledge of the complexities “Hyperkalemic Periodic Sarah Bauer Huang, MD and range of many of the conditions and disorders Paralysis.” referred here. There is emphasis on the need to “Sly Syndrome.” Ken Ndugga-Kabuye, MD maintain a coordinated collegial approach in the “Metabolic Liver Disease in Simon Horslen, MB, ChB diagnosis and care of these patients, whose Children: Who Can Benefit from conditions cross the boundaries of many specialties. Liver Transplantation?” Ken Ndugga-Kabuye, MD "Inborn errors of ketogenesis and In 2017, Jeongho Lee, MD, PhD took on a year- ketone body utilization." long program with Dr. Hahn. Dr. Lee came to us "Epilepsy in Inborn Errors of Jenn Dines, MD from Korea as a neurologist with special interest in Metabolism" clinical biochemical genetics. He worked with Dr. “Novel Therapies in Inborn Errors Angela Sun, MD Hahn in his research lab and was also at the of Metabolism.” 8

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    “The many faces of POLG1 - Juliane Gust, MD Subjects under Two Years of Age with Urea mitochondrial DNA depletion Cycle Disorders (UCDs) (HPN-100-009) Horizon syndromes.” Therapeutics, Inc. (4/22/2015-1/27/2017) Site PI: “Proteolytic Quantification of Irene Chang, MD J. Lawrence Merritt, II GAA in Dried Blood Spots by Peptide Immuno-SRM: Potential Development of a Long-term Outcome Study of Screening for Immunogenicity in Newborn Screening for Urea Cycle Disorders Pompe Disease.” (NBS+UCD) Horizon Therapeutics, Inc. “Newborn Screening and Post- Investigator Initiated Study 2/5/2015-2/4/2017 Screening Biochemical Analysis of Michael Gelb, PhD (2014-2017) PI: J Lawrence Merritt, II Lysosomal Storage Diseases and a Few Others.” HGT-HIT-046 An Open-Label Extension Study of "The Heart of it: Cardiomyopathy Jenn Dines, MD HGT-HIT-045 Evaluating Long-Term Safety and and IEM." Clinical Outcomes of intrathecal idursulfase -IT Hiatus – August (8/2/17) Administered in Conjunction with Intravenous “Update on treatments in Elaprase® in Pediatric Patients with Hunter Susan Apkon, MD Syndrome and Cognitive Impairment; P.I.: Duchenne Muscular Dystrophy and Spinal Muscular Atrophy.” Angela Sun; Co PI: Sihoun Hahn. Funding: Shire “Niemann-Pick Disease Type C: A review and an update. If they A Four-Part, Phase 3, Randomized, Double- Michael Raff, MD can’t look up, you need to look it Blind, Placebo-Controlled, Four-Arm, up.” Discontinuation Study to Evaluate the Efficacy “PIGA Deficiency: Not Just and Safety of Subcutaneous Injections of BMN Irene Chang, MD Paroxysmal Nocturnal 165 Self Administered by Adults with Hemoglobinuria” Phenylketonuria. 7/1/2015 – 12/31/2018, 165-302, “Atypical PKU - BH4 deficiency.” Jeongho Lee, MD, PhD BioMarin. Scott, C. Ronald (PI), Leavitt, Anne M. (Co-PI), Jie Feng (Coordinator) “HSD10 Mitochondrial disease.” Ken Ndugga-Kabuye, MD Individual Patient, Emergency IND (FDA IND # “Creatine Deficiency 123292 July 2014 to present) Emergency Use of Syndromes.” Angela Sun, MD Triheptanoin (UX007) in Neonatal-Onset Very Long-Chain Acyl-CoA Dehydrogenase Deficiency. PI: Lawrence Merritt, II FUNDED CLINICAL TRIALS AND Individual Patient, Non-Emergency FDA IND # RESEARCH PROJECTS AT SEATTLE 129399 Individual Patient, IND. Non-Emergency CHILDREN’S AND THE UNIVERSITY OF Single Patient Expanded Access Treatment of an individual patient with carnitine-acylcarnitine WASHINGTON translocase (CACT) deficiency with UX007 (triheptanoin). PI: J. Lawrence Merritt, II CLINICAL TRIALS: Wilson Therapeutics 101-201. A multi-center study for the assessment of copper parameters Longitudinal Study of Urea Cycle Disorders, in Wilson Disease subjects on standard of care O’Malley Family Foundation. Children’s Research treatment. P.I.: Sihoun Hahn, MD, PhD Institute (Batshaw) (10/1/11 – 7/31/18) Site PI: J Period: 2016-present. Funding: Wilson Therapeutics Lawrence Merritt, II Inc. A Phase 1/2 Open-Label Study In Patients with Wilson Therapeutics 101-301. A Phase 3, Arginase I Deficiency to Investigate the Safety, Randomised, Rater-Blinded, Multi-Centre Study Pharmacokinetics, and Pharmacodynamics of to Evaluate the Efficacy and Safety of WTX101 Intravenous AEB1102 (Protocol# CAEB1102- Administered for 48 Weeks versus Standard of 101A) Aeglea Biotherapeutics, Inc. (12/22/17 – Care in Wilson Disease Subjects Aged 18 and present) Site PI: J Lawrence Merritt, II; Co- Older with an Extension Phase of up to 60 investigator: Angela Sun Months. PI: Sihoun Hahn. Funding: Wilson Therapeutics Inc. An Open Label Study of the Safety, Efficacy and Pharmacokinetics of Glycerol Phenylbutyrate (GPB; RAVICTI®) in Pediatric 9

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    Scott, Turecek, Frantisek (Co-PI) C. Ronald (Co-PI), Jie Feng (Coordinator) DISEASE REGISTRIES: MLD Studies . To field-test a novel assay in a working newborn screening lab to determine its The LSD Registry Program. Principal effectiveness in identifying newborns with Investigators: Site PI, J Lawrence Merritt, II, MD; metachromatic leukodystrophy. 2/26/2016- Co-PI, Angela Sun, MD. Funding: Genzyme 2/25/2019. Michael H Gelb (PI), C. Ronald Scott Corporation. Four long-term natural history studies (Co-PI), Jie Feng, MS, LCGC (Coordinator). of treated and untreated patients with Gaucher, Fabry, MPS I and Pompe diseases. These four Assay validation for MPS-VII in a real-time registries are also at UW with Principal newborn screening lab. Ultragenyx 2-18-2016 - Investigators C. Ronald Scott, and Jie Feng, MS, 12 - 30-2019. Scott, C. Ronald, PI LCGC Multiplexed immune-SRM screening for primary Morquio A Registry Study (MARS), Angela Sun, immunodeficiencies; Funding: NIH/National PI. 2014 – present. Institute of Allergy and Infectious Diseases. (2016- 2020). PI: Sihoun Hahn. A Global Multi-Center, Long-Term, Observational Survey of Patients with Hunter Newborn screening for Cystinosis. Cystinosis Syndrome (Mucopolysaccharidosis II). A long- Research Foundation. 2017-2019. Sihoun Hahn (PI) term natural history disease registry of treated and untreated patients with MPS II. Funding: Shire Human Genetic Therapeutics. Angela Sun,: PI; Sihoun Hahn, Christina Lam, Lawrence Merritt: Co- 2017 AWARDS, GRANTS, HONORS investigators Dr. C. Ronald Scott co-chaired the Clinical and The MPS VI Clinical Surveillance Program. A Laboratory Standards Institute’s (CLSI’s) long-term natural history disease registry of treated Committee on Pompe and Other Lysosomal and untreated patients with MPS VI. Funding: Storage Disorders, whose purpose was to develop BioMarin Pharmaceuticals. Angela Sun,: PI. and publish national guidelines for screening newborn blood spots for Pompe disease (CLSI Report NBS07). RESEARCH PROJECTS: Dr. C. Ronald Scott serves on the national North Assay validation for MPS II, IIIA, and IIIB in a American Tyrosinemia Guidelines committee, real-time newborn screening lab. MPS II/III Pilot hosted by Emory University, to develop national Study, Shire Genetic Therapies. 5/8/2014 – recommendations for the treatment of tyrosinemia. 6/30/2019. C. Ronald Scott (PI); Michael H. Gelb (Co-PI); Jie Feng (Coordinator) Sihoun Hahn, MD, PhD: Chair, Department of Genome Medicine and Science, Gachon University Clinical and Basic Investigations into Known School of Medicine, Incheon, Korea (2015 – and Suspected Congenital Disorders of present) Glycosylation NHGRI Intramural Protocol – 14- HG-0071 Christina Lam,Co-Investigator. Sihoun Hahn, MD, PhD: Director, Gachon Institute (NCT02089789) (2014-2016 – PI) of Genome Medicine and Science, Gachon University School of Medicine, Incheon, Korea Assay validation for MPS II, IIIA, and IIIB in a (2015 – present) real-time newborn screening lab. MPS II/III Pilot Study, Shire Genetic Therapies 5/8/2014 - Beth Ogata, MS, RD, CSP received the Excellence 5/7/2018. Scott, C. Ronald (PI); Gelb, Michael (Co- in Practice – Clinical Practice Award from the PI); Feng, Jie (Coordinator) Academy of Nutrition and Dietetics (October 2017, Chicago, IL) Multiplex Analysis of Inborn Errors of Metabolism to develop sensitive, reproducible assays for the measurement of lysosomal enzymes for the detection of lysosomal storage diseases in dried blood spots. R01 DK DK67859, NIDDK 4/1/2014 – 3/31/2018. Gelb, Michael H. (PI) 10

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    2017 EXTRAMURAL PRESENTATIONS Zarate YA, Gambello M, Pandya Arti, Saenz M, Siu V, Ray J, Sellars E, Sun A, Smith W, Robin N, Picker J, Kirby A, Slavotinek A, Bebin M, Calhoun Invited Presentations A, Smith-Hicks C, Balasubramanian M. Phenotype and Natural history in 49 individuals with SATB2- Sihoun Hahn: Newborn Screening for Rare associated syndrome. David W. Smith Workshop Disorders. Korean Society of Newborn Screening, on Malformations and Morphogenesis, Stowe, April 6, 2017, Seoul, Korea 2017. Platform. Presenting author: Zarate. Sihoun Hahn: Improving Clinical Practice through Chang IJ*, Starr MC*, Finn L, Sun A, Howell J, Integrated Translational Research: Transforming Hingorani SR, Lam C. Novel Variants in COQ2 in the Lives of Future Patients with Rare Disorders. Primary Coenzyme Q10 Deficiency and Steroid- Ilchun Memorial Lecture, The Korean Society for Resistant Nephrotic Syndrome. ACMG Annual Molecular and Cellular Biology. September 14, Clinical Genetics Meeting. Phoenix, Arizona; poster, 2017, Seoul, Korea presenting author Howell J; (2017). B Ogata: Networking with Quality. Co-present with Lam C, Hall PL, Alexander JJ, Asif G, Berry GT, Barbara Grant. Academy of Nutrition and Dietetics Ferreira C, Freeze HH, Gahl WA, Nickander KK, Food & Nutrition Conference & Exhibition. October Sharer JD, Watson CM, Wolfe L, Raymond KM. 24, 2017, Chicago, IL. Urine Oligosaccharide Screening by MALDI-TOF for the Identification of NGLY1-CDDG. Third World B Ogata: Diet and Nutrition. Connecting Families, Conference on CDG. Leuvan, Belgium; poster, UCD Foundation Podcast. Published August 2017. presenting author Lam C; (2017). http://www.ucdfamily.org/ucdtalk/ Clowes Candadai SV, Sikes MC, Howell JM, Dines B Ogata: Connecting Families UCD Foundation. J, Ndugga-Kabuye MK, Byers H, Conta JH, Co-present with CR Scott and Jie Feng. Urea Cycle Hendricks E, Stasi SM, Sternen DL, Bennett JT. Foundation Parent Meeting. May 6, 2017, Seattle, Rapid inpatient genomic testing: doing it the RIGhT WA. Way. Poster presented at: NSGC 36th Annual Conference; September, 2017; Columbus, OH Poster/Oral Presentations Küry S, van Woerden GM, Besnard MT, Cho MT, Sunhee Jung, Jeffrey R. Whiteaker, Lei Zhao, Troy Sanders S, Sellars EA, Berg J, Waugh JL, Kobak L, Torgerson, Amanda G. Paulovich, and Si Houn Bernstein JA, Deardorff M, Hoganson GE, Johnson Hahn. Dried Blood Spot Screening for Primary DS, Dabir T, Sarkar A, Terhal PA, Prescott TE, Immunodeficiencies using Immuno-SRM. MSACL Grange DK, Haeringen A, Lam C, Mirzaa G, Helbig annual meeting, Palm Springs, CA, Jan 22-26, KL, Rosenfeld JA, Agrawal PB, Odent S, Mercier S, 2017 Elgersma Y, Bezieau S. De novo mutations in protein kinase genes CAMK2A and CAMK2B cause S. Hahn, S. Jung, Remwilyn Dayuha, J.Whiteaker, intellectual disability. 67th Annual Meeting of the . L. Zhao, W. Gahl, A. Paulovich Proteomic Peptide American Society of Human Genetics. Orlando, Screening of Dried Blood Spots for Cystinosis. Florida; platform, presenting author Küry S; (2017). Pediatric Academic Society, San Francisco, CA, May 6-9, 2017 S. Hahn, S. Jung, R. Daiyuha, J. Whiteaker, L. 2017 INTRAMURAL PRESENTATIONS Zhao, T. Torgerson, W. A. Gahl, A. Paulovich; Proteomic Peptide Screening of Dried Blood Spots: C. Lam, Invited Speaker; Glycosylation: A Sweet A Potential Clinical Application, European Society Branch of Neuro-Metabolics. Oral presentation at of Human Genetics, Copenhagen, Denmark, May Seattle Children's Hospital Neurology Friday 27-31, 2017 Morning Conference, Seattle, WA Dines J, LaCroix A, Golden-Grant K, McWalter K, C. Lam, Invited Speaker: Congenital Disorders of Sun A, Mefford H. Exome Sequencing Reveals Glycosylation, a Sweet Branch of Biochemical Family Affected with Biallelic TANGO2 Variants. Genetics at Seattle Children's Hospital Pediatrics American College of Medical Genetics Meeting, Grand Rounds, Seattle, WA Phoenix, 2017. Poster. Presenting author: Dines. A Sun, Novel Therapies in Inborne Errors of Metabolism, IEM Conference, Seattle Children’s Hospital 5/3/17 11

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    1993-2018. [updated 2017 May 25]. Available from: A Sun, Creatine Deficiecy Syndromes, IEM https://www.ncbi.nlm.nih.gov/books/NBK1515/ PM Conference, Seattle Childrens, 12/6/17 ID: 20301688 B Ogata, Guest lecturer: Treatment of Metabolic [Peer-Reviewed Journals] Disorders. NUTR 520 (Protein and Carbohydrate Metabolism), University of Washington Nutritional Jung S, Whiteaker JR, Zhao L, Yoo HW, Paulovich Sciences Program. November 2017. AG, Hahn SH. Quantification of ATP7B Protein in Dried Blood Spots by Peptide Immuno-SRM as a B Ogata: Instructor: NUTR 526 (Maternal, Infant, Potential Screen for Wilson's Disease. J Proteome and Pediatric Nutrition), University of Washington Res. 2017 Feb 3;16(2):862-871 Nutritional Sciences Program. Fall 2017 Gericke B, Amiri M, Scott CR, Naim HY. Molecular pathogenicity of novel sucrase-isomaltase mutations found in congenital sucrase-isomaltase deficiency patients. Biochim Biophys Acta 1863(3):817-826. 2017. PMID: 28062276 Liu Y, Yi F, Kumar AB, Kumar Chennamaneni N, Hong X, Scott CR, Gelb MH, Turecek F. Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay for Newborn Screening of the Mucopolysaccharidoses and Type 2 Neuronal Ceroid Lipofuscinosis. Clin Chem, Jun;63(6):1118- 1126, 2017. PMID: 28428354 Liao HC, Spacil Z, Ghomashchi F, Escolar ML, 2017 PUBLICATIONS Kurtzberg J, Orsini JJ, Turecek F, Scott CR, Gelb MH. Lymphocyte Galactocerebrosidase Activity by [Chapters & Educational Publications] LC-MS/MS for Post-Newborn Screening Evaluation of Krabbe Disease. Clin Chem., Aug;63(8):1363- Chang IJ, Hahn SH (2017). The genetics of Wilson 1369, 2017. PMID: 28592445, PMCID: disease. In Anna Czlonkowska, Michael L. Schilsky PMC5533636 eds. Wilson Disease, Handbook of Child Neurology, Volume 142, Pages 2-248. Bodamer OA, Scott CR, Giugliani R, on behalf of the Pompe Disease Newborn Screening Working Merritt, II, JL and Vockley J. UpToDate. Overview Group. Newborn Screening for Pompe of fatty acid oxidation disorders. Updated Disease. Pediatrics 140(S1):S4-S13, July, 2017. December 6, 2017. https://www.uptodate.com/ Mistry PK, Batista JL, Andersson HC, Balwani M, Thomas JA, Lam C, Berry GT. Lysosomal Storage, Burrow TA, Charrow J, Kaplan P, Khan A, Kishnani Peroxisomal, and Glycosylation Disorders and PS, Kolodny EH, Rosenbloom B, Scott CR, Smith Lemli Opitz Syndrome in the Neonate. In Weinreb N. Transformation in pretreatment Avery’s Diseases of the Newborn 10th edition (CA manifestations of Gaucher disease type 1 during Gleason, SU Devaskar, eds) Philadelphia, PA: two decades of alglucerase/imiglucerase enzyme Elsevier/Sauders (accepted 2016 pending 2017). replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher CLSI. Newborn blood spot screening for Pompe Registry. Am J Hematol, 92: 929-939, 2017. PMID: disease by lysosomal acid alpha-glucosidase 28569047 activity assays, 1st ed. CLSI report NBS07. Wayne, PA: Clinical and Laboratory Chinsky JM, Singh R, Ficicoglu C, van Karenbeek Standards Insittute; 2017. Joseph Orsini and C. CDM, Grompe M, Mitchell G, Waisbren CDE, Ronald Scott, editors. Gucsavas-Calikoglu M, Wasserstein MP, Coakley K, Scott CR. Diagnosis and treatment of Sniderman King L, Trahms C, Scott tyrosinemia type I: a US and Canadian consensus CR. Tyrosinemia Type I. In: Adam MP, Ardinger group review and recommendations. Genet Med, HH, Pagon RA, Wallace SE, Bean LJH, Stephens Vol 19, 2017. ® K, Amemiya A, eds. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 12

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    Buroker NE, Ning X-H, Zhou Z-N, Cen W-J, Wu, X- Mercier S*. “De novo mutations in protein kinase F, Zhu W-Z, Scott CR, Chen S-H. SNPs, linkage genes CAMK2A and CAMK2B cause intellectual disequilibrium, and chronic mountain sickness in disability.” Am J Hum Genet. 101(5): 768-788, 2017. Tibetan Chinese. Hypoxia 5:67-74, 2017. PMID PMID 29100089 28770234 Hall PL, Lam C, Alexander JJ, Asif G, Berry GT, Phowthongkum P, Sun A. Novel truncating variant Ferreira C, Freeze HH, Gahl WA, Nickander KK, in DNA2-related congenital onset myopathy and Sharer JD, Watson CM, Wolfe L, Raymond KM. ptosis suggests genotype-phenotype correlation. “Urine Oligosaccharide Screening by MALDI-TOF Neuromuscul Disord. 2017 Jul;27(7):616-618. for the Identification of NGLY1 Deficiency.” J Inherit PMID 28554558. Metab Dis. (accepted 2017). Lam C, Ferreira C, Krasnewich D, Toro C, Latham Starr MC*, Chang IJ*, Finn L, Sun A, Thies J, L, Wadih ZM, Lehky T, Brewer C, Baker EH, Thurm Hingorani SR, Lam C. “COQ2 Nephropathy – A A, Farmer CA, Rosenzweig SD, Lyons JJ, Treatable Cause of Nephrotic Syndrome.”Pediatr Schreiber JM, Gropman A, Lingala S, Ghany MG, Nephrol. (accepted 2017). Solomon B, Macnamara E, Davids M, Stratakis CA, Kimonis V, Gahl WA, Wolfe L. “Prospective Phenotyping of NGLY1-CDDG, the First Congenital Other Activities: Disorder of Deglycosylation.” Genet Med. 19(2):160-168, 2017. Sihoun Hahn, MD, PhD  is on the Medical Advisory Committee, Wilson Carlson RJ, Bond MR, Hutchins S, Brown Y, Wolfe Disease Association International LA, Lam C, Nelson C, DiMaggio D, Jones N,  is a Genetics Section Editor for UpToDate, Rosenzweig SD, Stone KD, Freeman AF, Holland since 2011 SM, Hanover JA, Milner JD, Lyons JJ. “Detection of phosphoglucomutase-3 (PGM3) deficiency by  is on the Advisory Committee for WA State lectin-based flow cytometry.” J Allergy Clin Immunol. Newborn Screening 140(1): 291-294, 2017. PMCID none. PMID  is a Member of the IRB Committee, Seattle 28063873. Children’s Hospital Küry S*, van Woerden GM*, Besnard T*, Onori MP, J. Lawrence Merritt, II, MD, Latypova X, Towne MC, Cho MT, Prescott TE,  is on the American Academy of Pediatrics, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Subcommittee on Apparent Life Threatening Distel B, Robak LA, Bernstein JA, Denommé- Events (ALTE). August 2013 to 2017. (Goal: to Pichon AS, Lesca G, Sellars EA, Berg J, Carré W, create an evidence-based guideline on the Busk ØL, van Bon BWM, Waugh JL, Deardorff M, Management of Apparent Life Threatening Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Events) Holla ØL, Sarkar A, Tveten K, de Bellescize J,  is a Western States Regional Genetics Braathen GJ, Terhal PA, Grange DK, van Collaborative Representative for National Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ,, Newborn Screening Translational Research Douglas J, Santani AB, Nesbitt AI, Helbig KL, Network Andrews MV, Begtrup A, Tang S, van Gassen KLL,  is a Peer Reviewer for UpToDate, Inborn Errors Juusola J, Foss K, Enns GM, Moog U, Hinderhofer of Metabolism topics K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot Angela Sun, MD, E, Simonet T, Ruivenkamp CAL, Hahn S,  is a member of the Seattle Children’s Hospital Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau Clinical Exome Sequencing Committee D, Nizon M, Quinquis D, Chelly J, Rudolf G,  is a Peer Reviewer for UpToDate, Inborn Errors Sanlaville D, Parent P, Gilbert-Dussardier B, of Metabolism topics Toutain A, Sutton VR, Thies J, Peart-Vissers  is a member of the Washington State Newborn LELM, Boisseau P, Vincent M, Grabrucker AM, Screening Technical Advisory Committee Dubourg C, Undiagnosed Diseases Network, Tan  serves as the rotation coordinator for students, W, Verbeek NE, Granzow M, Santen G, Shendure residents and fellows who rotate through J, Isidor B, Pasquier L, Redon R, Yang Y, State Biochemical Genetics MW , Kleefstra T, Cogné B, GEM HUGO,  serves as Preceptor, American College of Deciphering Developmental Disorders study, Medical Genetics and Genomics Summer Petrovski S, Retterer K, Eichler EE, Rosenfeld JA, Scholars Program Agrawal PB, Bézieau S*, Odent S*, Elgersma Y*, 13

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    Christina Lam, MD Jie Feng, MS, LCGC is a member of the National  is on the Program Evaluation Committee for Society of Genetic Counselors and the Medical Biochemical Genetics Fellowship at Metabolic/Lysosomal Storage Disease SIG. Seattle Children’s Hospital, Chair  is an Interviewer for Pediatric Residency Candidates  is on the Rapid Exome Committee for Seattle Children’s Hospital.  is on the Medical Advisory Board Member for CDG Care (CDG Family Support Group), since 2015.  is a Medical Advisory Board Member for NGLY1.org (NGLY1-CDDG)  is Guest Researcher, NHGRI, NIH, Bethesda, MD. Kelly McKean, MS, RD, CSP, CD is a member of the Genetic Metabolic Dietitians International (GMDI) organization. Sarah Sullivan, MS, RDN, CD is a member of the Genetic Metabolic Dietitians International (GMDI) organization. Marie Norris MS, RDN, CD, CNSC  is a member of the Genetic Metabolic Dietitians International (GMDI) Organization  is a member of American Society for Parenteral and Enteral Nutrition (ASPEN)  is a member of the NASPGHAN Council for Pediatric Nutrition Professionals (CPNP) Beth Ogata, MS, RD, CD  is a Working Group Member of the NIH Phenylketonuria Review Conference (Diet Control & Management)  is a member of the Western Regional Genetics Collaborative  is a Grant Reviewer for the Galactosemia Foundation.  is a member of the Genetic Metabolic Dietitians International (GMDI) Technology Committee and a member of the GMDI Nutrition Guidelines Work Groups for MSUD and PKU  Co-Chair Scope and Standards Work Group, Academy of Nutrition and Dietetics Mari Mazon, MS, RD is Co-chair of the GMDI Technology Committee Jenny Thies, MS, LGC, is a member of the National Society of Genetic Counselors and the Metabolic/Lysosomal Storage Disease SIG.  Involved in the Rapid Inpatient Genomic Testing (RIGhT) study at Seattle Children’s Hospital 14

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