Elaina Jurecki, MS, RD    Login to edit this profile

Roles Metabolic Dietitian Research Dietitian Primary Job Title Orphan Pharmaceutical Consultant, Medical Science Liaison NPKUA, Clinical Consultant PHEFREE Consortium Centers & Contact Information

Biography Elaina Jurecki, MS,RD has over 35 years of experience in careers focused on the fields of biochemistry, nutrition science and genetics, and is currently working as a consultant for pharmaceutical and non-profit organizations for metabolic genetic disorders. Her research has been focused on improving the lives of those with rare metabolic diseases by creating customized nutritional programs and patient reported outcome measures based on the medical needs of the patient. She previously worked as the Executive Director of Scientific Communications in Global Medical Affairs for the past 15 years at BioMarin Pharmaceutical Inc., responsible for publication strategy, scientific messaging, medical information, and management of congress activities, and assisted in the development of clinical research protocols and patient and health care provider educational efforts. Prior to that, she served as the Regional Metabolic Coordinator for the Northern California Kaiser Medical Centers for approximately twenty years, overseeing the care of individuals with inborn errors of metabolism, including phenylketonuria (PKU). Ms. Jurecki received her undergraduate degree in Biochemistry at the University of Pennsylvania in Philadelphia, PA and her MS in Nutritional Science from Michigan State University in East Lansing, Michigan. She did her dietetic internship at the University of California San Francisco Medical Center. More recently she has been working as a Clinical Consultant for the PHEFREE Consortium, Oregon Health Sciences Medical Center, focused on conducting a natural history study on PKU with responsibilities including review of clinical research protocols, determination of clinical endpoints, analysis, evaluation and interpretation of results, and coordination and presentation of findings at scientific meetings. In addition, she is the Medical Scientific Liaison to the National PKU Alliance Patient-Centered Research Operations in New York and has served on the Medical Advisory Board for the patient organizations, Organic Acidemia Association and Propionic Acidemia Association. Ms. Jurecki has coauthored many articles in journals such as the Journal for Inherited Metabolic Disease, Molecular Genetics and Metabolism, Journal of Pediatrics, American Dietetic Association Journal, and the American Journal of Clinical Nutrition, as well as has been asked to be a reviewer of manuscripts submitted to these journals. She has written a chapter on nutritional management for inborn errors of metabolism for a college text book published by Wadsworth Thompson Learning used by the Nutrition Department at San Jose State University. Ms. Jurecki has served as a reviewer for the latest edition of the ADA Management Guidelines manual. She is a member of various professional organizations including the American Dietetic Association, Pediatric Nutrition Practice Group, Society of Inherited Metabolic Disorders, Drug Information Association, International Society for Medical Publication Professionals, and a founding member of the Genetic Metabolic Dietitians International. She is the co-chair for the organic academia nutrition guidelines development committee, a project funded by the Southeastern Newborn Screening and Genetics Collaborative. She has given numerous presentations at scientific meetings on various topics related to nutritional management of inborn errors of metabolism, and has collaborated with colleagues working in the field on research activities. Ms. Jurecki also regularly gives presentations for her company at advisory board meetings, patient educational events, and employee training sessions. Areas of Expertise Pediatric Dietetics, Inborn Errors of Metabolism with expertise in Organic Acidemias, Medical Communications for publishing and writing in the areas of metabolic genetics disorders and Mucopolysaccharidosis  Education MS in Nutritional Science at Michigan State University, East Lansing, MI, BS in Biochemistry at University of Pennsylvania, Philadelphia, PA Selected Publications 2021 Quinn J, Georgiadis A, Lewis HB, Jurecki E. Measuring burden of illness in PKU: development of the PKU Symptom Severity and Impacts Scale as a robust patient reported outcome. Adv Ther Feb;39(2):971-991. https://doi.org/10.1007/s12325-021-01986-2  2021 Bilder DA, Arnold GL, Dimmock D, Grant ML, Janzen D, Longo N, Nguyen-Driver M, Jurecki E, Merilainen M, Amato G, Waisbren S. Improved attention linked to sustained phenylalanine reduction in adults with early-treated phenylketonuria. Amer J of Med Gen https://doi:10.1002/ajmg.a.62574 2019 Jurecki E, Ueda K, Frazier D, Rohr F, Thompson A, Hussa C, Obernolte L, Reineking B, Roberts AM, Yannicelli S, Osara Y, Stembridge A, Splett P, Singh RH. Nutrition management guideline for propionic acidemia: An evidence- and consensus-based approach. Mol Genet Metab 126 (2019) 341-354. https://doi.org/10.1016/j.ymgme.2019.02.007 2017 Jurecki ER, S Cederbaum, J Kopesky, K Perry, F Rohr, A Sanchez-Valle, KS Viau, MY Sheinin, JL Cohen-Pfeffer. Adherence to clinic recommendations among patients with phenylketonuria in the United States. Mol Genet Metab, http://dx.doi.org/10.1016/j.ymgme.2017.01.001 2017 Jurecki ER, A Cunningham, V Birardi, G Gagol, C Acquadro. Development of the US English version of the phenylketonuria – Quality of Life (PKU-QOL) questionnaire. Health and Quality of Life Outcomes, 15:46-51. http://dx.doi.org/10.1016/j.ymgme.2017.01.001 Berry S, Brown C, Cederbaum S, Grant M, Green C, Jurecki E, Koch J, Moseley K, Suter R, vancalcar S. Newborn Screening 50 Years Later: Access Issues Faced by Adults with PKU. Genetics in Medicine; 2013, doi:10.1038/gim.2013.10. Cunningham A, Bausell H, Brown M, Chapman M, DeFouw K, Ernst S, McClure J, McCune H, O’Steen D, Pender A, Skrabal J, Wessel A, Jurecki E, Shediac R, Prasad S, Gillis J, Cederbaum S. Recommendations for the use of sapropterin in PKU. Molecular Genetics and Metabolism; 106 (2012) 269-276. Gordon P, Thomas J, Suter R, Jurecki E. Evolving patient selection and clinical benefit criteria for sapropterin dihydrochloride treatment of PKU patients. Molecular Genetics and Metabolism; 2012, doi:10.1016/j.ymgme.2011.12.023 Nutrition Management Guidelines Activity 2008 - Present