Jamas LaFreniere – Founder and President, and Sophie’s Dad
Jamas started Sophie’s Hope Foundation with his wife Margot within months of their youngest daughter Sophie being diagnosed with GSD1b. The foundation’s primary goal is to raise awareness and money to fund research for GSD1b, with a mission to develop a treatment and eventually a cure. Jamas quickly realized that it was critical that the GSD1b community be organized and efficient, thus working to create CureGSd1b as a global GSD1b Patient Advocacy Organization. Jamas is a graduate of Babson College with a BA in Business Management and Entrepreneurship and has spent his entire professional career in technology sales. Jamas’ passion to cure his daughter is the driving force behind Sophie’s Hope Foundation and now CureGSD1b, as well as making him a powerful voice in the rare disease community. Jamas lives with his amazing wife and two beautiful daughters in Massachusetts.
Rabin Pournazarian – Vice President, Jonah’s Dad
Rabin and his wife Lora have been fierce supporters and advocates for GSD1b after their son Jonah was diagnosed in 2006. Over the years they have been a leading fundraiser for GSD1b, which has led to better treatment and major advances in research, specifically in gene therapy. Rabin and his wife Lora have also recently started their own 501c3 called Jonah’s GSD1b Research Foundation, to continue raising money for research. Rabin is a founding member of CureGSD1b with Jamas. The Pournazarian’s reside in sunny California with their 3 children.
Blair Stone-Schneider – Director of Patient Advocacy and Outreach, Sylvi’s Mom
Blair has been advocating for GSD awareness since their daughter was diagnosed in 2013. Over the years, Blair has become an advocate for GSD1b, rare disease and the undiagnosed. She brings communication and marketing skills to the board, along with a passion for networking throughout rare disease communities worldwide. A graduate of the University of Montana, she spent years as a Senior Consultant to the United States Environmental Protection Agency, with experience in non-profits in both the environmental and health realms. Blair’s mission is to help improve the lives of those with GSD1b, bringing better treatment options to patients as we work towards a cure. At Sophie’s Hope Foundation and CureGSD1b, Blair is responsible for engaging with patient populations across platforms, creating educational and outreach materials, coordinating with researchers and practitioners on issues important to patients, managing support groups and the published literature database, and helping grow both organizations. The Stone-Schneider family resides in Helsinki, Finland with their two daughters and two fur babies.
Margot LaFreniere – Board Member, Sophie’s Mom
Margot was instrumental in helping and pushing her husband to start the Sophie’s Hope Foundation and to create a patient advocacy organization for GSD1b. She was even more instrumental in pushing doctors for Sophie’s diagnosis and has been her biggest advocate from day one. Margot graduated from UMass Amherst and is a Registered Nurse at Dana Farber Cancer Institute in Boston, MA. Margot got into nursing to help people and is a fierce advocate for her patients. Her education and career in nursing makes her a huge boost for our organization.
Stephanie Konieczka – Board Member, Jamie’s Mom
Stephanie and her husband Mark have been supporting GSD1b research and advocating for their daughter Jamie since her diagnosis in 2007 when she was 2 months old. Stephanie is a graduate of University of Iowa and holds a BA in Communications. Early on in her career she worked in marketing, but after Jamie’s diagnosis decided to stay home, and pause her career to provide the best care possible for her daughter, as they navigated the challenges associated with GSD1b. The Konieczka’s reside just outside of Chicago in Hinsdale, IL with their two amazing children and their dog Harley.
Cindy Delano Chen – Board Member, Dylan’s Mom
Cindy and her husband Joe have been long-standing supporters of GSD1b research and have been advocating for Dylan and others with GSD1b since she was diagnosed in 2011. Cindy is currently a co-founder and partner at Invictus Global Management, an investment firm based in Austin, Texas. The Delano’s have also been instrumental in helping fund important studies related to gene therapy for GSD1b. Cindy’s mission is to make a difference in the lives of people like her amazing daughter Dylan, by supporting research and medical advances, so that people born with GSD 1b can benefit from early detection, treatment, and ultimately a cure. The Delano family resides just outside of Austin in Driftwood, Texas.
Enrique Landelino Contreras Pulido “Lande” – Board Member, European Liaison, Nina’s Dad
Lande and his wife Marta have been advocating and raising money for GSD1b ever since their wonderful little girl, Nina, was diagnosed in 2018. As a Patients’ Advocate and a volunteer, he is a member of the European Reference Network for Hereditary Metabolic Disorders, GSD1b Coordinator for the Spanish Association of GSD Patients, and Coordinator of several initiatives to raise awareness and support research for GSD1b through their platform www.ninalaguerrera.org. At work, Lande leads humanitarian operations together with multi-disciplinary and multi-cultural teams in highly complex contexts to protect and assist the people affected by armed conflict and other situations of violence. He has worked in countries such as Afghanistan, Yemen, Somalia, Colombia, Venezuela, South Sudan and Myanmar, among others, mostly with the International Committee of the Red Cross. He is a Graduate of the University of Granada in Law and Political Sciences and he holds an MBA. Lande, Marta, and Nina currently call Italy home and keep a strong connection to Spain since they have family and friends there as well.
Gayle Temkin – Board Member, Alyssa’s Mom
Gayle Temkin has been the leading voice and advocate for GSD since her daughter Alyssa was diagnosed with GSD1a in 2006. Gayle and her husband Steve were the driving force behind the GSD clinic and gene therapy research lab moving to Connecticut. Although her daughter has Type 1a she is passionate about creating better care and ultimately a cure for all GSD’s. Gayle provides our board with incredible experience in fundraising and advocacy. The organization she founded; The Global Center for Glycogen Storage Disease is an incredibly important partner to CureGSD1b. We have a shared vision of collaboration and cooperation and creating a better world for patients with GSD. Gayle has also helped countless GSD families seek proper diagnosis and care through her organization, Alyssa’s Angel Fund. The Temkin’s reside in Connecticut with their two amazing daughters.
Michael Centrella – Board Member, Ellie’s Dad
Mike and Christy Centrella have been supporting GSD1b research and advocating for their daughter Ellie since her diagnosis in 2003 when she was 2 years old. Over the years they have been leading fundraisers for GSD1b with the goal of finding better treatments and a cure for GSD1b. They have done this work through their own 501c3, called Efforts for Ellie. Ellie, now 21 years old, is successfully pursuing her dream in the cosmetology field. The Centrella’s are originally from Philadelphia and now reside outside Annapolis, MD.
Dr Priya Kishnani – Medical and Scientific Advisor
Dr Kishnani brings a wealth of knowledge and experience in the world of Glycogen Storage Disease and translating science and research into therapies for rare disease. She is a physician and researcher at Duke where she holds multiple positions, including Chief of Medical Genetics, Professor of Pediatrics, Professor in the Dept of Molecular Genetics and Microbiology, and is a Member in the Duke Clinical research Institute. Dr Kishnani’s experience in treating patients, developing research programs, and running clinical trials will be incredibly beneficial to the GSd1b community.
Dr. Terry Derks – Medical and Scientific Advisor
Terry Derks has been certified as consultant in pediatric metabolic diseases and he is appointed as associate professor at the University Medical Center Groningen, University of Groningen, the Netherlands. Since his PhD thesis defense in 2007 (title: “MCAD deficiency: clinical and laboratory studies”), he developed a special interest, both clinically and scientifically, in inherited disorders of glycogen metabolism (i.e. hepatic glycogen storage diseases) and fatty acid oxidation disorders. Dr. Derks is a trusted voice and advocate for GSD patients and their families.
Dr. Sarah Grunert – Medical and Scientific Advisor
Dr Grunert is a Senior Physician and Head of Clinical Metabolism, Metabolic Medicine (EAP)
at the Clinic for General Pediatric and Adolescent Medicine at University Hospital Freiburg in Germany. She holds a medical degree from the Albert-Ludwigs-Universität Freiburg, where she completed her fellowship in Pediatrics. In 2011, she performed a postdoctoral research fellowship at the University Children’s Hospital Zürich, Switzerland. Her main clinical and research interests are hepatic glycogen storage diseases, fatty acid oxidation defects and disorders of ketone body metabolism. Dr Grunert has played a key role and continues to be a great advocate in work related to drug repurposing of Empagliflozin to be used to treat neutropenia in GSD1b.
Dr. Nicola Brunetti-Pierri – Medical and Scientific Advisor
Dr Brunetti-Pierri is an Associate Investigator at the Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy and Professor of Medical Genetics at ‘Federico II’ University, Naples, Italy. He graduated in Medicine from Federico II University of Naples, Italy. After his residency in Pediatrics at Federico II University of Naples, he moved to Baylor College of Medicine, Houston, USA for a post-doctoral research fellowship and clinical training in medical genetics and biochemical genetics. He was Assistant Professor in the Department of Molecular and Human Genetics at Baylor College of Medicine from 2006 to 2010 and then moved back to Italy.
As a pediatrician and geneticist, he studies genetic diseases and inborn errors of metabolism and his research focuses at developing novel therapies for these disorders. His research has been funded by the National Institute of Health and European Research Council. His research activity has been recognized by awards of the American and European societies of gene and cell therapy (ASGCT and ESGCT). Dr. Brunetti-Pierri is currently working on mRNA replacement therapy for GSD1b, and on the development of a new GSD1b mouse model.
Dr. Walla Al-Hertani – Medical and Scientific Advisor
Dr. Al-Hertani is a Clinical Geneticist and a Medical Biochemical Geneticist with expertise and interest in inborn errors of metabolism (IEMs) and targeted therapeutics for these IEMs Dr. Al-Hertani is currently an Attending in Genetics and Metabolism at the Boston Children’s Hospital and is the Director of the Boston Children’s Hospital Lysosomal Storage disease (BoLD) program. Most importantly to us Dr. Al-Hertani has agreed to be an advisor to Sophie’s Hope Foundation and will help provide us with guidance around clinical care and research for GSD1b.
Maria Veiga-da-Cunha – Scientific Advisor
Maria is a researcher at the de Duve Institute in Brussels, Belgium where her work is focused on the elucidation of inborn errors of metabolism, i.e., diseases due to a genetic defect making that an enzyme of intermediary metabolism is deficient. One of goals is to identify the gene encoding enzymes for which this identity is unknown. Another goal is to identify new enzymes, most particularly metabolite repair enzymes. Of particular importance to GSD1b, Maria has been a part of the team that discovered an SLGT2 Inhibitor (empagliflozin) as a treatment for neutropenia in GSD1b patients. This work has spanned several years, and she continues to dedicate time and effort to continuing this effort. Maria is a terrific resource for the GSD1b team and is always available to answer questions and offer her guidance.
Joseph Barberio – Chief Scientific Advisor
Joe was first introduced to GSD1b through his best friend, Jamas LaFreniere, after his daughter Sophie was diagnosed in 2019. Joe has been with us from day one as we have navigated conversations with doctors, scientists, and drug developers. Joe is a graduate of Connecticut College where he graduated cum laude and earned his BA in Biochemistry, Cellular and Molecular Biology. Currently, Joe is the Director of mRNA Process Development at Strand Therapeutics in Cambridge, MA. Over his 15 + year career in the biotech industry Joe has also held strategic positions at Moderna, Percivia, and Bluebird Bio among others. Joe’s understanding of science and specifically how companies bring drugs to market for rare diseases will be an invaluable part of our foundation’s mission. Joe will be relied on to bridge the gap between research and drug development and help guide us into making proper investments in research projects. His network in the biotech space will be critical as we navigate the difficulties of trying to cure a rare disease. Most importantly Joe has a passion for helping people through science and specifically finding a cure for Sophie and others with GSD1b.
Jennifer Helfer, PhD– Scientific Advisor, Patient Advocacy Advisor
Jen brings a unique perspective to the CureGSD1b Advisory Board that will be critical as we navigate future treatments and the ability to commercialize them for the GSD1b community. Jen is passionate about meaningfully engaging patient communities to improve therapeutic development and the delivery of healthcare. She does this by developing a mutual understanding between stakeholders and driving collaborations around shared goals. Jen has a strong background in the pharmaceutical industry, patient advocacy non-profit, and bench research. Currently she is senior director of patient advocacy and engagement at Encoded Therapeutics, a gene regulation therapy biotech company focused on pediatric CNS diseases. Prior to joining Encoded, she was the senior director of client services at VOZ Advisors where she worked with various pharmaceutical companies on their patient focused activities. Preceding VOZ, Jen served as director and global lead of patient advocacy at bluebird bio, a biotech company developing gene therapies for severe genetic diseases and cancers. Before bluebird bio, Jen served as associate director of scientific operations at the National Brain Tumor Society, the largest nonprofit organization dedicated to the brain tumor community in the United States. Prior to finding her passion in advocacy, Jen engaged in basic research at Boston University Medical Center as a postdoctoral fellow. Jen received a BA in Psychology from the University of North Carolina Wilmington, a MA in Behavioral Neuroscience from the University of Delaware, and a PhD in Biology, Neuroscience from the University of Victoria.
Dr. David Weinstein – Medical and Scientific Advisor
Dr. Weinstein is a Harvard-trained pediatric endocrinologist with over twenty-five years’ experience with glycogen storage disease. Dr. Weinstein did a residency, chief residency and fellowship in pediatric endocrinology at Boston Children’s Hospital. He holds a master’s in Clinical Investigation from Harvard and MIT and became Director of the Glycogen Storage Disease Program at Boston Children’s. In 2005, Dr. Weinstein moved to the University of Florida where he directed the GSD Program and became a tenured professor. In 2017, he moved to the University of Connecticut where his team launched the world’s first gene therapy trial for glycogen storage disease. He left the academic world in 2020 to serve as the medical lead for the GM1 gangliosidosis and metachromatic leukodystrophy gene therapy trials at Passage Bio. In 2023, returned to the glycogen storage disease world where he is working as a consultant striving to bring clinical trials to patients with GSD Ib.
Dr. David Rodriguez-Buritica – Medical and Scientific Advisor
Dr. Rodriguez-Buritica is a pediatric endocrinologist and medical geneticist at the University of Texas Health Houston, associate professor, and the head of the Glycogen Storage Disease Clinic at the University of Texas McGovern School of Medicine. He is dual board-certified in clinical genetics and genomics and pediatric endocrinology. Dr. Rodriguez-Buritica attended medical school at National University of Colombia and completed residency in General Pediatrics and fellowships in pediatric endocrinology and clinical genetics. Dr. Rodriguez-Buritica currently oversees the care of the most GSD1b patients in the United States and brings significant clinical experience in managing the disease in adult and pediatric populations.