Scientific Advisory Board
Shaping The Future Of CHAMP1 Research
Scientific Advisory Board
Shaping The Future
Of CHAMP1 Research
Dr. Stefano Berto, Ph.D.
Chair of the Scientific Advisory Board
Dr. Stefano Berto, Chair of the CHAMP1 Research Foundation SAB is an expert in the field of neuroscience and genetics, with a passion for understanding how our brains develop and function.
He leads the Berto Lab at the Medical University of South Carolina (MUSC), where his team studies the genetic and molecular causes of brain disorders, including neurodevelopmental conditions like CHAMP1.
Dr. Berto’s work focuses on identifying the specific genes and biological pathways that play a role in these disorders. His lab uses cutting-edge techniques, such as stem cells, organoids and advanced genetic analysis tools, to study how brain cells grow, mature, and communicate with each other. This research not only sheds light on how our brains work but also opens doors to potential new treatments for brain-related conditions.
In addition to running his lab, Dr. Berto oversees a team of experts in the Bioinformatics Core at MUSC, where they analyze complex genetic data to better understand diseases like cancer and other conditions. He earned his Ph.D. from Leipzig University in 2016 and has been dedicated to advancing our knowledge of the brain ever since.
Dr. Berto’s deep expertise and innovative research approach make him an invaluable leader as the new chair of the CHAMP1 Research Foundation’s Scientific Advisory Board. His guidance will help drive the foundation’s mission to improve the lives of those affected by CHAMP1-related disorders.
Dr. Stefano Berto, Ph.D.
Chair of the Scientific Advisory Board
Dr. Stefano Berto, Chair of the CHAMP1 Research Foundation SAB is an expert in the field of neuroscience and genetics, with a passion for understanding how our brains develop and function.
He leads the Berto Lab at the Medical University of South Carolina (MUSC), where his team studies the genetic and molecular causes of brain disorders, including neurodevelopmental conditions like CHAMP1.
Dr. Berto’s work focuses on identifying the specific genes and biological pathways that play a role in these disorders. His lab uses cutting-edge techniques, such as stem cells, organoids and advanced genetic analysis tools, to study how brain cells grow, mature, and communicate with each other. This research not only sheds light on how our brains work but also opens doors to potential new treatments for brain-related conditions.
In addition to running his lab, Dr. Berto oversees a team of experts in the Bioinformatics Core at MUSC, where they analyze complex genetic data to better understand diseases like cancer and other conditions. He earned his Ph.D. from Leipzig University in 2016 and has been dedicated to advancing our knowledge of the brain ever since.
Dr. Berto’s deep expertise and innovative research approach make him an invaluable leader as the new chair of the CHAMP1 Research Foundation’s Scientific Advisory Board. His guidance will help drive the foundation’s mission to improve the lives of those affected by CHAMP1-related disorders.
Dr. Wendy Chung, M.D., Ph.D.
Wendy Chung, M.D., Ph.D. is a clinical and molecular geneticist and the Kennedy Family Professor of Pediatrics and Medicine. She received her B.A. in biochemistry and economics from Cornell University, her M.D. from Cornell University Medical College, and her Ph.D. from The Rockefeller University in genetics. Dr. Chung directs NIH funded research programs in human genetics of autism, neurodevelopmental disorders, birth defects, pulmonary hypertension, cardiomyopathy, and breast cancer.
A world leader in the diagnosis and treatment of rare diseases, Dr. Chung has identified more than 41 new genes for human diseases. She is experienced in both the molecular and clinical characterization of the disorders associated with these gene mutations, as well as the integration of these discoveries into clinical practice through the development and implementation of clinical genetic testing in medical care. She leads the Precision Medicine Resource in the Irving Institute at Columbia University and serves on the Council for the National Human Genome Research Institute.
Dr. Chung was the recipient of the American Academy of Pediatrics Young Investigator Award, the Medical Achievement Award from Bonei Olam, and the 2018 Academy Medal for Distinguished Contributions in Biomedical Science from the NY Academy of Medicine. She is renowned for her teaching and mentoring and received Columbia University’s highest teaching award, the Presidential Award for Outstanding Teaching. She is well known for her TED talks with millions of views. Dr. Chung enjoys the challenges of genetics as a rapidly changing field of medicine and strives to facilitate the integration of genetic medicine into all areas of health care in a medically, scientifically, and ethically sound, accessible, and cost-effective manner.
Dr. Wendy Chung, M.D., Ph.D.
Wendy Chung, M.D., Ph.D. is a clinical and molecular geneticist and the Kennedy Family Professor of Pediatrics and Medicine. She received her B.A. in biochemistry and economics from Cornell University, her M.D. from Cornell University Medical College, and her Ph.D. from The Rockefeller University in genetics. Dr. Chung directs NIH funded research programs in human genetics of autism, neurodevelopmental disorders, birth defects, pulmonary hypertension, cardiomyopathy, and breast cancer.
A world leader in the diagnosis and treatment of rare diseases, Dr. Chung has identified more than 41 new genes for human diseases. She is experienced in both the molecular and clinical characterization of the disorders associated with these gene mutations, as well as the integration of these discoveries into clinical practice through the development and implementation of clinical genetic testing in medical care. She leads the Precision Medicine Resource in the Irving Institute at Columbia University and serves on the Council for the National Human Genome Research Institute.
Dr. Chung was the recipient of the American Academy of Pediatrics Young Investigator Award, the Medical Achievement Award from Bonei Olam, and the 2018 Academy Medal for Distinguished Contributions in Biomedical Science from the NY Academy of Medicine. She is renowned for her teaching and mentoring and received Columbia University’s highest teaching award, the Presidential Award for Outstanding Teaching. She is well known for her TED talks with millions of views. Dr. Chung enjoys the challenges of genetics as a rapidly changing field of medicine and strives to facilitate the integration of genetic medicine into all areas of health care in a medically, scientifically, and ethically sound, accessible, and cost-effective manner.
Dr. Kozo Tanaka M.D., Ph.D.
Kozo Tanaka, Professor, Department of Molecular Oncology, Institute of Development, Aging and Cancer, Tohoku University, Japan, characterized and reported CHAMP1 as a protein working for genomic integrity in 2011, and has been studying the molecular and biological functions of CHAMP1.
Dr. Kozo Tanaka M.D., Ph.D.
Kozo Tanaka, Professor, Department of Molecular Oncology, Institute of Development, Aging and Cancer, Tohoku University, Japan, characterized and reported CHAMP1 as a protein working for genomic integrity in 2011, and has been studying the molecular and biological functions of CHAMP1.
Dr. Kristin Grimsrud, D.V.M., Ph.D.
Dr. Kristin Grimsrud is an Assistant Clinical Professor in the Department of Pathology and Laboratory Medicine in the School of Medicine at the University of California Davis (UCD). Additionally, she is the Associate Director of Vivaria and Veterinary Care at the UCD Mouse Biology Program (MBP). Prior to this role she obtained a DVM, PhD in Pharmacology and Toxicology, completed a residency in Laboratory Animal Medicine, a fellowship in clinical pharmacology and a postdoc in cardiothoracic surgery with an emphasis in regenerative medicine in large animal models all at UC Davis.
Her current role at the MBP includes serving on a number of NIH consortium grants including the Knockout Mouse Project, the Mutant Mouse Resource and Research Center and the Mouse Phenotyping Program. She has additional research focus of developing and analyzing precision animal models based on human patient variants, with a specific interest in the CHAMP1 gene. Her personal research interests focuses on characterizing individual variation in drug pharmacokinetics in special populations, specifically burn and pediatric
patients. She has a currently funded K01 and Shriner’s Hospital for Children grant to investigate the impact of pharmacogenetics on opioid metabolism and efficacy and developing a precision medicine rat model to further study opioids and pain.
Dr. Kristin Grimsrud, D.V.M., Ph.D.
Dr. Kristin Grimsrud is an Assistant Clinical Professor in the Department of Pathology and Laboratory Medicine in the School of Medicine at the University of California Davis (UCD). Additionally, she is the Associate Director of Vivaria and Veterinary Care at the UCD Mouse Biology Program (MBP). Prior to this role she obtained a DVM, PhD in Pharmacology and Toxicology, completed a residency in Laboratory Animal Medicine, a fellowship in clinical pharmacology and a postdoc in cardiothoracic surgery with an emphasis in regenerative medicine in large animal models all at UC Davis.
Her current role at the MBP includes serving on a number of NIH consortium grants including the Knockout Mouse Project, the Mutant Mouse Resource and Research Center and the Mouse Phenotyping Program. She has additional research focus of developing and analyzing precision animal models based on human patient variants, with a specific interest in the CHAMP1 gene. Her personal research interests focuses on characterizing individual variation in drug pharmacokinetics in special populations, specifically burn and pediatric
patients. She has a currently funded K01 and Shriner’s Hospital for Children grant to investigate the impact of pharmacogenetics on opioid metabolism and efficacy and developing a precision medicine rat model to further study opioids and pain.
Dr. Suma Shankar M.D., Ph.D.
Dr. Shankar serves as the director of the precision genomic program and holds the Children’s Miracle Network Endowed Chair in Pediatric Genetics at the MIND Institute. She is a physician-scientist, board-certified in medical genetics and is a PhD molecular biologist from University of Iowa.
She brings her combined expertise with a vision for the UC Davis Precision Genomics program to provide personalized health care and facilitate precision medicine practice.
She has initiated using state-of-the-art clinical whole genome sequencing and targeted precision modeling to determine the underlying genetic etiology in patients with complex medical conditions.
She has collaborated with Mutant Mouse Resource and Research Center (MMRRC) and initiated the knockin CHAMP1 mouse model that has already yielded promising results and providing insight to patient care.
She brings her expertise in gene discovery, phenotyping and translational research to individuals with a wide range of clinical manifestations and runs a dedicated clinic focused on individuals with inherited eye disorders, autism spectrum and neurodevelopmental disorders.
Dr. Suma Shankar M.D., Ph.D.
Dr. Shankar serves as the director of the precision genomic program and holds the Children’s Miracle Network Endowed Chair in Pediatric Genetics at the MIND Institute. She is a physician-scientist, board-certified in medical genetics and is a PhD molecular biologist from University of Iowa.
She brings her combined expertise with a vision for the UC Davis Precision Genomics program to provide personalized health care and facilitate precision medicine practice.
She has initiated using state-of-the-art clinical whole genome sequencing and targeted precision modeling to determine the underlying genetic etiology in patients with complex medical conditions.
She has collaborated with Mutant Mouse Resource and Research Center (MMRRC) and initiated the knockin CHAMP1 mouse model that has already yielded promising results and providing insight to patient care.
She brings her expertise in gene discovery, phenotyping and translational research to individuals with a wide range of clinical manifestations and runs a dedicated clinic focused on individuals with inherited eye disorders, autism spectrum and neurodevelopmental disorders.
Dr. Matthew Might M.D., Ph.D.
Dr. Matthew Might has been the Director of the Hugh Kaul Precision Medicine Institute at the University of Alabama at Birmingham (UAB) since 2017. At UAB, Dr. Might is the Hugh Kaul Endowed Chair of Personalized Medicine, a Professor of Internal Medicine and a Professor of Computer Science.
From 2016 to 2018, Dr. Might was a Strategist in the Executive Office of the President in The White House.
In 2015, Dr. Might joined the faculty of the Department of Biomedical Informatics at the Harvard Medical School, first as Visiting Professor and since 2017 as Senior Lecturer.
Dr. Might is co-founder and Chief Scientific Officer of NGLY1.org, and he was a co-founder and Scientific Advisor to Pairnomix. Q State Biosciences acquired Pairnomix in October 2018 and Dr. Might remains a Scientific Advisor and Board Member.
Dr. Matthew Might M.D., Ph.D.
Dr. Matthew Might has been the Director of the Hugh Kaul Precision Medicine Institute at the University of Alabama at Birmingham (UAB) since 2017. At UAB, Dr. Might is the Hugh Kaul Endowed Chair of Personalized Medicine, a Professor of Internal Medicine and a Professor of Computer Science.
From 2016 to 2018, Dr. Might was a Strategist in the Executive Office of the President in The White House.
In 2015, Dr. Might joined the faculty of the Department of Biomedical Informatics at the Harvard Medical School, first as Visiting Professor and since 2017 as Senior Lecturer.
Dr. Might is co-founder and Chief Scientific Officer of NGLY1.org, and he was a co-founder and Scientific Advisor to Pairnomix. Q State Biosciences acquired Pairnomix in October 2018 and Dr. Might remains a Scientific Advisor and Board Member.
Dr. Ashley Winslow M.D., Ph.D.
Ashley Winslow is President and Chief Scientific Officer of Odylia Therapeutics, a nonprofit biotech focused on developing gene therapies for rare diseases.
Odylia develops therapeutics in collaboration with patient groups and a strategic network of CRO and academic partners, with the aim of de-risking products for investment and late-stage development by commercial partners.
Ashley received her PhD in Medical Genetics from the University of Cambridge and completed her postdoctoral work at Massachusetts General Hospital and Harvard Medical School. Before joining Odylia, Ashley worked in the Precision Medicine and Human Genetics and Computational Biomedicine group at Pfizer and the Orphan Disease Center at the University of Pennsylvania.
She has experience overseeing drug development from target discovery to early phase clinical programs and brings to Odylia more than 15 years of drug development experience in the academic, industry, and non-profit sectors. Ashley also serves on the International Angelman Syndrome Research Council (INSYNC-AS).
Dr. Ashley Winslow M.D., Ph.D.
Ashley Winslow is President and Chief Scientific Officer of Odylia Therapeutics, a nonprofit biotech focused on developing gene therapies for rare diseases.
Odylia develops therapeutics in collaboration with patient groups and a strategic network of CRO and academic partners, with the aim of de-risking products for investment and late-stage development by commercial partners.
Ashley received her PhD in Medical Genetics from the University of Cambridge and completed her postdoctoral work at Massachusetts General Hospital and Harvard Medical School. Before joining Odylia, Ashley worked in the Precision Medicine and Human Genetics and Computational Biomedicine group at Pfizer and the Orphan Disease Center at the University of Pennsylvania.
She has experience overseeing drug development from target discovery to early phase clinical programs and brings to Odylia more than 15 years of drug development experience in the academic, industry, and non-profit sectors. Ashley also serves on the International Angelman Syndrome Research Council (INSYNC-AS).
Tess Levy C.G.C.
Tess Levy is an Assistant Professor of Psychiatry and Certified Genetic Counselor at the Seaver Autism Center for Research and Treatment at the Icahn School of Medicine at Mount Sinai.
She received her B.S in neuroscience and psychology, and her MSc in Genetic Counselling from McGill University.
Tess leads studies in rare genetic disorders associated with neurodevelopment, including Phelan-McDermid syndrome, CHAMP1 disorder, and ADNP, FOXP1, and DDX3X syndromes.
Her group has published the first prospective phenotyping study in CHAMP1 disorder as well as the first clinical genotype-phenotype study.
Tess Levy C.G.C.
Tess Levy is an Assistant Professor of Psychiatry and Certified Genetic Counselor at the Seaver Autism Center for Research and Treatment at the Icahn School of Medicine at Mount Sinai.
She received her B.S in neuroscience and psychology, and her MSc in Genetic Counselling from McGill University.
Tess leads studies in rare genetic disorders associated with neurodevelopment, including Phelan-McDermid syndrome, CHAMP1 disorder, and ADNP, FOXP1, and DDX3X syndromes.
Her group has published the first prospective phenotyping study in CHAMP1 disorder as well as the first clinical genotype-phenotype study.
Dr. Helen Chen Ph.D.
Dr. Chen is a senior scientist in Dr. Heather Mefford’s research group at St. Jude Children’s Research Hospital.
Dr. Chen’s research is focused on investigating rare, pediatric neurodevelopmental disorders and testing novel precision therapies.
Dr. Chen is a cell biologist with 13 years of research experience. Specializing in stem cells, neurobiology, and translational precision therapy.
She has extensive experience in disease modelling, assay development, high-throughput screens, stem cell and organoid cultures, and fluorescence microscopy.
Dr. Helen Chen Ph.D.
