Medical & Scientific Advisory Board
Dr. Bregje van Bon, M.D., Ph.D. is a clinical geneticist in Nijmegen, Netherlands at Radboud Medical Center. She combines clinical work in the hospital with teaching medical students and conducting research in the lab. In one of her research projects, the SETBP1 gene was discovered as the cause of a severe congenital malformation syndrome named Schinzel-Giedion Syndrome (SGS). She collected the clinical and molecular details from numerous affected individuals and published her findings.
Several years later a young boy visited her genetic clinic, who had learning difficulties and speech problems. Genetic testing showed a DNA variation (mutation) in the SETBP1 gene. This was a completely different type of mutation compared to those identified with SGS. After this first child, several other individuals worldwide were identified with similar SETBP1 mutations. A novel disorder was born and due to her long standing interest in SETBP1, Bregje began following individuals with SETBP1 disorder.
At home, she lives with her husband and three school-aged boys.
Dr. Bregje van Bon, M.D., Ph.D. is a clinical geneticist in Nijmegen, Netherlands at Radboud Medical Center. She combines clinical work in the hospital with teaching medical students and conducting research in the lab. In one of her research projects, the SETBP1 gene was discovered as the cause of a severe congenital malformation syndrome named Schinzel-Giedion Syndrome (SGS). She collected the clinical and molecular details from numerous affected individuals and published her findings.
Several years later a young boy visited her genetic clinic, who had learning difficulties and speech problems. Genetic testing showed a DNA variation (mutation) in the SETBP1 gene. This was a completely different type of mutation compared to those identified with SGS. After this first child, several other individuals worldwide were identified with similar SETBP1 mutations. A novel disorder was born and due to her long standing interest in SETBP1, Bregje began following individuals with SETBP1 disorder.
At home, she lives with her husband and three school-aged boys.
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 obesity, breast cancer, pulmonary hypertension, autism, and birth defects including congenital diaphragmatic hernia and congenital heart disease. She leads the Precision Medicine Resource in the Irving Institute At Columbia University. She has authored over 350 peer reviewed papers and 50 reviews and chapters in medical texts. She was the recipient of the American Academy of Pediatrics Young Investigator Award, the Medical Achievement Award from Bonei Olam, a career development award from Doris Duke and the NY Academy of Medicine Medal for Distinguished Contributions in Biomedical Science. Dr. Chung is renowned for her teaching and mentoring and received Columbia University’s highest teaching award, the Presidential Award for Outstanding Teaching. 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.
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 obesity, breast cancer, pulmonary hypertension, autism, and birth defects including congenital diaphragmatic hernia and congenital heart disease. She leads the Precision Medicine Resource in the Irving Institute At Columbia University. She has authored over 350 peer reviewed papers and 50 reviews and chapters in medical texts. She was the recipient of the American Academy of Pediatrics Young Investigator Award, the Medical Achievement Award from Bonei Olam, a career development award from Doris Duke and the NY Academy of Medicine Medal for Distinguished Contributions in Biomedical Science. Dr. Chung is renowned for her teaching and mentoring and received Columbia University’s highest teaching award, the Presidential Award for Outstanding Teaching. 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. Siddharth (Sid) Srivastava, M.D., Ph.D. is a pediatric neurologist at Boston Children’s Hospital specializing in neurogenetics. His research involves studying different genetic causes of neurodevelopmental presentations — such as autism, intellectual disability, cerebral palsy, and developmental regression — using the multimodal approach of gene discovery, cognitive/behavioral phenotyping, and biomarker identification. At Boston Children’s Hospital, he provides care to children in a variety of neurodevelopmental and neurogenetics clinics. He received his B.A. degree in biochemistry from Columbia University and his M.D. degree from Johns Hopkins University School of Medicine. He finished a combined residency in pediatrics and neurodevelopmental disabilities at Johns Hopkins Hospital and the Kennedy Krieger Institute. He completed his fellowship in neurogenetics at Boston Children’s Hospital.
Dr. Siddharth (Sid) Srivastava, M.D., Ph.D. is a pediatric neurologist at Boston Children’s Hospital specializing in neurogenetics. His research involves studying different genetic causes of neurodevelopmental presentations — such as autism, intellectual disability, cerebral palsy, and developmental regression — using the multimodal approach of gene discovery, cognitive/behavioral phenotyping, and biomarker identification. At Boston Children’s Hospital, he provides care to children in a variety of neurodevelopmental and neurogenetics clinics. He received his B.A. degree in biochemistry from Columbia University and his M.D. degree from Johns Hopkins University School of Medicine. He finished a combined residency in pediatrics and neurodevelopmental disabilities at Johns Hopkins Hospital and the Kennedy Krieger Institute. He completed his fellowship in neurogenetics at Boston Children’s Hospital.
Dr. Jordan Whitlock, Ph.D., specializes in pediatric rare diseases and is based out of Fort Myers, FL, and Boston, MA. She obtained her doctoral degree in Genetics, Genomics, and Bioinformatics from the University of Alabama at Birmingham. Her expertise lies in generating patient-specific genomic sequencing data and employing computational biology methods to investigate tissue- and cell-type-specific mechanisms that underlie SETBP1-associated diseases and disorders. Her recent work has examined how a patient variant may function in different biological contexts related to SETBP1. Her passion for rare diseases emerged in 2016, and prior to her Ph.D., she served as a program coordinator at the Hugh Kaul Precision Medicine Institute. In this role, she played a key part in a patient-centered research approach aimed at helping individuals achieve their goals in precision medicine. This involved tasks such as identifying potential candidates for drug repurposing and developing research plans for cell lines and animal models. Additionally, she served as the southern counterpart for the joint UAB/Harvard Undiagnosed Diseases Network coordinating center.
Dr. Jordan Whitlock, Ph.D., specializes in pediatric rare diseases and is based out of Fort Myers, FL, and Boston, MA. She obtained her doctoral degree in Genetics, Genomics, and Bioinformatics from the University of Alabama at Birmingham. Her expertise lies in generating patient-specific genomic sequencing data and employing computational biology methods to investigate tissue- and cell-type-specific mechanisms that underlie SETBP1-associated diseases and disorders. Her recent work has examined how a patient variant may function in different biological contexts related to SETBP1. Her passion for rare diseases emerged in 2016, and prior to her Ph.D., she served as a program coordinator at the Hugh Kaul Precision Medicine Institute. In this role, she played a key part in a patient-centered research approach aimed at helping individuals achieve their goals in precision medicine. This involved tasks such as identifying potential candidates for drug repurposing and developing research plans for cell lines and animal models. Additionally, she served as the southern counterpart for the joint UAB/Harvard Undiagnosed Diseases Network coordinating center.
Dr Jessica Duis is a pediatric geneticist and special care pediatrician at Children’s Hospital Colorado. She did her training at Johns Hopkins in Baltimore, MD, where she focused her work on epigenetic disorders. She has built multidisciplinary Centers of Excellence across the United States with a focus on patient care, establishing standards of care, translational research, clinical trial design, and outcome measures. She is an expert of Angelman, Duplication 15q, and Prader-Willi syndromes and has published guidelines on their management. Her research has included investigator-driven clinical trials and translational outcome measure design both in the lab and in the natural environment.
Dr Jessica Duis is a pediatric geneticist and special care pediatrician at Children’s Hospital Colorado. She did her training at Johns Hopkins in Baltimore, MD, where she focused her work on epigenetic disorders. She has built multidisciplinary Centers of Excellence across the United States with a focus on patient care, establishing standards of care, translational research, clinical trial design, and outcome measures. She is an expert of Angelman, Duplication 15q, and Prader-Willi syndromes and has published guidelines on their management. Her research has included investigator-driven clinical trials and translational outcome measure design both in the lab and in the natural environment.
Rocío Acuña Hidalgo, Ph.D. is a medical doctor and human geneticist based in Berlin, Germany. Her expertise lies in combining Next Generation Sequencing (such as exome sequencing) and molecular biology approaches to study mutations and understand how they lead to human disease. Rocío has carried out research focused on the genetics of developmental disorders, which are characterized by congenital malformations and neurodevelopmental alterations. She completed her PhD at Radboud Medical Center, where she studied the molecular effects of SETBP1 mutations in Schinzel-Giedion syndrome using computer modeling and carrying out experiments in cells, including analyzing cell lines derived from patients with Schinzel-Giedion syndrome. She was a postdoctoral fellow at the Max Planck Institute for Molecular Genetics in Berlin, where she worked on novel technologies to improve the diagnosis of patients with genetic disorders. She then co-founded Nostos Genomics, a company developing software to improve the diagnosis of patients with genetic diseases. She currently serves as the Chief Technological Officer at Nostos Genomics.
Rocío Acuña Hidalgo, Ph.D. is a medical doctor and human geneticist based in Berlin, Germany. Her expertise lies in combining Next Generation Sequencing (such as exome sequencing) and molecular biology approaches to study mutations and understand how they lead to human disease. Rocío has carried out research focused on the genetics of developmental disorders, which are characterized by congenital malformations and neurodevelopmental alterations. She completed her PhD at Radboud Medical Center, where she studied the molecular effects of SETBP1 mutations in Schinzel-Giedion syndrome using computer modeling and carrying out experiments in cells, including analyzing cell lines derived from patients with Schinzel-Giedion syndrome. She was a postdoctoral fellow at the Max Planck Institute for Molecular Genetics in Berlin, where she worked on novel technologies to improve the diagnosis of patients with genetic disorders. She then co-founded Nostos Genomics, a company developing software to improve the diagnosis of patients with genetic diseases. She currently serves as the Chief Technological Officer at Nostos Genomics.