The TANGO2 Research Foundation welcomes you to the virtual TANGO2 Family Research Symposium on November 6th from 9am to 1pm EDT.
The TANGO2 Research Foundation’s mission is to improve the lives of those children and young adults affected by TANGO2 related disease by helping to fund, coordinate and guide scientific research that leads to a better understanding of how TANGO2 mutations affect them.
The goal of this event is to share the latest TANGO2 research information and broaden our research network. Invited speakers have received or applied for grant funding from the Foundation and will cover a variety of topics related to their research efforts.
We welcome researchers, scientists, medical professionals and families directly affected by TANGO2 Disease. Our family community is encouraged to participate in Question and Answer sessions.
This invitation can be shared with others that may have an interest in our unique and rare disease.
There is no cost to register.
Dr. Michael Sacher
Michael Sacher is a Professor in the Biology Department at Concordia University and an Adjunct Professor at McGill University in the Department of Anatomy and Cell Biology. His laboratory focuses on the mechanism of membrane transport between cellular compartments and diseases related to defects in this process, work which began as a research associate at Yale University. He discovered the TRAPP complexes in yeast and identified mammalian-specific TRAPP proteins. Using genetic, biochemical, structural and cell biological approaches, his group showed that they play pivotal roles in membrane transport and have linked mutations in a number of TRAPP genes to human disease. His laboratory recently began characterizing the function of TANGO2 using a variety of model systems, demonstrating a role in both membrane transport and at the mitochondria.
Dr. Felix Distelmaier
Dr. Distelmaier is an assistant professor in the Department of Pediatrics and of Neuropediatrics at Heinrich Heine University Duesseldorf (Germany). He is specialized in neurometabolic diseases and neurogenetics. Dr. Distelmaier is actively involved in cell biological and biochemical research. He mainly focuses on identification and characterization of rare neurometabolic diseases. Moreover, he is working on novel treatment strategies for patients with mitochondrial diseases (especially mitochondrial complex I defects and coenzyme Q10 biosynthesis disorders). He is one of the investigators from Germany who first described the TANGO2 disorder in 2016.
Dr. Lina Ghaloul Gonzalez
Dr. Gonzalez is an assistant professor of pediatrics in the division of Genetics and Medical Genomics at University of Pittsburgh. She received her degree in Medicine from the University of Aleppo School of Medicine in Aleppo, Syria. She is board certified in Internal Medicine, Medical Genetics and Genomics and Medical Biochemical Genetics. Dr. Gonzalez has been awarded a National Institutes of Health (NIH) K08 Mentored Clinical Scientist Research Career Development Award under National Human Genome Research Institute (NHGRI) in 2019 for her grant “Precision Genomic Medicine in The Plain Communities and its Impact on The Plain and General Population”. She also has been funded for one year from the TANGO2 Research Foundation in 2020. Dr. Gonzalez focus is on the genetic disorder in the Plain people (Amish and Mennonites) in Western Pennsylvania to characterize novel genetic disorders or novel mutations. She also has interest in studying the pathophysiology of TANGO2 deficiency.
Dr. Seema Lalani
Dr. Seema Lalani is a professor in the Department of Molecular and Human Genetics at Baylor College of Medicine in Houston, TX. She completed her pediatric residency training at Hershey Medical Center in Pennsylvania. She is board certified in Pediatrics, Clinical Genetics, and Clinical Cytogenetics. She is interested in identifying the genetic basis of cardiovascular and neurodevelopmental disorders in children. Dr. Lalani is one of the investigators at Baylor who first described the TANGO2 disorder in 2016.
Dr. Sam Mackenzie
Dr. Mackenzie is a clinician-scientist focused on gene-based therapies for neurogenetic diseases affecting children. He spends his time taking care of children with neuromuscular conditions and is also actively involved in basic science and translational research in the lab. He is interested in helping understand the underlying mechanisms of TANGO2 disease and he also conducts work on myotonic dystrophy. Dr. Mackenzie has been involved with several projects including the addition of TANGO2 on commercial gene panels, determining the genetic frequency of pathogenic variants in TANGO2 on a population-wide scale, and developing more specific antibodies against the TANGO2 protein.
Dr. Christina Miyake
Dr. Miyake is an Associate Professor in the Departments of Pediatrics at Texas Children’s Hospital and Molecular Physiology and Biophysics at Baylor College of Medicine. She also serves as the Director of the Cardiovascular Genetics Inherited Arrhythmias Clinic. She specializes in the care of pediatric patients and families with inheritable arrhythmia disorders. Dr. Miyake is actively involved in clinical and translational research and is currently funded through the NIH. Her goal is to identify genes that cause arrhythmia disorders and improve the quality of care and outcomes among patients worldwide. She is one of the investigators at Baylor who first described the TANGO2 disorder in 2016.
Pr Pascale de Lonlay
Pr Pascale de Lonlay is a pediatrician and coordinator of reference centers of inherited metabolic diseases in France (network G2M) for children and adults. She is also a coordinator of the unit of metabolic diseases at Necker-Enfants Malades Hospital in Paris, France. Her interest in diseases of the energetic metabolism has allowed her to integrate her clinical experience, notably her observation of the importance of inflammation in the decompensation of her patients, and her skills in molecular biology, biochemistry, genetics, and cell biology.
Dr. Hortense de Calbiac
Dr. Hortense de Calbiac is a postdoctoral researcher at Imagine Institute of Genetic Diseases, collaborator and soon to be full-time postdoctoral fellow of Pr de Lonlay. She completed her PhD in 2019 at Sorbonne University under Dr. Edor Kabashi supervision where she conducted research activities in the field of neurological and neurodegenerative disorders. In this context, she specialized in autophagy and correlated signaling pathways.