The KMT2C Foundation is a patient advocacy group championing clinical research for KMT2C chromosomal abnormalities. The Foundation firmly believes that no two families are going through the same medical journey and understand that the road to a diagnosis is often an emotional one. If you are a research-driven patient, family, or caregiver looking for community of peers, feel free to reach out via "Contact Us" below.
As of October 2025, the Foundation represents over three hundred patients and patient advocates. Age of diagnosis ranges from sixteen weeks old to seventy-one years old. Our families also include multi-generational families where each generation has a KMT2C chromosomal variant.
The Foundation proudly partners with the KMT Gene Family Foundation and KMT2E Foundation. The KMT2C Foundation has established the first natural history study for KMT2C as well as KMT2E in partnership with Citizen Health. Our biorepository and annual medical resurveys are generously hosted through Simons Searchlight, who also publish a quarterly report on KMT2C via Genes We Study. The KMT2C Foundation is an active member the Global Advocacy Alliance, and is listed in the National Organization for Rare Disease (NORD) database.

Jordana Koch has over fourteen years of industry experience within private equity, venture capital, FinTech and bio-pharma operations. Start-up involvement has been from seed stage to fully funded with pharmaceutical backing. Teams have included C-suite members and senior executives from North America, EMEA, LATAM, Switzerland, APAC, and
Jordana Koch has over fourteen years of industry experience within private equity, venture capital, FinTech and bio-pharma operations. Start-up involvement has been from seed stage to fully funded with pharmaceutical backing. Teams have included C-suite members and senior executives from North America, EMEA, LATAM, Switzerland, APAC, and India. Jordana is the founding member of the KMT2C Foundation. She is a long-standing Autism Spectrum Disorder and 2E (Twice Exceptional) advocate. She also serves on the Parent Genetic Family Advisory Council at Texas Children's Hospital.

Matthias Koch is an Assistant Professor for Biology at Texas A&M University, where his lab studies how the clinical important bacterial pathogen Pseudomonas aeruginosa interacts with the physical environment of the host to regulate its pathogenicity.
Matthias found his passion for diseases related research and medical care during a communi
Matthias Koch is an Assistant Professor for Biology at Texas A&M University, where his lab studies how the clinical important bacterial pathogen Pseudomonas aeruginosa interacts with the physical environment of the host to regulate its pathogenicity.
Matthias found his passion for diseases related research and medical care during a community service gap-year after high school at the University Hospital in Freiburg, Germany.
Matthias started his career by exploring the world of astro physics, particle physics, and computer science, which earned him a MSc in Physics. Intrigued by the world of microbes and the molecular processes in the cell, he went on to apply his knowledge about physics to biological systems, for which he received a PhD with summa cum laude in Biophysics at the Department of Microsystem Engineering at his home university. He finally fostered his love for biology and diseases related work during a Postdoc in the Department for Molecular Biology and the Lewis-Sigler Institute for Integrative Genomics at Princeton University, where he made the remarkable discovery that bacteria have a sense of touch similar to humans to regulate their virulence related genes to their mechanical environment in the host.
Matthias has received numerous conference awards, the Wolfgang Genter Early Career Award for his PhD thesis, a National Institute of Health (NIH) Maximizing Investigators’ Research Award (MIRA), and published his work in prestigious journals such as Science, Nature Photonics, Nature Microbiology, the Proceedings of the National Academy of the Sciences of the United States of America (PNAS), and more.

Executive Medical Director, Institute of Human Genetics, Heidelberg University Hospital
Full Professor, Human Genetics, Heidelberg University
Christian is the medical director and department chair of the Institute of Human Genetics at Heidelberg University. He studies the genetic causes of neurodevelopmental and neuropsychiatric disorders.
Executive Medical Director, Institute of Human Genetics, Heidelberg University Hospital
Full Professor, Human Genetics, Heidelberg University
Christian is the medical director and department chair of the Institute of Human Genetics at Heidelberg University. He studies the genetic causes of neurodevelopmental and neuropsychiatric disorders. His work led to the discovery of multiple new disease genes, and three disorders have been named after him: Schaaf-Yang syndrome, Bosch-Boonstra-Schaaf Optic Atrophy syndrome, and Marbach-Schaaf Neurodevelopmental syndrome.
Christian’s groundbreaking work has been recognized with many awards, including the William K. Bowes Award for Medical Genetics by Partners Healthcare and Harvard Medical School and the inaugural Seldin-Smith Award for Pioneering Research by the American Society for Clinical Investigation.
Christian has authored four books, including a major textbook of medical genetics that has been translated into several languages. He is a passionate teacher and has shared his love for human genetics with thousands of students and trainees around the globe.
Most importantly, he is an advocate for individuals with rare disease, serving on the scientific advisory boards of the Foundation of Prader Willi Research, the USP7 Foundation, the NR2F1 Foundation, and the Prader Willi Vereinigung Germany.

Alisa Mo received her M.D., Ph.D. at Johns Hopkins University School of Medicine in Baltimore, Maryland and trained in Child Neurology and Neurogenetics/Behavioral neurology at Boston Children’s Hospital. She is now an Assistant Professor at the Institute for Genomic Medicine at Nationwide Children's Hospital/The Ohio State University. Dr
Alisa Mo received her M.D., Ph.D. at Johns Hopkins University School of Medicine in Baltimore, Maryland and trained in Child Neurology and Neurogenetics/Behavioral neurology at Boston Children’s Hospital. She is now an Assistant Professor at the Institute for Genomic Medicine at Nationwide Children's Hospital/The Ohio State University. Dr. Mo is a physician-scientist who sees patients in autism and neurology clinics and does research on the genetics and mechanisms of neurodevelopmental diseases.

Joshua Shaevitz is Professor of Physics and Biophysics in the Department of Physics and Lewis-Sigler Institute for Integrative Genomics at Princeton University. He did undergraduate work at Columbia University in New York and received his Ph.D. in Physics from Stanford University in 2004. Prior to his appointment at Princeton, he was a Mi
Joshua Shaevitz is Professor of Physics and Biophysics in the Department of Physics and Lewis-Sigler Institute for Integrative Genomics at Princeton University. He did undergraduate work at Columbia University in New York and received his Ph.D. in Physics from Stanford University in 2004. Prior to his appointment at Princeton, he was a Miller Research Fellow at the University of California, Berkeley. Shaevitz's work focuses on precision measurements in a variety of biological systems, focusing on topics related to cell shape in bacteria, active matter and pattern formation in groups of moving cells, and the quantification of animal behavior. He is the recipient of several awards and honors, including a National Science Foundation CAREER Award, an APS Fellowship, and a Presidential Early Career Award for Scientists and Engineers (PECASE), among others. He also serves as co-Director of the Center for the Physics of Biological Function and is the Director of Graduate Studies for the Graduate Program in Biophysics at Princeton University.

Alyssa Tran has extensive clinical research experience with rare diseases through many capacities and roles servicing in the academic medical center area. Her knowledge and experience encompass FDA regulated trials, investigator initiated studies and longitudinal, natural history studies. Currently serving as a Senior Regulatory Affairs
Alyssa Tran has extensive clinical research experience with rare diseases through many capacities and roles servicing in the academic medical center area. Her knowledge and experience encompass FDA regulated trials, investigator initiated studies and longitudinal, natural history studies. Currently serving as a Senior Regulatory Affairs Associate at Baylor College of Medicine (BCM), she leverages her clinical research experience with regulatory affairs and research coordination, logistics and planning of clinical research operations, along with research compliance, community engagement, in addition to on-boarding and mentoring new investigators and research coordinators.
She serves as the research liaison for BCM Molecular and Human Genetics Department and Texas Children’s Hospital Genetics Administration Office. She also has been actively serving on the BCM Institutional Review Board (IRB) as a member and recently joined the University of Houston IRB as an alternate member. Recently, she was appointed as an Academic Partner with the UDN CEC (Undiagnosed Diseases Network Community Engagement Committee) Leadership. Moreover, she currently serves as the Program Manager for NORD COE (National Organization for Rare Disorders Center of Excellence) at Baylor College of Medicine (BCM)/Baylor St. Luke’s Medical Center (BSLMC)/Texas Children’s Hospital (TCH).
Alyssa holds a Bachelor of Science from University of Houston. She has attained certification through Society of Clinical Research Associates (SOCRA). Alyssa has been organizing the TCH Rare Disease Day Event since 2024 in celebration of Rare Disease Day awareness and education initiatives with NORD.
Alyssa is an active member of the Regulatory Affairs Professional Society (RAPS) and contributes as the Chair for the RAPS Houston Local Networking Group.

Matthias Koch is an Assistant Professor for Biology at Texas A&M University, where his lab studies how the clinical important bacterial pathogen Pseudomonas aeruginosa interacts with the physical environment of the host to regulate its pathogenicity.
Matthias found his passion for diseases related research and medical care during a communi
Matthias Koch is an Assistant Professor for Biology at Texas A&M University, where his lab studies how the clinical important bacterial pathogen Pseudomonas aeruginosa interacts with the physical environment of the host to regulate its pathogenicity.
Matthias found his passion for diseases related research and medical care during a community service gap-year after high school at the University Hospital in Freiburg, Germany.
Matthias started his career by exploring the world of astro physics, particle physics, and computer science, which earned him a MSc in Physics. Intrigued by the world of microbes and the molecular processes in the cell, he went on to apply his knowledge about physics to biological systems, for which he received a PhD with summa cum laude in Biophysics at the Department of Microsystem Engineering at his home university. He finally fostered his love for biology and diseases related work during a Postdoc in the Department for Molecular Biology and the Lewis-Sigler Institute for Integrative Genomics at Princeton University, where he made the remarkable discovery that bacteria have a sense of touch similar to humans to regulate their virulence related genes to their mechanical environment in the host.
Matthias has received numerous conference awards, the Wolfgang Genter Early Career Award for his PhD thesis, a National Institute of Health (NIH) Maximizing Investigators’ Research Award (MIRA), and published his work in prestigious journals such as Science, Nature Photonics, Nature Microbiology, the Proceedings of the National Academy of the Sciences of the United States of America (PNAS), and more.

Alisa Mo received her M.D., Ph.D. at Johns Hopkins University School of Medicine in Baltimore, Maryland and trained in Child Neurology and Neurogenetics/Behavioral neurology at Boston Children’s Hospital. She is now an Assistant Professor at the Institute for Genomic Medicine at Nationwide Children's Hospital/The Ohio State University. D
Alisa Mo received her M.D., Ph.D. at Johns Hopkins University School of Medicine in Baltimore, Maryland and trained in Child Neurology and Neurogenetics/Behavioral neurology at Boston Children’s Hospital. She is now an Assistant Professor at the Institute for Genomic Medicine at Nationwide Children's Hospital/The Ohio State University. Dr. Mo is a physician-scientist who sees patients in autism and neurology clinics and does research on the genetics and mechanisms of neurodevelopmental diseases.

Zhaolan (Joe) Zhou is a Professor of Genetics and Neuroscience at the University of Pennsylvania. After receiving a BS degree from Nankai University and a PhD from Harvard University, he completed postdoctoral training at Harvard Medical School. Since joining UPenn, his research program has focused on elucidating the pathophysiology of ne
Zhaolan (Joe) Zhou is a Professor of Genetics and Neuroscience at the University of Pennsylvania. After receiving a BS degree from Nankai University and a PhD from Harvard University, he completed postdoctoral training at Harvard Medical School. Since joining UPenn, his research program has focused on elucidating the pathophysiology of neurodevelopmental disorders with defined genetic causes, including Rett syndrome and CDKL5 deficiency disorder (CDD), as well as complex conditions such as autism spectrum disorder and major depressive disorder influenced by environmental factors. In recent years, his team has developed the first allelic series of mouse models that faithfully recapitulate human mutations associated with Rett syndrome and CDD and engineered genetically modified mice to investigate stress-related neuroepigenetic mechanisms in the brain. By integrating genetic, genomic, physiological, and behavioral approaches, the Zhou Lab has uncovered novel insights into disease mechanisms, identified robust and quantitative biomarkers, and is actively pursuing innovative therapeutic strategies for neurodevelopmental and neuropsychiatric disorders.

Frederic Vigneault, Ph.D., is a molecular biologist with a track record of translating breakthrough science into therapeutic innovation. Prior to co-founding Unravel Bio, he was a Senior Scientist at Harvard’s Wyss Institute, where he contributed to pioneering work in CRISPR gene editing, synthetic biology, and DNA technologies that helpe
Frederic Vigneault, Ph.D., is a molecular biologist with a track record of translating breakthrough science into therapeutic innovation. Prior to co-founding Unravel Bio, he was a Senior Scientist at Harvard’s Wyss Institute, where he contributed to pioneering work in CRISPR gene editing, synthetic biology, and DNA technologies that helped launch multiple biotech startups. Boston Children's Hospital
Divisional Wellness Officer; Associate Director, Fecal Microbiota Transplantation; Attending Physician, Division of Gastroenterology, Hepatology and Nutrition, and
Assistant Professor of Pediatrics, Harvard Medical School

George Chen, Ph.D. Is an assistant project scientist in the laboratory of Daniel Geschwind at UCLA. Over the past five years, he has led efforts to develop CRISPR-based gene activation approaches as precision therapies in cellular models of profound autism. Currently, his research focuses on understanding the role of KMT2C in neurodevel
George Chen, Ph.D. Is an assistant project scientist in the laboratory of Daniel Geschwind at UCLA. Over the past five years, he has led efforts to develop CRISPR-based gene activation approaches as precision therapies in cellular models of profound autism. Currently, his research focuses on understanding the role of KMT2C in neurodevelopment using patient-derived stem cells and brain organoid models.

Boston Children's Hospital
Divisional Wellness Officer; Associate Director, Fecal Microbiota Transplantation; Attending Physician, Division of Gastroenterology, Hepatology and Nutrition, and
Assistant Professor of Pediatrics, Harvard Medical School

Albert Einstein College of Medicine Professor, Department of Genetics
Professor, Department of Obstetrics, Gynecology and Women's Health
Professor, Department of Pediatrics (Pediatric Cardiology)
Sidney L. and Miriam K. Olson Chair in Cardiology
Director, Division of Translational Genetics, Department of Genetics
Faculty Advisor, Genomics Core, Department of Genetics
The cohort participants will be contacted via email in February 2026 for the weekly meetings.
Houston, TX
Abilities Expo brings you life-changing opportunities. It’s products and tech. It’s the chance to play adaptive sports, climb an all-inclus...
Houston, TX
New Orleans, LA
KMT2C Foundation will be attending the American Society of Gene and Cell Therapy's 28th Annual Meeting in New Orleans! We will be learning a...
New Orleans, LA
Houston, TX
This two-day symposium goes beyond institutional research—it’s about pioneering impactful innovations with the potential to improve global ...
Houston, TX
Houston, TX
The National Organization for Rare Disease and the Baylor College of Medicine Department of Molecular and Human Genetics hosted Family Day f...
Houston, TX
College Station, TX
The Foundation invites you to join us at City Hall as we read a joint proclamation with Mayor Pro Tem Smith on developmental disability awar...
College Station, TX
The KMT2C Foundation x Citizen Health Natural History Study Campaign has is fully digital. Participation is done through an online portal, and data can be securely organized and shared. Diagnosed individuals and their caregivers are welcome to create an account via: https://www.citizen.health/partners/kmt2c
Our families are engaged in research and are collectively working towards the goal of treatment options that will lead to Quality of Life treatments for our diagnosed loved ones. If you are looking to talk to one of our families before joining, we welcome you to do so! Just reach out to info@kmt2c.org. As a support group, our families "get out what they put in", so conversation is centric around patient experiences and research. As we are virtual and it takes time to build trust, the Foundation maintains a "no screenshot" policy. If this policy is broken, you will be removed from the virtual community and potentially be prohibited from joining the KMT2C Foundation in any other activity.
If your goal is not inclusive of participating in research, we will leave the proverbial door open. We invite you to contact our campaign partners directly should you change your mind or have inquiries about the repository process. As for data sources, we strongly suggest publications from Dr. Siddharth Banka. Dr. Banka has pioneered research on the KMT2C chromosome as well as numerous rare diseases, and continues to do so currently. Without participation in the research campaigns, we have no internal resources to provide the inquiring patient / patient advocate.
The KMT2C Foundation collaborates with researchers and repositories but does not provide medical advice. Shared experiences are for informational purposes only and are not a substitute for professional medical care. Always consult your healthcare provider regarding medical decisions.
3515 Longmire Drive, STE B PMB 188, College Station, TX 77845
info@kmt2c.org Our family of NGOs: KMT2C Foundation KMT2E Foundation O'Donnell-Luria-Rodan Syndrome KMT Gene Family Foundation
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