KMT2C Foundation has joined the
Global Advocacy Alliance!
KMT2C Foundation has joined the
Global Advocacy Alliance!
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 understands 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 April 2025, the Foundation represents over one hundred diagnosed individuals and their families. Age of diagnosis ranges from sixteen weeks old to seventy-one years old. Those diagnosed are represented by two variants; de novo and VUS KMT2C gene variants. Our families also include multi-generational families where each generation has a KMT2C chromosomal variant. We proudly stand as one community.
The Foundation has established the first domestic natural history study for KMT2C in partnership with Citizen Health. Our international biorepository is generously hosted through Simons Searchlight. The KMT2C Foundation is also an active member of the Global Advocacy Alliance. As of May 2025 we are publicly listed with the National Organization for Rare Disease (NORD) database. Our rare disease report will be available via the NORD website is anticipated in early 2026.
Jordana Koch has over thirteen years of industry experience within 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.
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 is currently a Child Neurology resident at Boston Children’s Hospital. She is interested in better understanding the genetic and epigenetic basis of neurodevelopmental diseases, with a particular focus on defects in chromatin-related genes.
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.
Julie L. Thompson, PhD, BCBA-D, is an Associate Professor of Special Education, Behavioral Learning INterventions in Children (BLINC) Lab Director; Core Faculty Member of the Texas A&M University Institute for Early Childhood Development and Education; and Affiliated Faculty Member of the Center on Disability and Development at Texas A&M University. Julie’s work as a classroom teacher for children with autism spectrum disorder (ASD) gave her insight into the layered complexities of providing adequate education to individuals with ASD in public schools. Julie’s BLINC lab uses social-justice-driven mixed-methods research to specialize in two areas: academic instruction for students with profound autism and/or intellectual disabilities AND preventing and teaching replacement behaviors to students with interfering problem behaviors in the classroom, to support inclusion, communication, independence, and lifelong fulfillment. Julie has been PI on seven externally funded awards totaling $3,864,799 and Co-PI four externally funded awards totaling $30.14 million. Julie has 22 peer-reviewed publications, 58 peer-reviewed presentations, and has chaired or co-chaired 17 doctoral students.
The KMT2C Foundation invites interested KMT2C caregivers and adult patients to apply a position in the 2025 Parent Council. The primary goal of the Parent Council is to be an extension of leadership and to help welcome new families, and introduce our research campaigns hosted through Simons Searchlight and Citizen Health. The Foundation fosters its virtual community with the mindset that no two families are going through the same journey and with the compassion that the road to a diagnosis is often an emotional one. We also believe in driving KMT2C research that will lead to Quality of Life treatment options for our diagnosed loved ones.
If you are interested, please email us your resume and introduce yourself to info@kmt2c.org. Application deadline is May 15, 2025.
Austin, TX
Board President will present a testimony to the House Committee on Public Health during the public hearing on 4/28/25 in favor of establishi...
Austin, TX
College Station, TX
College Station, 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
College Station, TX & Virtual
We welcome you to pre-register and join the KMT2C Foundation as we discuss the latest publications on the KMT2C chromosone with clinical res...
College Station, TX & Virtual
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
Statewide within Texas
Texas will be having a month long celebration in March in honor of Developmental Disabilities Awareness Month.
Those with developmental dis...
Statewide within Texas
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-foundation.
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 our diagnosed loved ones and relevant topics. 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 to understand publications on KMT2C and not looking for comradery at this time, we will leave the proverbial door open. We invite you to contact us should you change your mind. As for data sources, we strongly suggest publications from Dr. Siddhartha Banka. Dr. Banka has pioneered research on the KMT2C chromosome as well as numerous rare diseases, and continues to do so currently.
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.
7901 Research Forest Dr, Suite 400 PMB 5022, The Woodlands, TX 77382, USA
info@kmt2c.org Domestic Phone: (832) 429-6496
Today | Closed |
The KMT2C Foundation is closed during Summer 2025. Closure begins on May 15, 2025. The Foundation re-opens for Fall 2025 on August 15, 2025.
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