About Us
Our mission and leadership
Our Mission
The Tatton Brown Rahman Syndrome Community aims to support all families affected by TBRS and advance research toward interventions.
Our Values
The Tatton Brown Rahman Syndrome Community is committed to developing a supportive, inclusive, and collaborative network of families, clinicians, researchers, and other stakeholders. We serve the patient above all else.
Our Goals
- To create a comforting, inclusive community for diagnosed individuals and their families to connect, support each other, and share information.
- To coordinate and support research on this newly identified, rare syndrome and identify treatments.
- To educate the greater community and raise awareness of TBRS.
- To manage a global patient registry for individuals diagnosed with TBRS.
Staff
TBRS Community Board of Directors
Scientific and Medical Advisory Committee
I am committed to working with families so we better understand TBRS and to ensure the very best care is provided for children and adults with TBRS across the world.
Dr. Kate Tatton Brown
We are committed to understanding the cellular underpinnings of TBRS and relentlessly working towards therapeutics for the disorder.
Dr. Harrison Gabel
When researchers come together and take time to listen to parents and children, we create collaborative medicine – wherein questions most relevant to families can be answered.
Dr. William Gibson
My pledge to families is to pursue every research angle we can to find treatments for TBRS.
Kerry Grens
I am passionate about keeping our patients’ priorities at the heart of all of the work we do.
Jill Kiernan
Jill Montgomery Kiernan is the Executive Director and founder of the TBRS Community. Her daughter, Aevary, was one of the participants in The Childhood Overgrowth Study that first identified TBRS. Having gone many years without knowing what caused Aevary’s delays and challenges, learning of this breakthrough discovery changed everything. Fueled by a mother’s love and the excitement of finally having a “home” in TBRS, Jill formed The TBRS Community with the mission of supporting families affected by TBRS and furthering research into this rare disease. Jill coordinates The TBRS Community Annual Conferences and works to facilitate communication and partnerships with researchers, doctors, educators, and families. She owns her own business providing services to individuals with disabilities and has worked with this population in varying capacities for more than 20 years. Jill lives with her husband Joe, son Aiden, and daughter Aevary in upstate New York. In her free time, she enjoys being with her family, getting out in nature walking, hiking, and kayaking.
Engaging with the TBRS community has changed the way we approach our research. We are driven to contribute fundamental discoveries of molecular mechanisms that underlie TBRS patient symptoms and work with others to accelerate effective medical interventions.
Dr. Laura Lavery
Dr. Laura Lavery is a molecular neuroscientist with interdisciplinary training in biochemistry, molecular biophysics, neuroscience, genetics, and epigenetics. She earned her Bachelor of Science in Biochemistry from the University of Texas at Austin in 2006 and her PhD in Biophysics from the University of California, San Francisco in the lab of Dr. David Agard in 2013. She completed her postdoctoral training in the Department of Molecular and Human Genetics at Baylor College of Medicine under the mentorship of Dr. Huda Zoghbi, and in 2022, she established her independent lab in the Department of Biosciences at Rice University. The Lavery lab studies epigenetic control of gene expression in brain development and function, with special focus DNA methylation-dependent regulatory mechanisms. Research in the labs aims to determine how pathogenic mutations in epigenetic factors give rise to altered neurodevelopment and maladaptive psychological states.
Our lab works on the role of DNMT3A in blood cell development, and how mutations in this gene contribute to the development of acute leukemia.
Dr. Timothy Ley
Our practice has a soft spot for children with special needs and complex health challenges.
Dr. Joseph T. Malak
Partnering with TBRS patients and families is the best way to further understanding of the disorder, medically and scientifically.
Dr. Serge McGraw
Dr. Serge McGraw is an Associate Professor in the Department of Obstetrics and Gynecology at the Université de Montréal (Montréal, Canada). He completed a postdoctoral fellowship at McGill University (Montreal) where he developed an expertise in developmental biology and epigenetics. His principal research interests are focused on the detrimental developmental outcomes caused by epigenetic instabilities arising from alterations in DNA methylation profiles during embryogenesis and brain development. His research aims at understanding how perturbations in the epigenetic program appear following alterations in the machinery controlling DNA methylation, how they impact other epigenetic modifications and how this can lead to neurodevelopmental disorders. By combining TBRS-patient derived in vitro stem cell models, as well as in vivo mouse models, with multi-omics sequencing approaches, his laboratory aims at understanding how dysfunction in the DNMT3A enzyme during early development leads to gene expression errors and how these perturbations impede the establishment of regulatory networks required for lineage specification and commitment during development, ultimately driving the occurrence of neurodevelopmental disorders.
Our partnership with the TBRS community is central to our work – it guides the questions we ask, provides necessary samples and data, and serves as constant motivation to keep working.
Dr. Rachel Rau
Being a part of the nonprofit has been a meaningful part of my life. Giving back to my son’s syndrome and directly contributing to research through funding and providing our children’s blood to further research is empowering. We are determined to find therapeutics to help our children.
Kacee Richter
Kacee Richter is the President and an active member within the TBRS Community since 2018. She also serves a member of the Events, Education and Outreach, Fundraising, and TBRS Cares committees. Kacee and her husband Bobby, who starting dating in college at Texas A&M, have two gorgeous boys, Lucas and Owen. Lucas was diagnosed with TBRS at the age of three, and since then her mission has been to assist in anyway possible to find a cure for him and their new TBRS family. She currently manages the catering department of her parents’ restaurant, Tin Roof BBQ, in Humble, Texas, which has hosted a number of fundraisers for TBRS Community. Before having the opportunity to join the family business, she had a career of 10 years at a major oilfield service company in supply chain and inventory management. Their family enjoys playing outside and traveling.
I pledge to work with patients and their families to get a deeper understanding of the clinical manifestations and natural history of TBRS and to develop guidelines for follow up and surveillance.
Dr. Marwan Shinawi
Dr. Marwan Shinawi is a professor of pediatrics at Washington University School of Medicine. He is Board certified in Clinical Genetics and Medical Biochemical Genetics and serves as the program director of the Combined Pediatrics Genetics Residency and the Medical Biochemical Genetics Fellowship. Dr. Shinawi completed his training in genetics at Baylor College of Medicine in Houston, TX. Dr. Shinawi joined the faculty at Baylor in 2005 and Washington University School of Medicine in 2009. Dr. Shinawi’s special interests are in disease gene discovery and genomic medicine. He contributed to the identification of several genetic syndromes and was involved in the characterization of multiple neurodevelopmental disorders. With his clinical and laboratory research experiences, Dr. Shinawi has been the primary author on many publications. Dr. Shinawi has a key role in establishing pioneering specialty clinics at Washington University including the exome, the cancer predisposition clinics, pharmacogenomics and DeSanto-Shinawi (DESSH) clinics.
I joined the Medical and Scientific Advisory Committee because as a physician and mother of a TBRS person — one of the oldest — I have expertise that few other parents have. Improving the understanding of TBRS is one way I can make my son’s life and experiences more meaningful.
Dr. Vicken Totten
Vicken Totten was born in Connecticut to academic parents. She attended Loyola Stritch School of Medicine, Family Practice Residency in California. As a single mom of 3, she worked in Emergency Rooms. When Emergency Medicine became a specialty, she added EM Boards to FM. Later, was invited to Sweden as their first full time, board-certified emergency physician. In 1990 she was offered a faculty position at The Brooklyn Hospital in NY. While at the Catholic Hospitals of NY, she obtained a Masters in Research Design and Statistics from Ann Arbor, MI. Thereafter, Vicken was Research Director at University Hospitals Case Medical Center in Cleveland OH, until 2014 when she was recruited to be the Institutional Research Director at Kaweah Delta, Visalia CA. When her second son and wife had trouble conceiving, they consulted fertility experts who suggested genomic testing including mother and his older brother. It was then, 2019, when he was 40, that her eldest son had Tatton Brown Rahman Syndrome. Since then,Vicken started reading everything written about TBRS and related subjects, and joined the TBRS Community. She wants to use her son’s life experiences to help others with TBRS to peer into their possible futures.
Our journey might be long, but together, families and researchers can make progress to advance our understanding of the symptoms of TBRS and identify therapeutic avenues.
Dr. Ayala Tovy
Dr. Ayala Tovy is a Principal Scientist lab head at Novartis research Institute (NIBR) and adjunct assistant professor at Baylor College of Medicine. Her extensive research has focused on stem cells, human development, and cancer biology. Recently, her studies have revolved around developmental disorders related to DNA Methyltransferase 3 (DNMT3A), including Tatton Brown Rahman Syndrome (TBRS). Specifically, Dr. Tovy has designed studies enrolling individuals with TBRS to address key questions regarding the role of DNMT3A in regulating hematopoiesis and stem cell growth. Dr. Tovy received her BSc and MSc from the Tel Aviv University in Israel, and her PhD from the Technion Institute of Technology in Israel. She began her postdoctoral research at the Weizmann Institute of Science before transitioning to her current position. She is actively pursuing a career in academic research.
I am delighted to join the Medical and Scientific Advisory Committee of the TBRS Community to continue contributing to the understanding of the natural history of this condition and to improve the follow-up of people with TBRS.
Dr. Irene Valenzuela
Irene Valenzuela is a Medical Genetics doctor working in Hospital Vall d’Hebron, Barcelona, Spain. She studied first biology at the University Pompeu fabra and then a master degree in genetic counseling. She worked two years as a genètic counselor in Hospital vall d’hebron and obtained the EBMG as genètic counsellor. After that she studied medicine at the University Autónoma of Barcelona before training in Paediatrics. Since 2017 she’s been working in clinical genetics in hospital Vall d’Hebron. She has been investigating conditions associated with learning disability since 2017 and has published widely in this area. Since 2019 she has been working to delineate clinical and molecular aspects of TBRS. Some of this work has already been published but work is also ongoing and being undertaken in close collaboration with the TBRS family group. Also part of the scientific committee of the Spanish TBRS Association
We strive to merge the goals of the TBRS community with state of the art scientific and precision medicine strategies to optimize the development of diagnostics and therapeutic strategies for individuals with TBRS.
Dr. Rosanna Weksberg
Dr. Weksberg MD PhD is a Professor of Pediatrics and Genetics at the University of Toronto. She holds a graduate appointment in the Institute of Medical Sciences and is an Associate Editor for the American Journal of Medical Genetics. She has published over 250 peer-reviewed papers.
Dr. Weksberg’s research is focused on elucidating the role of epigenetics in human disease. The lab is interested in exploring the impact of genetic and environmental factors on epigenetic marks and their role in a variety of human genetic diseases and relevant animal models. Recent work highlights the study of genome–wide epigenetic variation in different normal human tissues as well as in neurodevelopmental syndromes, including overgrowth disorders and tumor predisposition. Considerable effort has also, in recent years, been directed at defining the optimal experimental systems to use for the identification of epigenetic alterations associated with human disease. Specifically, these have included evaluations of various cell types, genome-wide microarray platforms, validation techniques, and bioinformatic tools. Her group has made seminal contributions to the field. In 2015, they discovered genome-wide DNA methylation alterations downstream of gene mutations in NSD1, a histone methyltransferase. Now, more than 50 genes that function in epigenetic regulation are known to associated with gene-specific genome-wide DNA methylation alterations. These DNA methylation alterations have already been translated into diagnostic tests. In future, the development of DNA methylation biomarkers for specific epigenetic disorders could make it possible to develop novel therapeutics for such disorders and to monitor responses to therapies in clinical trials.
