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

Staff

Jill

Jill Kiernan

Staff

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Kit Church

Staff

Dr Eric Diehl

Dr Eric Diehl

Staff

Chelsea Spence

Staff

TBRS Community Board of Directors

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Kacee Richter

President

Kerry Grens

Vice President

Zoe Wisnoski

Secretary

Tom Watson

Treasurer

Erin Rooker

Marketing Director

Monica Bejano

Board Member

Robert Thibodeau

Board Member

Scientific and Medical Advisory Committee

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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

Professor Kate Tatton-Brown is a Medical Genetics doctor working in London, UK. She studied medicine at the University of Oxford before training first in Paediatrics and then in Medical Genetics. She has been investigating conditions associated with increased growth and a learning disability since 2001 and has published widely in this area. She also holds a specialist growth clinic at St George’s Hospital, London, where she meets patients and their families from around the world. Kate, as part of a team of scientists and clinicians, first discovered DNMT3A gene alterations as a cause of an overgrowth-intellectual disability syndrome in 2014. Since this time she has been working to delineate the clinical associations of this overgrowth disorder and to develop evidence-based management guidelines. Some of this work has already been published but work is also ongoing and being undertaken in close collaboration with the TBRS family group.
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My pledge to families is to pursue every research angle we can to find treatments for TBRS.

Kerry Grens

Kerry Grens is a TBRS parent and the vice president of the Tatton Brown Rahman Syndrome Community board of directors. When she is not busy at those two roles, she earns a living as the communications manager for the Department of Neuroscience at Washington University School of Medicine. Prior to her current position, she was a senior editor at The Scientist magazine and previously reported for Reuters Health, WHYY (the NPR and PBS affiliate in Philadelphia), and New Hampshire Public Radio. Her articles have also appeared in Modern Healthcare, public radio’s Marketplace, and Nature. Kerry has a bachelor’s in biology from Loyola University Chicago and a master’s in biological sciences from Stanford University. She lives with her husband, three children, and various animals in Missouri.
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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.

Timothy Ley

Dr. Timothy J. Ley received his BA from Drake University, his MD degree from Washington University Medical School, and performed his internal medicine residency at Massachusetts General Hospital. He completed fellowships in Hematology and Oncology at the NIH and at Washington University, and joined the faculty at Washington University in St. Louis in 1986. He now holds the Lewis T. and Rosalind B. Apple Chair in Oncology, is Professor of Medicine and of Genetics at Washington University, and serves as Director of the Stem Cell Biology Section in the Department of Medicine. Ley is a past president of the American Society for Clinical Investigation, past treasurer of the American Association of Physicians, a fellow of AAAS and the American Academy of Arts and Sciences, and a member of the National Academy of Medicine. Ley has performed pioneering studies that have defined the genomic and epigenomic landscapes of acute myeloid leukemia (AML). His laboratory first defined the landscape of DNMT3A mutations in AML in 2010, and their important role in Age Related Clonal Hematopoiesis (ARCH). Both inherited and acquired DNMT3A mutations create an abnormal state that makes hematopoietic stem/progenitor cells more likely to be transformed. A better understanding of these mutations, and additional factors that contribute to transformation, will be important for determining the risk of AML development for patients with Tatton Brown Rahman Syndrome.
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Our practice has a soft spot for children with special needs and complex health challenges.

Dr. Joseph T. Malak

Dr. Malak is the founder of Bambini Pediatrics. A native of Cleveland, Ohio, he attended Western Reserve College (graduating magna cum laude with honors in biology) and Case Western Reserve University School of Medicine. He then moved to Kansas City, and completed a residency in pediatrics at Childrens Mercy Hospital in 1984. From there, he went on to serve as chief resident in pediatrics at Albany Medical Center. In recent years, Dr. Malak has developed a growing interest in the field of integrative pediatrics. He was a charter member of the American Academy of Pediatrics Section on Complementary, Holistic, and Integrative Medicine. He has also been a member of the Holistic Pediatric Association. His interests currently include whole food nutrition (he is a past member of the Weston A. Price Foundation), the Body Ecology diet, and biomedical treatment approaches to autistic spectrum disorders, asthma, allergy, ADHD, and PANDAS.
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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.

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.

We are committed to understanding the cellular underpinnings of TBRS and relentlessly working towards therapeutics for the disorder.

Dr. Harrison Gabel

Dr. Harrison Gabel received his BA in Molecular Biology from Princeton University and his PhD in Genetics from Harvard University. He is currently an associate professor in the Department of Neuroscience at Washington University in St. Louis. Since establishing his laboratory in 2015, Dr. Gabel’s research group has studied molecular mechanisms of gene regulation that contribute to development and plasticity in the mammalian brain. The lab combines genetic, genomic, and biochemical approaches in mouse and human models to identify and dissect important gene-regulatory pathways in neurons. A broad goal of this work is to understand how disruption of transcriptional regulation can lead to autism and related neurodevelopmental disorders. Dr. Gabel’s research group has developed multiple preclinical models of TBRS. In ongoing studies his group is investigating the molecular and cellular consequences of DNMT3A mutation in these models and developing experimental systems to evaluate candidate therapeutic approaches for TBRS.
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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

Dr. Rachel Rau is an Associate Professor of Pediatrics at the University of Washington and a board-certified pediatric hematologist-oncologist at Seattle Children’s Hospital in Seattle, Washington. Dr. Rau received her BA in biology at Case Western Reserve University, Cleveland, OH and her MD from Ohio State University College of Medicine. She completed her pediatric residency and pediatric hematology/oncology fellowship training at Johns Hopkins University School of Medicine. Dr. Rau specializes in the care of children with blood disorders including leukemia. She conducts clinical research through the Children’s Oncology Group (COG), the largest pediatric cancer consortium in the world. She has led 5 COG studies, each investigating novel strategies for the treatment of children, adolescents, and young adults with leukemia. Dr. Rau’s lab-based research program is focused on understanding the mechanisms that cause leukemia and drive therapy resistance with the ultimate aim of translating these findings into clinical applications. A major focus of the Rau lab is the study of the effects on blood development of DNMT3A mutations including those found in individuals with TBRS. This research has been greatly accelerated through the generous participation of many individuals with TBRS and their families from around the world.
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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

Dr. William Gibson is a Senior Clinician-Scientist at Children’s and Women’s Health Centre of British Columbia, and Professor of Medical Genetics at the University of British Columbia, both in Vancouver. His research lab is located within the BC Children’s Hospital Research Institute, where he and his team study rare disorders of the epigenetic machinery. His group were the first to publish rare, de novo germline variants in EZH2 as the cause of Weaver syndrome in 2011 (MIM #277590), and the first to publish the effects of rare, de novo variants in EED as the cause of what has come to be known as Cohen-Gibson Syndrome (MIM #617561). Their work also helped to define genotype-phenotype correlations in SETD1B-associated epilepsy (MIM #619000). His group focuses on rare disorders caused by perturbations of the Polycomb Repressive Complex 2 (PRC2), made up of EZH2, EED and SUZ12. They operate a registry for patients with rare diseases that affect PRC2 complex activity, with a particular interest in neurodevelopmental and transgenerational effects[e]. Dr. Gibson obtained an Honour’s BSc from the University of Toronto in 1991, MD from the University of Western Ontario (now Western University) in 1995, FRCPC from Alberta Children’s Hospital and the University of Calgary in 2000, and PhD from the University of Cambridge in 2005. He is accredited by the Royal College of Physicians and Surgeons of Canada, the Canadian College of Medical Geneticists and the College of Physicians and Surgeons of British Columbia. He is also an Overseas Member of the Royal Society of Medicine.
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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.

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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.

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. 

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

Jill

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.

kacee

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.

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