Established in 2017, the Kabuki Syndrome Foundation is a non-profit organization dedicated to accelerating research efforts to treat or cure Kabuki syndrome.
We partner with a Medical & Scientific Advisory Board composed of the world’s leading Kabuki syndrome clinicians and research experts. These diverse perspectives help us to identify and prioritize the most important areas of research to fund.
KSF is defining and driving the therapeutic roadmap for Kabuki syndrome. Our bold roadmap focuses on understanding the current state of research and identifying gaps that should be prioritized and accelerated based on patient needs.
We have a goal of raising $5 million over the next three years to address those needs and find treatments.
Our Therapeutic RoadmapBy awarding milestone-based grants to institutions that conduct research and provide best in class care via multi-disciplinary teams, KSF is funding patient-centered healthcare and research.
KSF is facilitating coordinated collection of tools and data (such as biorepositories), building strategic relationships that will pool resources, and supporting clinical trial readiness via awareness, education, and patient recruitment.
KSF aims to enable the identification of new treatment pathways by awarding grants to promising initiatives that focus on our community’s priorities. KSF is always cultivating the awareness and interest of new researchers who can contribute to the Kabuki syndrome landscape.
Jill is an Executive Vice President and head of U.S. operations for Dig Insights, a leading consumer insights and strategy consultancy. Previously, Jill spent much of her career working in global consumer products companies, as well as being a Partner in a major brand strategy consultancy and running her own consulting practice for six years.
Jill holds an MBA from Northwestern’s Kellogg School of Management. She and her husband Pat live in Chicago with their two daughters. Jill’s connection to Kabuki Syndrome is through her 15-year old niece, Lilly, who thrives while living with Kabuki Syndrome. In addition to co-founding KSF, Jill has also served on the planning committees for the 2018 and 2021 KSF Research Conferences.
Annie Dean is Director of Remote Work at Facebook. She is a globally recognized expert on remote and flexible working whose work has been featured in The New York Times, The Wall Street Journal, Fast Company, CNBC’s “Squawk Box,” Cheddar TV, and more. Prior to joining Facebook, Annie led new ways of working advisory as a Vice President at Deloitte. In 2016, Annie cofounded Werk.co, a remote working and flexibility data and analytics startup. Werk.co raised $5M in venture capital to support the Fortune 500 in strategically adopting the future of work; it was acquired in 2020 and has been rebranded to WerkLabs. Annie began her career on Wall Street as a corporate attorney representing institutional lenders in billions of dollars of transactions secured by real estate. She earned her BA summa cum laude from Syracuse University and her law degree from Fordham University. Annie is the proud parent of a 5-year-old son with Kabuki syndrome, and a 7-year old neurotypical son.
Pat started his career in Commercial and Investment Banking and later worked in Management Strategy Consulting for Booz Allen Hamilton and Bain & Company. He holds an MBA with Honors from the University of Chicago Booth School of Business. After leaving the corporate world, he has spent much of the last 10 years focused on various efforts in support of his kids, their schools and the community he and his family live in. He has coached numerous basketball, soccer and softball teams, serves on the board for the local girls softball association, and runs their House League. He has chaired a fundraising committee for the PTO which is one of the largest contributors to the school. He has also served as President of the School Board Caucus, on a community task force evaluating the need for a new middle school, and was Co-Chairman of a campaign which successfully passed a $40MM bond referendum to fund construction of a new local school. Like Jill, Pat has been inspired by his 1-year old niece with Kabuki Syndrome to help advocate for the Kabuki Syndrome community and is also currently Co-Chair of the 2018 Kabuki Syndrome Research Conference planning committee.
Leila is a founding partner of Kindred Capital, a venture capital firm based in London England with over $200M under management. Prior to founding Kindred, Leila was on the founding team of Silicon Valley based genomics company GenapSys, and spent a number of years at Bain & Company as a management consultant. She has a degree in math and philosophy from Yale University and a Harvard Business School MBA. Leila is the proud parent of 6-year old daughter Roya, who was diagnosed with Kabuki Syndrome when she was 6 months old, and was the inspiration for the Roya Kabuki Initiative at Boston Children’s Hospital which Leila set up with her husband Edoardo. Together Leila and Edoardo, together with their friends and family, have fully sponsored the first four years of the Roya Kabuki Initiative, which constitutes an interdisciplinary Kabuki clinic as well as a research program to search for therapies and eventually a cure for Kabuki Syndrome. Leila lives in London, England, with her husband Edoardo, and their daughters Roya and Aria, and their son Luciano.
Edoardo Zegna is the Director of Innovation at Ermenegildo Zegna Group, and is an active investor in technology companies and start-ups. His career has been focused on retail and digital disruption, having been on the founding team of American clothing retailer Everlane, and starting his career at The Gap both in New York and in their corporate headquarters in San Francisco. Together with his wife Leila, Edoardo lives in London with their three children, including their 4 year old daughter Roya who has Kabuki Syndrome. Roya served as the inspiration for Edoardo and Leila to establish the Roya Kabuki Initiative at Boston Children’s Hospital, which they continue to be very involved in. Edoardo earned his BA from Georgetown University.
Tom is a fourth generation owner and VP of his family’s 11 store supermarket chain. Tom has held many positions with the company and is currently VP of the E-Commerce Division, Digital Marketing, Produce, and Change Management. Prior to joining his family’s company Tom worked for Nestle Waters North America on their finance team. For the last 20 years, Tom and his family have been heavily involved in raising funds and driving research for the Eye Research Center at Yale Medical Center. Tom has a bachelor’s degree in business management and psychology from Bryant University in Smithfield, Rhode Island. Tom and his wife Jenna live in Connecticut and are the proud parents of 3 children, Harper, James, and Sam who was diagnosed with Kabuki Syndrome at just 3 weeks of age. Since the birth of Sam, Tom has been in search of a way to get involved in mobilizing the efforts in driving research for Kabuki syndrome and is excited to be a part of the KSF board.
Dr. Olaf Bodamer, MD, PhD, co-directs the Roya Kabuki Syndrome Program at Boston Children’s Hospital. This multidisciplinary and patient-centered initiative is focused on finding treatments for children and adults with KS. Dr. Olaf Bodamer is the Park Gerald Chair in Genetics & Genomics, Associate Chief of Genetics & Genomics at Boston Children’s Hospital. He is an Associate Professor at Harvard Medical School.
Dr. Jacqueline Harris, MD, at Kennedy Krieger Institute/Johns Hopkins Medical Institution, specializes in neurologic and cognitive manifestations in Kabuki syndrome. Dr. Harris is the director of Kabuki Syndrome Services at Kennedy Krieger and the Principle Investigator of these Kabuki syndrome studies.
Dr. Hans T. Bjornsson is an Associate Professor, Genetics and Pediatrics at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University; Associate Professor Translational Medicine and Pediatrics at the University of Iceland – Háskóli Íslands; and the Clinical Director, Clinical Genetics at Landspitali University Hospital.
Dr. Margaret P. Adam’s primary interests include the diagnosis and management of genetic conditions from infancy to adolescence. Dr. Adam is a Professor of Pediatrics, Division of Genetic Medicine, at the University of Washington School of Medicine and an Attending Physician at Seattle Children’s Hospital.
Dr. Siddharth Banka, MBBS, MRCPCH, PhD, aims to improve the diagnosis, management and treatment of rare diseases through clinical expertise and research. Dr. Banka is a Clinical Senior Lecturer at the University of Manchester and a Consultant Clinical Geneticist at Manchester University NHS Foundation Trust.
Dr. Brittany Simpson, MD is focused on providing clinical care and researching epigenetic syndromes, such as Kabuki syndrome, as part of the Epigenetics Syndrome Clinic at Cincinnati Children’s Hospital. Dr. Brittany Simpson, MD is a Clinical Geneticist at Cincinnati Children’s Hospital & Medical Center and Assistant Professor of the University of Cincinnati Pediatrics.
Dr. Giuseppe Merla, PhD, is a Professor of Molecular Biology at the University of Naples Federico II and the Director of the Laboratory of Functional and Regulatory Genomics at IRCCS CSS in San Giovanni Rotondo, Italy.
Dr. Kasturi Haldar, PhD, is the Rev. Julius A. Nieuwland C.S.C. Professor of Biological Sciences at the University of Notre Dame and the Editor-in-Chief of PLoS Pathogens, University of Notre Dame. Dr. Haldar’s research goal is to understand molecular mechanisms to find treatments for rare neurological disorders and neglected infectious diseases.
Professor David Genevieve is a professor in clinical genetics at Montpellier University and the Director of the Rare Diseases reference center for malformative syndrome and developmental anomalies in the genetic department at the University Hospital of Montpellier, France. Dr. Genevieve is also the president of Maladie rare Occitanie, a service dedicated to the hospital-city link for people with rare diseases. Pr. Genevieve‘s clinical and research focus is on rare diseases affecting development and cognitive function in chromatinopathies.
Dr. Rosanna Weksberg is a Professor of Pediatrics and Medical Genetics at The Hospital for Sick Children (SickKids) and University of Toronto. Dr. Weksberg’s research focuses on epigenetic changes associated with human disease, particularly in growth and neurodevelopmental disorders. Dr. Weksberg is an Associate Editor for the American Journal of Medical Genetics and Frontiers in Genetics.
Dr. Alessio Zippo is the Director of the Laboratory of Chromatin Biology & Epigenetics and an Associate Professor of Molecular Biology at the University of Trento, Italy. Dr. Zippo’s research focuses on epigenetic reprogramming in cell plasticity and chromatin’s role in rare diseases.
Janet’s professional career began as a consultant at Deloitte Consulting, where she worked with Fortune 500 companies in the US and Europe streamlining business processes into integrated management systems. After consulting, Janet transitioned into retail where she managed $18M in annual sales and established profitable vendor relationships. She has a BS from Boston College. One of her proudest achievements has been parenting her children, Emily and Ryan. For the past 12 years, Janet has been navigating her daughter’s Kabuki syndrome diagnosis and has been a fierce advocate for her medically, socially, and academically. Janet is thrilled to be working with KSF on mobilizing fundraising efforts to find a viable treatment for Kabuki syndrome. Janet lives in New York City with her husband Michael, and her children Emily and Ryan. In her spare time, she is troop leader to 14 girls with a variety of special needs, introducing them to leadership and life skills in different contexts.
Dr. Bruce Bloom helps drive KSF’s research and clinical development plans and supports coordination with the patient advocacy, research, and clinical communities. He also serves as Chief Science Officer for Goldman Philanthropic Partnerships to support the global research funding decision-making, and is the Chief Collaboration Officer of Healx, a Cambridge UK biotech using AI to create novel therapies for rare disease patients. Dr. Bloom founded and led the global charity Cures Within Reach that has brought over a dozen redeveloped drug therapies to patients through proof-of-concept clinical trials, and created CureAccelerator®, the online drug redevelopment collaboration marketplace. Dr. Bloom is an Ashoka Social Entrepreneur Fellow, the Patient Advisory Board Chair for the Institute for Translational Medicine, a member of the Vanderbilt Institute for Clinical and Translational Research External Advisory Board, an Executive Board member of Mission: Cure, and is on the Advisory Boards of the Dr. Ralph and Marian Falk Medical Research Trust, Every Cure, Beacon, the Rare Disease Research Hub of the Westchester Biotech Project, ReBootRx, and is on the editorial board of ASSAY and Drug Development Technologies.
Dr. Clara Tang is responsible for leading the development and execution of the Kabuki syndrome research strategy. Since completing her PhD in neuroscience at the University of Cambridge, Clara has held various roles in the life sciences industry. Most recently, she was the Alliance Strategy Manager at Healx (an AI-powered biotech focused on rare disease drug discovery and development) where she led the development and alliance management of all collaborations with academic and patient group partners. Previously, Clara was a consultant supporting global leaders in the life sciences and pharmaceutical industry with strategic decision making and implementation.
Amanda has worked in the healthcare industry for the past ten years as a front-line emergency and critical care nurse and as a medical content writer. Her daughter has Kabuki syndrome, and their rare disease journey began in 2014 with a lot of advocacy and answer-seeking in a geographical area where Kabuki syndrome had not been previously diagnosed. Amanda holds bachelor’s degrees in nursing and health sciences, as well as a graduate certificate in public health. She greatly enjoys combining her experiences to further accelerate and advocate for Kabuki syndrome families and research. Amanda lives in the Seattle area with her husband and two children. In addition to working with KSF, she co-leads the Pacific Northwest Kabuki Syndrome Network, which gathers families in the region for an annual weekend of socialization, helpful presentations, and research updates.
After working in marketing and advertising for 15 years and leading the digital division of one of the largest agencies in the UK, Jessica McAndrew founded her own marketing and management consultancy that delivers business growth through digital solutions. She’s worked with blue chip clients such as Merck Pharmaceuticals, Bausch Health, Discovery Channel, Huggies, Dolby and many more. Jessica now lives in Scotland with her husband, son Aidan and miniature schnauzer, Otis. Aidan was diagnosed with Kabuki syndrome at five months old, which led Jessica and her husband to find KSF and the like-minded individuals determined to progress research and treatments for Kabuki syndrome.
Dana Levinson is the proud parent of an 13-year-old daughter with Kabuki Syndrome. Since her daughter’s birth, Dana has been involved with the Kabuki Syndrome community by writing articles for the Kabuki Syndrome Network Website and serving as a “first point of contact” for families and professionals wanting to learn more about Kabuki Syndrome.
In 2015, Dana led the planning of the first research-based Kabuki Syndrome conference at Johns Hopkins Hospital in Baltimore. Then, in 2018, Dana helped establish the Kabuki Syndrome Foundation, and currently helps monitor the body of research that is ongoing across various institutions.
Corinne Stobaugh is a mom to a 10 year old boy with Kabuki syndrome. She is also a board certified Anatomic Pathologist and is dedicated to using her knowledge both as a Kabuki mom and as a medical doctor to assist in furthering the goals of the Kabuki Syndrome community.
Corinne’s work with the Kabuki Syndrome Foundation is centered around helping researchers categorize and map the medical literature regarding Kabuki syndrome to identify needs and accelerate publications.
Noah J. Timko is a research specialist with the Department of Anesthesiology and Perioperative Medicine at the University of Missouri (MU) School of Medicine where he leads clinical research. Noah has earned two bachelor’s degrees (BS Biochemistry and BHS Health Sciences) with honors, and a Master of Public Health from MU.
Noah is a proud uncle to a child with Kabuki Syndrome. Noah works with KSF to help advance its efforts on research-promotion, interdisciplinary collaboration, and community education.
