Advocating for individuals with Kabuki syndrome by driving research that will change lives.

Annie Dean is the VP of Team Anywhere at Atlassian. Prior to Atlassian, she was the 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.

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.

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 19-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.

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.

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.

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.

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. 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. 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. 

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. 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. 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.

Max is a clinical geneticist and principal investigator at Boston Children’s Hospital and an Assistant Professor of Genetics at Harvard Medical School. His clinical and research work focuses on genetic disorders of chromatin biology. He obtained his MD and PhD at the University of California, San Francisco, where in his graduate work with Jonathan Weissman he developed CRISPR interference and activation technologies. He trained in Pediatrics and Clinical Genetics at Boston Children’s Hospital. During this time, he conducted postdoctoral work with Jason Buenrostro at Harvard University and the Broad Institute, where he developed a new method for understanding the organization of DNA regulatory elements using chromatin accessibility measurements. His lab aims to use state-of-the-art genetic and molecular tools to understand the mechanisms and identify paths for treatment across the entire class of chromatin disorders. He serves as co-director of the EpiChroma clinic, which specializes in these disorders

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. Brittany Simpson, MD is focused on providing clinical care and researching chromatin conditions, such as Kabuki syndrome, as part of the Center for Experimental Neurotherapeutics at St. Jude Children’s Research Hospital. Dr. Brittany Simpson, MD is a Clinical Geneticist at Le Bonheur Children’s Hospital and St. Jude Children’s Research Hospital and Assistant Professor of the University of Tennessee Health Science Center.

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.

Dr. David Bedford is an Associate Director of Translational Sciences at Nxera Pharma UK. He brings significant experience in program leadership and portfolio management across pharma and biotech, including Takeda, Mission Therapeutics, Healx, and Nxera. David has a strong track record of identifying and managing strategic external collaborations, to embed innovative platforms and solutions within complex matrix research environments. During his time at Healx, he led multiple AI-augmented drug repurposing programs for rare diseases and was responsible for the scientific and operational delivery of Healx’s first wet laboratory.

Before moving into industry, David completed an extensive postdoctoral research fellowship at St. Jude Children’s Research Hospital, where he used mouse genetics to investigate the roles of the transcriptional co-activators CBP and EP300 in development and disease. This work helped shape his ongoing interest in the biological mechanisms underlying congenital developmental disorders, including Rubinstein-Taybi syndrome, Rett syndrome, and Kabuki syndrome.

A physician by training, Prashant has a 23 year career in clinical research which includes operations, project management, site management, business development and medical affairs. These roles were at CROs including Quintiles, Parexel, Premier Research and Ergomed, where he initially focused on cardiovascular safety and then expanded to start up and set up activities for global clinical trials in a variety of indications and therapy areas. Prashant has also worked with end point data collection at organizations such as Clario (previously ERT) and Calyx. A passionate team player, Prashant comes from a close knit family that suffers from rare diseases and hence his primary focus will always be patient care.

Dr. Handelin is a veteran entrepreneur and molecular medical geneticist who has been a pioneer in the responsible application of genetics to clinical medicine over a 40-year career. Over the last decade, she has turned from technology and science innovation to redesigning the business and financing of her beloved industry, culminating in the establishment of The 90-10 Institute. Starting In 1987 Dr. Handelin established the first commercial DNA testing laboratory, at Integrated Genetics (now Genzyme Genetics), followed by cofounding one of the first gene therapy companies (Genovo), a pioneering computational biology company (Kenna Technologies) and BioPontis Alliance, a venture-like Fund with a novel risk sharing investment and licensing model. More recently she was the cofounder and CEO of Audacity Therapeutics, a public benefit (B Corp) pharmaceutical company and BioPontis Alliance for Rare Diseases, a nonprofit organization dedicated to bringing new therapies forward for rare genetic diseases. Dr. Handelin served 3 years on the board of RedPath Integrated Pathology, Inc., and 3 years as board member of NeuroPointDx/Stemina and is currently serving on the Board of Transformative Bio. She formerly served on scientific advisory boards of several genomics companies (e.g. EXACT Sciences). She served 10 years as a board member of the IRB education nonprofit organization Public Responsibility in Medicine and Research (PRIM&R), as well as on a variety of federal committees and advisory panels on ethics in genetic testing, including the Secretary’s Advisory Panel on Genetics, Health and Society. Dr. Handelin took her Ph.D. at the Oregon Health Sciences University with thesis work completed at the Massachusetts Institute of Technology and has authored journal publications in human genetics, bioethics for industry and genetics education. Dr. Handelin holds a Non-Profit Management Certificate from the University of Delaware.

Dr. Arjun Natesan has a passion for rare disease research and is currently Senior Vice President leading Translational Research at Ultragenyx.  Throughout his career, his focus has been to use cutting-edge technology to develop therapeutics for individuals facing a significant unmet need.  Prior to Ultragenyx, he was the Director of Research & Early Development at Medivation conducting research on novel cancer medicines.  Dr. Natesan started his career in biotechnology in 2005, moving to the San Francisco Bay area to join Geron, where he focused on developing stem cell therapeutics to treat neurological disease.  Dr. Natesan conducted post-doctoral research at the National Institutes of Health, received his Ph.D. in neuroscience from Texas A&M University, and a BA in chemistry from the University of Chicago.

As an entrepreneur, researcher, consultant, and innovator, Jeff Trotter has been a pioneer in the evolving health economics and outcomes research community and is an industry leader in the design and implementation of patient registries, observational studies, and other RWE (real-world evidence) initiatives. Jeff currently supports the scientific and strategic RWE initiatives of life-sciences and related organizations through his eponymous consultancy, J Trotter Research & Consulting.

In 1990, Jeff founded Ovation Research Group, an internationally known research and consulting firm (acquired by ICON Clinical Research) and has been in executive management with other research companies (ClinTrials Research, ICON, PharmaNet/i3, inVentiv Health (now Syneos)). Most recently, Jeff served as Senior Vice President – Worldwide Evidence for Worldwide Clinical Trials, a leading mid-sized contract research organization, after Worldwide acquired the Late Stage (RWE) research business unit of Continuum Clinical, a professional services company including additional capabilities in Patient Recruitment and Medical Communications, that Jeff co-founded in 2014.

Jeff has spoken widely in front of varied industry audiences and has published over 75 original articles and research papers — including a book for the American Hospital Association, The Quest for Cost – Effectiveness in Healthcare: Achieving Clinical Excellence While Controlling Cost. Jeff is a founding member of the International Society for Pharmacoeconomics and Outcomes Research (ISPOR), and holds a Master of Management (MBA) degree from Northwestern University’s Kellogg School of Management and a Bachelor’s degree in Accounting from the University of Illinois.

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.

Mackay Gunn is a philanthropic management professional with more than 15 years of experience in frontline fundraising and nonprofit consulting. Her expertise spans strategic development planning, donor communications, event management, prospect solicitation, and volunteer and board engagement. She is thrilled to bring this experience to the Kabuki Syndrome Foundation team.

Mackay is known for her empathetic and creative leadership style and is deeply committed to advancing KSF’s mission through impactful and sustainable fundraising efforts. Prior to joining KSF, she served as a Director at Thread Strategies, where she partnered with small to midsize nonprofits nationwide to build and strengthen their fundraising programs.

In May 2024, Mackay welcomed her second child, Broderick. Just three weeks later, Brody was diagnosed with Kabuki syndrome—an experience that launched Mackay and her family into the world of rare disease. The past year has been a crash course in navigating rare disease care and advocacy, and it fuels her passionate commitment to support the KSF community.

Mackay holds a degree in political science, international relations, and gender studies from the University of Notre Dame. A lifelong traveler, she has explored destinations from New Zealand to Ecuador, embracing the culture, people, and stories of each new place. She and her husband, Jonathan, live in Denver, Colorado, with their two children, Nella and Brody, and their spirited dog!

Amanda worked in the healthcare industry for ten years as an emergency and critical care nurse and as a medical content writer, before transitioning to advocating for Kabuki syndrome research. 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. 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.

Jessica earned her BA in Neuroscience from Vassar College. She studied visual processing and attention at the Smith-Kettlewell Eye Research Institute before completing her PhD in Pharmacology at the University of Washington, where her graduate research focused on the molecular genetics of hearing loss. Jessica’s daughter was diagnosed with Kabuki syndrome in 2012, which sparked her deep commitment to patient-driven research and advocacy. She lives in the Seattle area with her family and is the co-founder of the Pacific Northwest Kabuki Syndrome Network, which hosts annual gatherings for families to connect, learn, and share research updates.

Elizabeth is a non-profit professional with more than 10 years’ experience in marketing and communications. She has worked with organizations in the New York City area, including Habitat for Humanity New York City and Westchester County, Point Foundation and the Lower East Side Tenement Museum. She holds a BA from Boston University and a MA from New York University. She also holds a (now sadly expired) official New York City Sightseeing Guide license and, for many years, moonlit as a tour guide on a sailboat in New York Harbor. She enjoyed that job very much.

Now back on land, Elizabeth lives in Brooklyn with her wife and three children, Ezra, Eve, and June. Her middle child, Eve, was diagnosed with Kabuki syndrome at six-weeks old, launching the family into their rare disease journey. As they have navigated the ups and downs of Eve’s medical and educational needs, the family has experienced joy and heartbreak, milestones and setbacks. Elizabeth hopes to bring this deep understanding of a life with Kabuki syndrome to her work, crafting and sharing stories for KSF and raising funds to fuel research that will ultimately help Eve and others like her live their fullest, truest lives.

A native of Alabama, you can find Elizabeth rooting for the Crimson Tide on Saturdays in the fall. But when there’s no football on, Elizabeth loves to cook, camp, explore the city, and enjoy time with her family.

Dr. Nam Nguyen earned his PhD in Computer Science from the University of Texas at Austin and has spent the past eight years working in the biotechnology industry. He has worked across biotech and research organizations, developing computational approaches to analyze and interpret complex biological datasets. Throughout his career, Nam has worked closely with discovery, translational, and clinical teams to turn data into actionable insights that inform research and development decisions.

Nam enjoys mentoring the next generation of scientists and leaders. He is a reviewer for the Journal of Emerging Investigators and volunteers at Van Lang, the largest Vietnamese language and culture school in San Diego. Most of all, he enjoys being Principal Investigator to Kyren, his endlessly inquisitive son. Nam and his wife, Lysa, live in San Diego, where you can find the family rooting for the Padres, with the exception of Kyren, who somehow became a Dodgers fan.

Kristin Anzelc is an advocate, research ambassador, and adult with Kabuki syndrome. In addition to volunteering with the foundation, Kristin hosts an annual gathering for families in the Baltimore area and works at her church. She earned her BA in Human Services with a Minor in Legal Studies from Stevenson University in Maryland and aims to continue her education.

Through her work with the Kabuki Syndrome Foundation, Kristin helps connect adults and caregivers with resources, shares insights from her lived experience and involvement in research, and supports foundation events.

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.