Leadership

Founder and Chair

Laura is the Founder and Chair of the ASXL Rare Research Endowment Foundation and mother of Alex, who has Bohring-Opitz Syndrome (ASXL1). She is passionate about supporting evidence-based research and improving management of care for ASXL families. Laura grew up in the New York metropolitan area and eventually relocated to southern Maine where she lives with her husband, Michael, and their children, Alexander, Abigail, and Natalia. She is the first person in her family to attend college and has a B.S. in Operations Research & Industrial Engineering from Cornell University, and a Masters in Systems Engineering and Graduate Certificate in Engineering Management from Stevens Institute of Technology. She has completed a Certificate in Leadership Excellence from Harvard and is certified in Scaled Agile Framework as well as Six Sigma. Laura worked for the Department of Defense as an Integrated Logistics Support Manager and Research & Development Systems Engineering Advisor for several years. After completing her masters degree, she changed careers to work for American Express where she has served in various consultative and capability development roles for over a decade. American Express recognized Laura with the 2018 Top 10 Global Parent of the Year Award, 2019 Mother of the Year for Working Mother Media’s 100 Best Companies, and 2021 Chairman’s Award. Laura enjoys traveling and building relationships with individuals from around the world and learning about different cultures.

Treasurer

Daniel’s son Asher received his diagnosis of Bohring-Opitz Syndrome in January of 2018. When he’s not spending time with his family, Daniel is the general manager of Theatre Projects a design consultancy specializing in performing arts and gathering venues. Daniel is the key decision-maker and manager of Theatre Projects’ North and Latin American operations where he advises their board of directors and oversees operations, business development, finance, human resources, marketing, contracting, and day-to-day management of the company.

Previously, Daniel served as the general manager and CFO of the groundbreaking dance troupe, Pilobolus, and as COO/CFO for Guild, a nationwide experiential marketing agency. As the owner of a theatrical lighting and technical management company, he designed lighting and managed multidisciplinary teams for more than 250 productions, winning several awards. Daniel is admitted to the bar in New York State and is a member of United Scenic Artists Local 829 of IATSE. He earned his Bachelor of Arts from Northwestern University and graduated Cum Laude from Brooklyn Law School.

Lauren lives in Birmingham, Alabama with her family of five, including her daughter Adair, who was diagnosed with Bainbridge-Ropers Syndrome (ASXL3) in 2020.

Originally from Atlanta, Georgia, Lauren graduated Magna Cum Laude from Florida State University. Her degree in psychology, coupled with a minor in family sciences, led her to pursue a career in psychiatric research management at the Medical University of South Carolina.

Adair’s diagnostic journey reignited Lauren’s passion for medical research. Since then, she has actively participated in multiple ARRE Foundation subcommittees, including serving as the ASXL3 Parent Representative to the UCLA Registry and coordinating the Research Room at the ASXL Family Conference. Lauren is dedicated to informing, advocating, and advancing ASXL research, aspiring to create a brighter future for affected families.

Lauren is also an active member of the board of directors for Smile-A-Mile, a locally based childhood cancer foundation. When she's not spending time with her family, Lauren enjoys playing tennis and indulging in true crime podcasts.

Research Lead

Julie Chandler Lopez is the mother of a child with Borhing-Opitz Syndrome. She is passionate about research of all kinds and improving the quality of life for all children with ASXL disorders. Julie leads the ASXL Professional Network and Research Committee.

She grew up in Portland, Oregon and now lives in small town Pocatello, Idaho with her husband and five children. She was co-founder and President of FSA, a local non-profit making a difference in children's education for the past nine years.

Sankar Madhavan is the father of a child with Bainbridge-Ropers Syndrome. He lives in Luxembourg.

Michael is the father of a child with Bainbridge-Ropers Syndrome. Michael hopes to assist the ASXL community by enhancing an exchange of information and resources among families impacted by ASXL syndromes. He is an attorney with Cooper Levenson law firm based in Atlantic City, New Jersey, with offices throughout the country. Michael was born and raised in New Jersey and splits his time between New Jersey and Florida. He primarily practices in the areas of estate planning and corporate transactions. Michael earned a B.A. in Criminal Justice from George Washington University, a J.D. from Nova Southeastern University and an LL.M. from Western New England University.

Amanda Scheirer is proud to be the first Shashi-Pena Syndrome parent to serve on the ARRE Foundation board, representing her sweet son Connor Finn who was diagnosed in 2020.

Amanda has cultivated a long career in the arts as a writer, director, performer (and coffee enthusiast). Amanda moved to Orlando after completing her Masters of Philosophy in Theatre-Playwriting from Trinity College in Dublin, Ireland.

She is the founder of Without Fear Theatre, a company whose mission is to exclusively produce new works that feature live music and are created by local artists in a highly collaborative, creative process. Amanda has also worked for Universal Orlando Entertainment, Ford’s Theatre in Washington D.C. and the historic Civic Theatre of Allentown, Pennsylvania. Studying and working in the entertainment industry internationally has gifted Amanda with quite the collection of adventurous, provocative, and funny stories which she has used to create several internationally produced plays and musicals as well as her first novel “How to Say I Love You”.

Amanda enjoys the many hats she’s worn over the years, but is especially proud of the one that reads ‘mom’.

Executive Director

Amanda joined the ARRE Foundation in 2021 as the organization’s first staff member. She leads the activities that support the ARRE Foundation’s mission of advancing research and improving quality of life for families living with ASXL-related disorders, including fundraising, programs, events, and partnerships.

Amanda brings over 15 years of experience in donor-centered fundraising, event management and nonprofit administration experience to the ARRE Foundation. In previous roles, she served at the Pulmonary Hypertension Association, DC Central Kitchen, and the ARVO Foundation for Eye Research. She holds a BS in Organizational Communication from Ithaca College and an MA in Nonprofit Management from the Notre Dame of Maryland University. Amanda is originally from Western New York and lives in Maine with her family.

Scientific advisor

Rachel Heilmann obtained her Doctorate of Pharmacy degree from West Virginia University. Following pharmacy school, she completed 2 years of Clinical Pharmacy Residency training and obtained her Board Certification in Pharmacotherapy. Before her career in rare disease, she worked in a large, non-profit, integrated healthcare system, practicing in Primary Care and Endocrinology. She spent the last 8 years managing up to 15 Clinical Pharmacy Specialists in Medical Specialties. Throughout her career, Rachel has been passionate about patient-centered outcomes research, improving patient care, and advocating for pharmacy services as part of the care team. In 2019, her daughter Rory Belle was born and diagnosed with NARS1 disease in 2020. She subsequently passed away from this rare, neurodevelopmental disease. Her experiences with her daughter and knowledge of the healthcare system have compelled her to pivot her career to focus on rare disease. While not classically trained as a scientist, Rachel has years of real world experience advocating for patients across the spectrum of care. She has joined COMBINEDBrain to become immersed in the world of neurodevelopmental diseases and to drive the vision of the organization forward.

University of Michigan Medical School

Dr. Stephanie Bielas is the Morton S. and Henrietta K. Sellner Professor in Human Genetics and Associate Professor of Human Genetics and Pediatrics at the University of Michigan Medical School. Research in her lab focuses on discovering the genetic basis of human neurodevelopmental disorders. The Bielas lab performs functional follow-up using mammalian models of neural development, including primarily mouse models and human forebrain organoids. The Bielas lab has revealed novel features of human brain development and pathogenic mechanisms that are critical for developing therapeutic interventions. Dr. Bielas serves as a scientific advisor to Leo’s Lighthouse Foundation and ASXL Rare Research Endowment Foundation. Dr. Bielas also serves a principle investigator building clinical and research infrastructure to improve access to pediatric genetic diagnostic testing in India. This highly impactful research has been critical for identifying founder variants, with the direct impact of reducing testing cost, expanded availability of genetic testing to potential carriers and highlighting therapeutic targets.

Kennedy Krieger Institute and Johns Hopkins University

Dr. Natasha Ludwig is a clinical neuropsychologist and Program Director of the Developmental Neuropsychology Phenotyping Unit at Kennedy Krieger Institute. She is also an Assistant Professor of Psychiatry and Behavioral Sciences at the Johns Hopkins University School of Medicine. Dr. Ludwig serves patients with a wide variety of medical and neurodevelopmental conditions from birth through adulthood primarily with an identified or presumed genetic etiology. Her research focuses on measurement of cognitive and functional skills in individuals with genetic conditions associated with neurodevelopmental disorders (GCAND). Dr. Ludwig is also the sibling of an adult with Bainbridge-Ropers Syndrome (ASXL3) and shares the lived experience of many of the families in our community.

University of California, Los Angeles

Dr. Bianca Russell is a clinical geneticist at University of California, Los Angeles (UCLA) who sees patients with metabolic and genetic conditions. She has been following patients with ASXL-related disorder since 2013 and has made this the research focus of her career. She started the ASXL Registry as a resident at Cincinnati Children's and expanded it to include a biobank when she transitioned to UCLA.

Dr. Bianca Russell received her bachelors degree from Connecticut College in New London, Connecticut in 2008 and her medical degree from the University of California, Irvine in 2013. She completed her residency in Pediatrics and Human Genetics at the Cincinnati Children's Hospital in Cincinnati, Ohio.

Boston Children’s Hospital

Dr. Wen-Hann Tan a clinical geneticist at Boston Children's Hospital with an interest in diagnosis and management of rare genetic syndromes, including pediatric cancer predisposition syndromes, vascular malformations, and other unusual clinical findings. He has also been actively involved in a longitudinal natural history study and various clinical trials in Angelman syndrome, which is a rare neurodevelopmental disorder.

Administrative Volunteer

Joanna is an educational sign language interpreter. She lives in Michigan with her family, which includes Juniper who was diagnosed with Bainbridge-Ropers Syndrome in 2020. She volunteers with the ARRE Foundation as she is passionate about supporting efforts to provide hope to individuals and their families who are living with the challenges of ASXL-related disorders.

ASXL2 Parent Representative, ASXL Registry Steering Committee

Teresa is a mom to 3 and grandmother to two. She has spent the last 17+ years homeschooling her children. She was born and raised in NC, lived in Ca where all her children were born and has been back in NC for years now. Her youngest child, Issac, was diagnosed with Shashi-Pena Syndrome in early 2016. She has previously served on the PEER group for the Undiagnosed Disease Network as well as runs the parent support group for the Shashi-Pena Syndrome Group. She volunteers because she wants other parents to know they aren't alone. In the earlier years before Issac was diagnosed Teresa felt there weren't other moms to talk too. Even after the diagnosis she still felt lacking in support. By meeting other parents through the UDN, Shashi-Pena Group and the ARRE Foundation she has felt she met her "tribe" in some ways. While all our kids differ we can still offer support and friendship to each other.

Newly Diagnosed Committee

Sarah is a stay-at-home mom. She lives in Chicago with her husband Shawn, and three children. Her oldest son, Sammy was diagnosed with Shashi-Pena Syndrome in 2016. She volunteers with the ARRE Foundation because she is passionate about helping other families navigate the adventure of having a child with an ASXL-related disorder.