Organisation

Jennifer is the proud mom of two daughters, Alice and Edith. After spending Edith’s first year of life going from specialist to specialist and undergoing countless tests, Edith was diagnosed with BBSOAS shortly after her first birthday.

The immediate shock, fear, and lack of answers and desperation led Jennifer and her husband to discover the NR2F1 Foundation. Inspired by its impact, she became involved to help Edith and others in the BBSOAS community. When Jennifer first joined the team, she was based in the UK, demonstrating how the foundation truly is helping families and patients around the world. 

Jennifer served as Vice President in 2023 and became President in April 2024, bringing her professional experience to streamline and strengthen board operations. She holds a BA in Business Management from Oxford Brookes University and previously spent 14 years at UBS as a Business Manager in New York and London. 

Jennifer now lives in Houston, Texas, with her husband Tim and their daughters.

After years of searching for answers to find the cause of her daughter Emma's symptoms of multiple visual impairments, seizures, and developmental delays, she was diagnosed with BBSOAS in September 2019. 

After finding the BBSOAS Parents group on Facebook, Ashlee finally found people who "got it." Since then, she has been devoted to helping families and supporters around the world find resources and information through our social media platforms and working on the 2024 & 2026 Family & Scientific Conferences. 

Ashlee lives with her wife and daughter in Phoenix, Arizona. She owns her own printing company EHTM Designs and with that does the design and printing for the NR2F1 Foundation Store. She also manages three teams of prior authorization representatives for radiation oncology and PET/CT clinics in Arizona and Nevada. That has taught her how to write a pretty good letter of medical necessity for anything insurance wants to deny for Emma.

In her not-so-spare time, you can find her visiting her family (who all live within 15 minutes), cheering for the San Francisco 49ers, and being the chauffeur to Emma to school and therapies!

A single phone call with the news that their first-born daughter, Sidelle, had a rare NR2F1 gene variant changed everything. Overnight, Carlie and her family began to forge a new path, one laden with more questions than answers. Through the Internet and then a conference, she met other families across the country affected by an NR2F1 variant. In late 2018, through the determination and power of parent advocacy, the NR2F1 Foundation was born.

As a co-founder Carlie is proud to continue to serve the BBSOAS community alongside an inspiring team of board members, volunteers and advisors who are educating, advocating and pushing for NR2F1/BBSOAS research.

Carlie served as President and Vice President from 2018-2025. Carlie has a B.S. in Special Education, M.S. in Counseling.

Carlie lives in Royal Oak, Michigan with her two daughters, Vivienne and Sidelle, her husband Jeff and their hound Ypsie. She needs strength training, running, a good book, and thrift store shopping to maintain balance.

Brian’s sister, Stephanie, was diagnosed with Ohtahara syndrome, a rare neurological condition characterized primarily by frequent seizures. The underlying causes of Ohtahara Syndrome can vary, and in Stephanie’s case, it was caused by a genetic mutation. 

Throughout Stephanie’s life, Brian observed the everyday realities faced by families navigating challenging conditions within the rare disease community. Brian was inspired by the strength of the BBSOAS community and motivated to contribute his expertise to further the NR2F1 Foundation’s goals.

Brian is a Senior Finance and Accounting leader with experience across public accounting, technology startups, and global corporate finance. He graduated Cum Laude with a Bachelor of Science in Accounting from Duquesne University and is a Certified Public Accountant in Pennsylvania.

Brian currently resides in Austin, Texas with his wife, Lindsey, daughter, Brynley, and two dogs, Lucky and Ari.

Jennifer became connected with other parents of children affected by the NR2F1 mutation a few months after her daughter’s initial diagnosis. Jennifer and her husband watched their daughter miss milestone after milestone. Doctor’s appointments and specialist visits passed with no answer and no direction. 

Finally, after whole exome sequencing, they had a diagnosis... a very rare diagnosis. At that time, very little information was available on the Internet concerning NR2F1 mutations (BBSOAS). However, finding a blog by a now founding board member’s daughter sparked Jennifer and several other parents of known cases to join in sharing information and just airing their frustrations and joys. 

This small circle started with five mothers. Once the Facebook parent support group was initiated by these parents, that circle rippled into the growing community of support seen today. After the inaugural family conference was held in Houston, TX, the seeds for the NR2F1 Foundation were planted.

Jennifer has a B.S. in Criminal Justice and an M.A. in Community Counseling. Jennifer and her family reside outside Philadelphia, PA.

Melissa became passionate about the mission of the NR2F1 foundation when her daughter Haley was diagnosed with BBSOAS in August of 2018 a few months before her second birthday. 

Haley had been a puzzle to multiple specialists with her combination of mild CVI, low muscle tone and developmental delays. The answers provided by genetic testing opened the opportunity to find a community and advocate together relentlessly for a cure.

Melissa has a B.A. from Ohio Wesleyan University and a Masters from the University of San Francisco. She works as an Account Executive for a global software company.

Jeff, Melissa, and Haley live near their amazing support system in Pittsburgh, PA.

Based in Houston, Texas (and previously London, UK), Tim is the proud father of two girls, Alice and Edith. In March 2022, Tim and his wife, Jennifer, received Edith’s BBSOAS diagnosis. In the midst of shock, sadness and fear, they were lucky enough to find the NR2F1 Foundation.

Tim’s motivation to join the board is twofold: first, to work to ensure that other BBSOAS impacted families find the same resources, support and information that helped them process Edith’s diagnosis and what it means for their family, and second, to support ongoing research efforts into understanding, and hopefully someday treating, BBSOAS and its symptoms.

Tim has a B.A. from Trinity College (Hartford, CT), a J.D. from Villanova University School of Law and an LL.M in International Banking & Finance from University College London.

Tim is currently Head of Low Carbon Power, Commercial & Business Development at ExxonMobil.

Nesrine is the loving and dedicated mum of Mathilde who was diagnosed with BBSOAS in January 2023 after years of medical tests and visits to multiple specialists. The genetician in the Paris Children's hospital informed Nesrine of Mathilde's diagnosis and handed her a piece of paper with the names of NR2F1 France and NR2F1 Foundation, the only 2 resources at the time.

After the shock of such a rare disease, Nesrine is committing all of her energy to raising awareness of BBSOAS worldwide. First by getting involved both in the NR2F1 France bureau and by creating an Instagram page for Mathilde to share tips on her multiple therapy sessions and to spread communication and activities about rare diseases, especially BBSOAS.

In April 2024, Nesrine and her family travelled all the way from Chartres (France) to Orlando (Florida) to attend in person the NR2F1 Foundation conference. As soon as she saw what was going on in terms of scientific research and the willingness of families affected by this rare condition to share and care, she decided to offer her help to the NR2F1 Foundation with all that is in her power.

Beyond the useful resources and support acquired through this global community, Nesrine found real family members who understand perfectly what her own family is going through. Since then, Nesrine has been involved in the ongoing NR2F1 Foundation. She is now excited to help grow the NR2F1 Foundation and serve the global BBSOAS community as a board member.

Nesrine holds an engineering degree from Supélec (France) and is pursuing her career in digital and technology strategy consulting along with taking care of her beloved husband Robin and daughter Mathilde. Her family currently lives in Boston, MA. Nesrine enjoys running, yoga, and meditation, reading a good book or watching a good movie in an effort to balance her every-day high-speed life.

Susie is a mom of two daughters, Gabriella Kamea, attending college at the University of Illinois, Urbana-Champaign (UIUC) and Siena, 16. Susie first became aware of BBSOAS after Siena received genetic testing in 2015.

At the time, they were told there were 15 other cases in the world. Siena always had very low muscle tone and vision problems, so it was a relief to finally have a diagnosis. A blog from another BBSOAS mom brought Susie to the Facebook group and the NR2F1 family. She has always been so impressed at the ways the community supports each other and gets so much done with what they have!

Susie has a B.A. in English Education from UIUC, but has been in the tech community for her entire career—first as a technical writer and for the past 18 years as a UX Designer. She has worked on software, web sites, apps, and kiosks at LexisNexis, IBM, Sears, BMW, Bank of America and is currently at JPMorgan Chase. She aspires to match Siena’s strong work ethic every day!

Candice was introduced to BBSOAS when her close friend Jen received a diagnosis for her daughter Edith. Shortly after, she met Edith and immediately fell in love. 

Inspired by Edith’s incredible spirit, Candice is wholeheartedly committed to raising awareness of BBSOAS. Her goal is not only to connect families with the support of the NR2F1 Foundation community, but also to advance research and bring us closer to treatments that improve the lives of individuals living with BBSOAS and their families. 

Candice had the privilege of meeting many families at the 2024 Scientific Conference, which deepened her connection to the cause and further solidified her dedication to the foundation’s mission.

Candice holds a BA in Spanish from Colgate University. She runs a Leadership Coaching and Talent Development practice based in Orlando, Florida, where she lives with her daughter, Hannah.

Kari is a wife, realtor, and mother of three children. Her most challenging, yet rewarding role is being the lucky mother of her 7-year-old son, Vincent. Vincent was diagnosed with BBSOAS at the young age of one.

That was the moment Kari knew life was going to be different for her and her family. Changing her mindset took time, patience, knowledge, and love. There was not enough information and not enough answers. 

Keeping Vincent and his siblings’ current life and future plans as a motivation, Kari has always wanted to get more involved and make a difference. Kari is thrilled to be part of the NR2F1 Foundation and help support, advocate, educate and progress the future of individuals and their families challenged with BBSOAS.

Born and raised in MN farm country, Kari holds a BA in Marketing and International Business from St. Cloud State University. After living in GA for over 12 years, she has become a Southern gal at heart. Kari and her family love being outdoors and staying active together. A favorite activity is swimming on those hot Atlanta days!

Kari looks forward to educating others about BBSOAS and changing the mindset of society to see the ability in these individuals and embrace their limitations.

Patrick first became involved with the NR2F1 Foundation after his niece, Edith, was diagnosed with BBSOAS. Seeing the support and sense of purpose the foundation provided to his brother, Tim, and sister-in-law, Jennifer, following Edith’s diagnosis drove home the critical work the foundation is doing. 

Patrick draws upon his experience as an attorney to advise the board and provide efficient strategies regarding how best to meet the foundation’s legal needs. Patrick is passionate about his work with the foundation because he believes in its mission of supporting BBSOAS families and funding research and because of his love for Edith, Tim, and Jennifer.

Patrick received his B.A. from Georgetown University and his J.D. from Seton Hall University School of Law. He is a Partner at the law firm of Coughlin Midlige & Garland LLP, and lives in New Jersey with his wife, Sarah, and his daughter, Sophia.

Amanda is a mom to her daughter, Ella, and her son, Jake, who has diagnosed with BBSOAS in December 2019. Jake had been missing more and more milestones, and after many months of early intervention followed by genetic testing, he received his diagnosis right before his 2^nd birthday.

Amanda immediately went into research mode and found the NR2F1 Facebook community of parents that shared her new life as a special needs mom. She became a volunteer for the Foundation in order to learn more about how to help her son, and transitioned to a board member in September 2025.

Amanda has a B.S. in Elementary Education from the University of Delaware and an M.A. as a Literacy Specialist from Teachers College, Columbia University. She was an elementary and middle school ELA teacher, and transitioned to a Literacy Specialist for grades K-5 in NYC before deciding to stay home with her children after moving to New Jersey.

Amanda now lives in Westfield, New Jersey, with her husband Craig, their two children, and their dog, Ollie.

Abi has been heavily involved in the 2025 Patient Count and Patient Registry projects.

“I’m currently studying at Kean University in the Genetic Counseling Graduate Program. I decided to volunteer with the NR2F1 foundation because I really wanted to find a way to get involved in advocacy. As a genetic counseling student, I have a lot of science background, but I wanted to enrich my experience more by meeting families and hearing their experiences in hopes to become a better provider in the future.” 

Great Aunt Cindy (NJ, USA) of BBSOAS Edith helps with maintaining our contact database.

“I wanted to get involved and help relieve some of the admin the board members have, so they can focus on the ‘important’ stuff of finding treatment.”

BBSOAS Ardyn’s Mom, Heather (MN, USA) has been supporting us since the inception of the parent Facebook group. She is also part of the ‘original 5’ who got together before the Foundation even existed!

“I work mostly full time in insurance, but in my free time I like doing puzzles, reading, and going for walks. I am the mom of a BBSOAS teenager, Ardyn.”

Jarno at King & Spalding LLP generously provides pro-bono legal advice to the Foundation.

“I hope that the time I spend with the Foundation plays a role in increasing valuable genetic research to support BBSOAS families.”

“My son, Dawson, was diagnosed 4 years ago. After organizing a walk raising funds for the NR2F1 Foundation, I knew I wanted to continue this journey getting involved in the BBSOAS community.”

He volunteers his time and skills for causes he believes in, driven by a deeply personal history and a strong commitment to social justice, community, and education.

Originally from Caracas, Venezuela, and based in London, United Kingdom, for the last 13 years.

His background as a software engineer and educator, with the help of Jess & Anita, made this website possible.

Professor and Chair of Human Genetics at Heidelberg University, and Medical Director of Human Genetics at the University Hospital of Heidelberg. Visiting Assistant Professor, Department of Molecular and Human Genetics, Baylor College of Medicine.

Christian is a physician-scientist who wants to understand how genes influence human cognition and behavior. His laboratory at the University of Heidelberg is dedicated to investigating the genetic basis of neurodevelopmental and neuropsychiatric disorders. Christian’s focus is translational research. All of his research projects relate to the patients he encounters in the clinic. 

Christian is a solver of medical mysteries. By treating each patient with respect and curiosity, he has not only made a real difference in affected individuals’ lives, but also made seminal discoveries in the field of neuropsychiatric disease research. He reported the first six individuals with NR2F1 mutations in 2013. Since then, he has contributed to a deeper understanding of the genetics, the clinical features, and the molecular pathways that play a role in what is now known as “Bosch-Boonstra-Schaaf Optic Atrophy Syndrome”. Christian and his team take a multi-faceted approach, including basic biochemical and cell biological studies, animal models, and clinical trials for human patients.

Christian is also a writer and an educator. He has authored several textbooks, including “Human Genetics – From Molecules to Medicine”, prefaced by a foreword written by Nobel laureate James Watson. Most importantly, Christian is an advocate. An advocate for those affected by neurodevelopmental and neuropsychiatric diseases. Whether he makes a difference for 10 individuals or 10 million – his work is aimed at understanding the causes of the disease, empowering affected individuals, and improving quality of life.

Henning studied biology with a focus on zoology and physiology and completed his doctorate in January 2008 at the Max-Planck-Institute for Heart and Lung Research in Bad Nauheim on the physiological role of the ion transporters Slc5a8 and Slc4a11. 

He then worked as a postdoctoral researcher at the European Molecular Biology Laboratory (EMBL) in Heidelberg and at the Institute of Physiology in Tübingen. Since 2011, he has been employed as a scientist at the Institute of Human Genetics, where he leads a group investigating certain neurodevelopmental disorders (FOXP1 syndrome, Schaaf-Yang syndrome (SYS) and Bosch-Boonstra-Schaaf syndrome (BBSOAS) using specific mouse models.

His research aims to better understand the effects of the underlying genetic defects on brain development and function at the molecular level and how these disorders ultimately affect cognition and behavior. Since 2019, he has been working with Prof. Schaaf on researching BBSOAS and supervising the work of doctoral students studying this disorder in mouse models.

Jane Edmond, is one of just 25 pediatric neuro-ophthalmologists in the USA. She is Director of the Mitchel & Shannon Wong Eye Institute and Professor and Inaugural Chair of the Department of Ophthalmology at Dell Medical School at the University of Texas at Austin. She is currently president of the American Association for Pediatric Ophthalmology and Strabismus.

Our whole team has met with dozens of families affected by NR2F1 mutations. Internationally renowned in their respective disciplines of genetics and ophthalmology, they are uniquely able to integrate perspectives and attract resources from both fields. They value collaboration with other researchers, and with patients and families. They are committed to advancing research to improve patients’ lives.

Michèle is a researcher in the field of developmental biology, interested in the processes of mammalian brain growth and differentiation. She has worked in the UK, US, Italy, and finally in Nice, France, where she has been running an Inserm team since 2009. 

While searching for genes involved in brain formation, she came across NR2F1 and never let it go. Its primordial role in the early stages of cerebral cortex development makes it both mysterious and essential, and it never ceases to surprise her with its thousand facets as it unfolds on a journey of discovery and rediscovery. 

Her scientific publications on the role of Nr2f1 in mice have contributed to a better understanding of human pathology. Today, her team is trying to decipher the contribution of mutations identified in patients to the pathophysiological mechanisms of this rare genetic disease. With the help of researchers, clinicians, geneticists, and above all patients and their families, her aim is to advance research into this disease and improve the care and well-being of our young patients.

Sarah is a postdoctoral fellow at COMBINEDBrain, a consortium of patient advocacy groups for rare genetic neurodevelopmental disorders. Sarah received her PhD in neuroscience from Vanderbilt University. 

Working in the lab of Dr. Katty Kang, Sarah’s research focused on the cellular mechanisms of genetic childhood epilepsies, such as Dravet syndrome. She investigated how protein degradation pathways like autophagy and the ubiquitin-proteasome system are involved in genetic epilepsy, and how to leverage these pathways for novel therapeutic approaches.

She has also worked extensively on projects involving SLC6A1-mediated neurodevelopmental disorders, including preclinical research on 4-phenylbutyrate (PBA). Prior to Vanderbilt, Sarah earned her bachelor’s degree in neuroscience and biochemistry from the University of Miami in 2015.

Silvia is an Associate Professor at the University of Turin, Italy, and a neurobiologist fascinated by how the brain develops and adapts throughout life. Together with her team, she studies adult brain plasticity using mouse models to explore how new neurons are generated and integrated into circuits that support learning, memory, and behavior.

Her interest in NR2F1 emerged from her search for developmental transcription factors that continue to function after birth and into adulthood. Although NR2F1 is essential for early brain formation, it remains expressed later in life, including in the mature brain. This led to a central question: what role does NR2F1 play in the postnatal brain, and how does it influence neuronal plasticity? To address this question, her group investigated NR2F1 in adult neurogenic niches and, more recently, in the context of BBSOAS. Their work revealed that NR2F1 deficiency alters mechanisms of neuronal plasticity and mitochondrial function, providing new insights into how mutations in this gene may affect brain function throughout life.

Building on these findings in animal models, her team — in close collaboration with Michèle Studer’s team — is now validating and extending the results using human in vitro models, with the aim of translating mechanistic discoveries into a better understanding of disease processes. Through collaborative and translational research, Silvia and her team aim to advance knowledge of NR2F1-related disorders and contribute to the development of improved therapeutic strategies for BBSOAS.

Dr. Shah earned his undergraduate degree at the University of Pittsburgh. He received his medical degree and Ph.D. from the University Of Pittsburgh School Of Medicine. He completed his Ophthalmology residency at the University of Pittsburgh Medical Center (UPMC) Eye and Ear Institute. 

He completed two Ophthalmology fellowships in Neuro-Ophthalmology at the University of Miami/Bascom-Palmer Eye Institute in Florida, and a Pediatric-Ophthalmology at The Children’s Hospital of Philadelphia in Pennsylvania. He practiced 5 years at Texas Children’s Hospital, Baylor College of Medicine, and MD Anderson prior to joining Cincinnati Children’s Hospital/University of Cincinnati in 2020.

Dr. Shah is a pediatric and adult neuro-ophthalmologist with clinical interests that include demyelinating diseases, nystagmus, eye movement abnormalities, cranial nerve palsies, optic nerve hypoplasia, craniofacial diseases, intracranial tumors, optic neuropathy, complex strabismus, and ocular genetics/electrophysiology.

His clinical and basic research interests include molecular genetics of optic nerve protection/development and neuro-oncology.

Dr. Clarence Yap has over 20 years' experience in the biotechnology industry in program team leadership, drug development strategy, and alliance collaborations.

He spent 13 years at BioMarin where he led programs for rare diseases before moving on to lead drug development programs at Sangamo Therapeutics, AavantiBio, Lyell Immunopharma and Pliant Therapeutics. He started his career as a management consultant at McKinsey & Company.

He is passionate about advancing therapies for diseases with high unmet medical needs, which is why he is motivated to get involved with the NR2F1 Foundation. He received his M.D. in the accelerated Honors Program in Medical Education, B.S. in biomedical engineering and M.P.H. from Northwestern University.

Dr. Chavan is a physician-scientist executive with extensive experience in pharma, biotech, and CRO leadership. He specializes in patient-centric innovation, product development from early to late phases, and life-cycle management.

With a strong track record in business development, due diligence, and integration, he brings deep expertise across immunology, oncology, neurology, and transplantation.

Dr Chavan is currently focused on investing, consulting and mentoring start-up founders to solve healthcare's critical problems. “I am excited to support the NR2F1 gene-related product development and clinical strategy."

Jodie brings over 30 years of leadership experience in strategy, innovation, and clinical trial operations across the life sciences industry. As the Co-Founder and COO of PatientX, she is widely recognized for her ability to design and deliver disruptive, patient-centric solutions that drive meaningful advances in clinical research and improve outcomes.

Prior to PatientX, Jodie served as Senior Managing Director and Head of Clinical Solutions at Press Ganey, where she led groundbreaking efforts to integrate patient experience measurement into clinical trials—addressing a critical and long-overlooked gap in the industry. Her leadership track record also includes senior roles at prominent organizations such as Worldwide Clinical Trials, ICON, IQVIA, and CVS Health.

“I am excited to be part of this important work to help others, like me, who are in need of effective treatments, and to accelerate research innovations for this population.”