Our mission

The Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders is devoted to speeding the path to clinical treatments for people with severe rare genetic non-verbal neurodevelopmental disorders by pooling efforts, studies and data.

Our Structure

We are a non-profit consortium led by patient advocacy foundations, working with the clinicians, researchers and pharmaceutical firms that are developing treatments for the disorders they represent.

Our Team

Dr. Terry Jo Bichell, PhD, MPH
Executive Director
Terry Jo Bichell worked as a documentary filmmaker in the early days of videotape, then became a public health nurse-midwife after filming a difficult birth in West Africa. When her youngest child, Lou, was diagnosed with Angelman syndrome, she switched from midwifery to clinical research on Angelman syndrome. Eventually, she went back to school to earn a PhD in neuroscience from Vanderbilt University in an effort to find treatments for her son. Along the way, she studied gene-environment interactions in Huntington disease as well as circadian aspects of Angelman syndrome and was a columnist for HDBuzz. After graduating, she was the Founding Director of the Angelman Biomarkers and Outcome Measures Alliance until 2018. Dr. Bichell founded a new non-profit in 2019, COMBINEDBrain (Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders), to assist other rare and ultra-rare neurogenetic disorders with clinical trial preparations.
Kristin Hatcher
Deputy Director
Kristin has spent her entire career advocating for children. She has both her undergraduate and graduate degrees in Education. With a heart for underserved communities, she committed herself to educating children in one of Tennessee’s most distressed schools for almost a decade. Noticing the gap between the educational system, the families, and her beloved students, she sought a new avenue to ensure this did not happen again. She successfully launched a subsidiary of the educational Non-Profit, “Communities In Schools” in a rural town, concentrating on building sustainable relationships between the community, schools, and children. With a penchant for organization and a passion for those who need a voice, she felt that COMBINEDBrain was the perfect match. As a patient of a rare disorder, she understands the urgent need for cure for the precious children that COMBINEDBrain serves.
Jessica McGath
Jessica Mcgath
Communication Specialist
Jessica is the Communication Specialist for COMBINEDBrain. She grew up in Illinois and graduated from Eastern Illinois University with a Bachelor’s degree in Organizational and Professional Development. She is new to the nonprofit world but has been inspired by Terry Jo and her team to spread the knowledge and strength of the rare disease community via social media. When she’s not tweeting, she can be found playing with her three dogs.
Brittany Short, MSCLI
Team Member, Science Advisor

Brittany has a background in neuroscience, specifically pediatric neurology, where she has spent over nine years studying the biochemical pathway dysfunctions that influence epilepsy in the brain. She has enjoyed the opportunity to learn, work, and collaborate with a team composed of some of the top pediatric neurologists in the world. She practices translational science in a research laboratory setting, where she works on specific genetic mutations that cause encephalopathies that contribute to epilepsy in pediatric patients. Brittany is truly passionate about what she does and continues to be committed to professional and personal growth.

Brittany holds a Master of Science degree in clinical and laboratory investigation from Vanderbilt University School of Medicine with concentrations in neuroscience and immunology. As a Nashville native, she enjoys contributing to her community through local outreach organizations, including Hands on Nashville and the YMCA’s youth and community advocacy programs (YCAP). Brittany also serves as a mentor at schools in lower income areas.

Outside of work and volunteering, Brittany enjoys spending time with her dog Max, husband Brock, friends, and family, painting, hiking, and birdwatching.

Brain Trust

Dr. Terry Jo Bichell, PhD, MPH
Senior Consultant
Terry Jo Bichell worked as a documentary filmmaker in the early days of videotape, then became a public health nurse-midwife after filming a difficult birth in West Africa. When her youngest child, Lou, was diagnosed with Angelman syndrome, she switched from midwifery to clinical research on Angelman syndrome. Eventually, she went back to school to earn a PhD in neuroscience from Vanderbilt University in an effort to find treatments for her son. Along the way, she studied gene-environment interactions in Huntington disease as well as circadian aspects of Angelman syndrome and was a columnist for HDBuzz. After graduating, she was the Founding Director of the Angelman Biomarkers and Outcome Measures Alliance until 2018. Dr. Bichell founded a new non-profit in 2019, COMBINEDBrain (Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders), to assist other rare and ultra-rare neurogenetic disorders with clinical trial preparations.
Dr. Anna Pfalzer
Dr. Anna Pfalzer
Advisor
I am a Research Assistant Professor in the Department of Neurology at Vanderbilt University Medical Center. My research focuses on identifying early molecular biomarkers of pathology in neurodegenerative diseases, specifically Huntington Disease (HD). To this end, I am currently working to develop a research program that examines the intersection between neurodevelopment and neurodegeneration in Huntington’s Disease with the primary goal to develop effective disease modifying therapies. My work utilizes in vivo and in vitro models of HD as well as clinical research studies to generate a proteomic profile of the earliest molecular changes in HD and to design experiments using our basic research models to investigate the potential for novel proteins identified in our proteomic screen to modify mutant Huntingtin pathology and disease manifestation. Within COMBINEDBrain, I use my expertise in basic research models of neurological diseases to identify and validate novel biochemical markers of neurodevelopmental outcome measures.
Dr. Kyle J Horning
Dr. Kyle J. Horning
Post-Doctoral Fellow
Kyle J. Horning received his bachelor’s degree in neuroscience in 2010 from Drew University. He continued his training in neuroscience as a research technician at the Maryland Psychiatric Research Center until 2013, where he began graduate school at Vanderbilt University. At Vanderbilt, he received additional training in toxicology and bioinformatics while studying gene and environmental interactions in the context of Huntington’s disease for his dissertation. He received his PhD from Vanderbilt in neuroscience in 2020. In January 2021, Dr. Horning joined COMBINEDBrain as a postdoctoral science officer.
Sarah Poliquin
Graduate Student Intern
Sarah received her bachelor’s degree in neuroscience and biochemistry from the University of Miami in 2015, and then began a doctoral degree in neuroscience at Vanderbilt University. Working in the lab of Dr. Katty Kang, Sarah’s research focuses on the cellular mechanisms of genetic childhood epilepsies, such as Dravet syndrome. She has also worked extensively on projects involving SLC6A1-mediated neurodevelopmental disorders. When not in the lab, Sarah can be found in the gym, at the dance studio, or in her garden.

Officers

Dr. Terry Jo Bichell, PhD, MPH
Chairman of Board, COMBINEDBrain
Terry Jo Bichell worked as a documentary filmmaker in the early days of videotape, then became a public health nurse-midwife after filming a difficult birth in West Africa. When her youngest child, Lou, was diagnosed with Angelman syndrome, she switched from midwifery to clinical research on Angelman syndrome. Eventually, she went back to school to earn a PhD in neuroscience from Vanderbilt University in an effort to find treatments for her son. Along the way, she studied gene-environment interactions in Huntington disease as well as circadian aspects of Angelman syndrome and was a columnist for HDBuzz. After graduating, she was the Founding Director of the Angelman Biomarkers and Outcome Measures Alliance until 2018. Dr. Bichell founded a new non-profit in 2019, COMBINEDBrain (Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders), to assist other rare and ultra-rare neurogenetic disorders with clinical trial preparations.
Amber Freed
Vice Chair, COMBINEDBrain
SLC6A1 Connect

Amber N. Freed is Fighting Like a Mother to cure SLC6A1.

Mark and Amber Freed are the parents of adorable twins, Miss Riley James and Mr. Maxwell Norman. Maxwell was 18 months old when the Freed family received his devastating diagnosis of SLC6A1. Ms. Freed left her career in equity analysis the day Maxwell was diagnosed and dedicated her life to finding a cure. In 18 months, Amber has single-handedly driven multiple translational treatments forward and become a leader within the rare disease community.

Ms. Freed serves as the Founder and CEO of SLC6A1 Connect. SLC6A1 Connect’s work has elevated awareness and created an ecosystem that can systematically help fund and consolidate research and treatment efforts. Her efforts have been highlighted in the Huffington Post, Buzzfeed, Bloomberg, CNBC and many more.

Ms. Freed was featured in the best-selling book, Shortcut to Prosperity, as an example of grit well before her skills were put to the ultimate test. Prior to Founding SLC6A1 Connect, Ms. Freed served in a variety of equity and financial analysis roles, most recently in consumer equity research with Janus Henderson Investors. Prior to Janus, Ms. Freed was a Vice President with Stout, Risius & Ross in Houston, Texas, focusing on private company and personal valuations. Ms. Freed has also served in roles with RK Capital Management, Dividend Capital Trust, and KPMG LLP. Ms. Freed attended the University of Denver for both undergraduate and graduate school, receiving degrees in Accounting on an academic scholarship.

She was nominated for the Global Genes Rare Champion of Hope Award, is a member of the Rare Advocacy Movement and sits on the Board of CombinedBrain. Amber can be reached at any hour of the day to advance science.

Geraldine Bliss
Secretary/Treasurer, COMBINEDBrain
CureSHANK
Geraldine’s son, Charles, has Phelan-McDermid Syndrome, caused by a partial deletion of the SHANK3 gene. His severe form of epilepsy, Lennox Gastaut Syndrome, has had a devastating impact. CureSHANK was born from her promise to Charles to help him get better.

board of directors

Sandra Sermone
ADNP Kids Research Foundation
Sandra founded ADNPkids.com in 2015 after her son was the first child diagnosed in the US, 11th in the world with ADNP. At the same time she created the worlds only ADNP parent support group on Facebook, where families could connect, share information and no long feel alone. This ADNP family tribe has brought together families from across the globe to build a strong ADNP community. Little science or research existed in 2015 so Sandra began her own independent research projects. She then founded the ADNP Kids Research Foundation in 2016 to accelerate research and find cures for all children living with ADNP and those that will follow. She acts as the President, CEO and Primary Investigator for the ADNP Contact Registry.Sandra discovered the first biomarker for ADNP Syndrome and co-discovered the first viable drug treatment for her son and others with ADNP Syndrome. The Phase 2 FDA study was fully funded through the ADNP Kids Research Foundation and to date, is believed to be the first rare disease in US history to start an FDA drug trial using artificial intelligence.Some of her co-authored scientific publications have been published in Nature Translational Psychiatry, The Journal of Molecular Neuroscience and Frontiers in Endocrinology.
Geraldine Bliss
CureSHANK
Geraldine’s son, Charles, has Phelan-McDermid Syndrome, caused by a partial deletion of the SHANK3 gene. His severe form of epilepsy, Lennox Gastaut Syndrome, has had a devastating impact. CureSHANK was born from her promise to Charles to help him get better.
Lisa Manaster
CACNA1A Foundation
Lisa Manaster is eager to help build awareness and accelerate the discovery of treatments for CACNA1A. She lives in Connecticut and has three children and one soon to be daughter-in-law. After years of genetic testing, her youngest daughter, Emily, finally received a diagnosis of CACNA1A in 2016 at the age of 19. While Lisa does not believe earlier identification would have changed their path, supporting research for a cure has become her passion. Lisa has worked as both an advocate and a special educator. She received interdisciplinary leadership training in the field of developmental disabilities as a Fellow in the Leadership Education in Neurodevelopmental and Related Disabilities (LEND) program at the Westchester Institute for Human Development. Lisa has a Bachelor of Arts in History from Cornell University and an MA from Teachers College, Columbia University. She is excited to be a founding partner of the CACNA1A Foundation and improve the lives of those affected with CACNA1A.
Jeff D'Angelo
CHAMP1 Foundation
Jeff D’Angelo is the Proud father of JJ. Since day one of his son’s birth he has been committed to giving him the best possible chance to succeed. After receiving a diagnosis of CHAMP1 Its been his life’s mission to fuel research in hopes for a cure and of a better life. In addition to co-founding the CHAMP1 Research Foundation, Jeff has served as a teacher, basketball coach and special needs ministry leader at his church. Jeff is a loving father and husband who is motivated daily by his son to do all he can to advocate, spread awareness, further research. You can follow more of JJs story and read blogs from Jeff at www.raisingachamp.com
Keith McArthur
CureGRIN Foundation, CEO & Head of Science
Keith brings a wealth of senior leadership experience to his role, in business and the non-profit sector. He is a published author and podcaster, and previously a newspaper reporter. His son, Bryson, was diagnosed with a GRIN gene disorder in 2015. In 2018, Keith and his wife, Laura, created a GRIN family conference and invited some of the world’s top researchers. The message he heard from the researchers – that a cure for GRIN Disorder is possible – led Keith to commit his life to finding a cure. Since then, he has been connecting with researchers around the world to drive GRIN research.
Leah Schutz Myers
FamilieSCN2A Foundation
Leah has spent her entire career working in health care administration and never imagined she would find a use for her skills in an entirely different way. From medical secretary to hospital manager and everywhere in between, Leah learned how to manage the needs of large populations within a medical setting. When her son, Ben, was diagnosed with an SCN2A Disorder in 2012, it became abundantly clear how to leverage her 20+ years of experience to help not only her family, but hundreds of others. In July of 2019, Leah transitioned from her volunteer position as President of the Foundation Board, to a full time Executive Director role. The experience she brings with her, especially from her most recent position as Executive Project Manager for a fortune 500 Healthcare company, is giving the foundation the professional edge to meet the growing needs of the community. Communication and collaboration being her area of expertise, Leah has been instrumental in forming relationships with clinicians and scientists to advance progress in studying SCN2A and novel treatments. These alliances with researchers and industry leaders have been influential in catapulting SCN2A on to the map of exciting targets to study.
Bo Bigelow
Foundation for Hao-Fountain Syndrome

Bo is a writer, author, and attorney. He became a rare-disease advocate when his daughter Tess was born with a USP7 mutation. ​​When genetic testing reached a dead end for Tess, Bo and his wife successfully used social media to launch their search for answers and connect with researchers at Baylor College of Medicine. He made a short film about their search. Click Here To Watch

He hosts a blog and weekly podcast called Stronger Every Day, about the challenges of raising Tess. He is also a co-founder of Disorder: The Rare Disease Film Festival. Bo holds a B.S. from Georgetown University and a law degree from New York University School of Law. He is of counsel to Murray, Plumb & Murray, a law firm in Portland, Maine.

Nasha Fitter
FOXG1 Research Foundation
Nasha Fitter co-founded the FOXG1 Research Foundation shortly after her daughter Amara was diagnosed with FOXG1 syndrome. She is dedicated to leading our research strategy to find a cure for every child in the world who has FOXG1 syndrome. Nasha heads the rare and neurological disease division for Ciitizen, a technology company that enables fast and seamless access to patient data. She is also on the public board of the ACMG Foundation for Genetic and Genomic Medicine. Formerly, Nasha was the founder and CEO of tech startup Schoolie, which was acquired in 2016 by GreatSchools, as well as a Director at Microsoft Corp. Nasha has an MBA from the Harvard Business School.
Melissa Gamble
Global Foundation for Peroxisomal Disorders
After learning that her daughter, Ginny, was diagnosed with a Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder (PBD-ZSD), Melissa Bryce Gamble set out to find other parents facing a similar fate. What she found was a small community of parents corresponding via email and supporting one another as they navigated a lonely diagnosis. Melissa’s desire to raise funds for research, support families and promote awareness of PBD-ZSD led to the formation of the Global Foundation for Peroxisomal Disorders (GFPD) in October of 2010. Melissa served as Treasurer of the GFPD from 2010-2015. She served as President of the GFPD from 2015-2017, overseeing GFPD staff and volunteers in Tulsa, Oklahoma. She now serves as the Executive Director. Her daughter, Ginny, passed away April 25, 2015, at the age of 6 1/2 from the degenerative effects of PBD-ZSD after a long and valiant battle. Melissa is also a mother to Jack and Avery. Along with her husband, Brant, Melissa strives to honor Ginny's memory through her work with The GFPD and as an advocate for children and adults facing rare diseases.
Glenna Steele
Glut1 Deficiency Foundation
Glenna holds a BS and MED in Education from Eastern Kentucky University. She has spent 15 years teaching public school kindergarten and first grade in Florida and Kentucky. She has been a volunteer with the Epilepsy Foundation of Kentuckiana and Kentucky Special Olympics. Glenna was a founding board member, first President, and first Education Director of the Glut1 Deficiency Foundation. She lives in Owingsville, Kentucky with her husband, John, and their daughters, Macie and Maggie. Macie was diagnosed with Glut1 Deficiency in 2008 at the age of 10.
Liz Marfia-Ash
GRIN2B Foundation

When Liz’s daughter, Lucy, was diagnosed with a GRIN2B variation in 2014, she was given a stack of scholarly neurological articles and case studies on others with GRIN2B, which might as well have been written in a foreign language. Frustrated by the lack of information for families, she vowed to never let that happen to anyone else. Inspired by the connections made in the GRIN2B Parent Support Group on Facebook, Liz wrote and published www.grin2b.com in 2017 as a way to help give families accessible information regarding GRIN2B. Later that same year, her journey into nonprofit work continued, and she founded and received 501c3 status for the GRIN2B Foundation. Understanding full well how lonely and overwhelming it is for families to deal with such a rare diagnosis, Liz is determined to be a voice of positivity in the GRIN2B community. She is very passionate about supporting both the well-being of families and working with the medical community to better understand and treat GRIN2B. Liz also serves on the board for Combined Brain and on the Simons Searchlight Community Advisory Committee.

In addition to her duties as President, Liz works as a Project Manager for a small marketing firm in Chicago. She loves Pilates, reading, writing, making lists and watching movies and Netflix. Her dream is to someday write a Children’s book. She lives in the Chicago suburbs with her husband and three children.

Read Liz’s Rare Leader profile from Global Genes.

Gabi Conecker
International SCN8A Alliance
President and Co-founder of the International SCN8A Alliance, founder and President of Wishes for Elliott, dedicated since 2014 to advancing SCN8A research Gabi is mom to Elliott, now 8 years old, who struggles with one of the most severe strains of SCN8A mutations. Gabi founded Wishes for Elliott to fight for better treatment and research even before Elliott was diagnosed with SCN8A at 15 months. At diagnosis, the family received the one published article on SCN8A in children offering little to no guidance on care, treatment, or prognosis. Even though she was still working full time building maternal/child health programs in sub-Saharan Africa and caring for a severely medically fragile child, she was inspired to bring the passion and urgency of SCN8a families to the nascent but growing community of SCN8A researchers and clinicians – and do everything possible to improve understanding for better treatment and outcomes for all SCN8A children. View a video about the decision to launch Wishes for Elliott.
Kathryn Atchley
KIF1A.org
Kathryn Atchley is President of KIF1A.ORG and got involved in the rare disease community after her son Parker was diagnosed with KIF1A Associated Neurological Disorder in 2017. Before joining KIF1A.ORG, Kathryn spent six years at the headquarters of an international not-for-profit organization, working in both development and program areas. Her experience with nonprofit management and community building efforts includes multistakeholder engagement, human-centered design principles, communications, patient advocacy, grant writing and grantmaking. Kathryn is passionate about the power of collaboration. By empowering patients, families, scientists, clinicians, and advocates to work together, we can accelerate and scale progress toward better care and treatments for rare disease. At KIF1A.ORG, Kathryn has led the growth of the KAND community, a portfolio of funded translational research projects and collaborations with industry partners to expedite the path to KAND treatment. None of this would be possible without the relentless, unified KAND community working together to achieve KIF1A.ORG’s mission.
Dr. Christal Delagrammatikas
Malan Syndrome Foundation
Christal has a Bachelor of Science in Biochemistry from Virginia Tech and a PhD in Pharmacology from the University of Michigan. Her doctoral studies investigated the role of different neurotransmitters in the regulation of rapid eye movement (REM) sleep; and her postdoctoral research at Weill Cornell Medical College of Cornell University explored brain pathways contributing to sleep apnea-induced hypertension. She continued on at Weill Cornell Medical College as an Assistant Professor of Neuroscience. Christal is now a full-time caregiver and lives with her husband and two sons in North Carolina. Her oldest son, Yanni, was diagnosed with Malan syndrome in February of 2018. Christal has used her academic training to learn as much as she can about the syndrome and is passionate about driving research forward so that we can gain a better understanding of this complex rare disorder. As a member of the Board, she is committed to the mission of the foundation and is determined to help change the course of the lives of those affected by NFIX genetic changes.
Carlie Monnier
NR2F1 Foundation
A single phone call with the news that their first-born daughter, Sidelle had a rare NR2F1 gene mutation changed everything. Overnight, Carlie and her family began to forge a new path, one laden with more questions than answers. Over time, Carlie learned they were not alone. Through the internet and then a conference, she met other families across the country affected by an NR2F1 mutation. By connecting with other families many questions turned to answers and through the power of parent advocacy, the NR2F1 Foundation was born. Carlie wants all NR2F1 families whose lives have changed overnight to know they are not alone. They are surrounded by other resilient families and supported by a foundation whose mission is to empower all those touched by an NR2F1 mutation. Carlie has a B.S. in Special Education, M.S. in Counseling. Most recently, Carlie worked at EPU Children’s Center as a Resource Specialist serving parents of children living with disabilities and then directed a parent leadership group for disability advocacy through storytelling and public speaking. Carlie lives in Fresno, CA with her two daughters and her husband Jeff. She needs hot yoga, a good book, and thrift store shopping to maintain sanity.
Andrew Longenecker
PBD Project
Bina Shah
Project 8p Foundation
In 2018, Bina founded Project 8p Foundation to accelerate research with the goal of treatment for chromosome 8p heroes like her daughter Karina. Since then, she has fully committed herself to the advancement of clinical and research understanding of rare disorders, in particular neurodevelopmental chromosomal disorders such as the 8p rearrangements. Shifting perspectives from disease specific efforts to innovative approaches that are gene-agnostic and cross disorder is a long term scalable vision of hers. As a result, she is the founding partner of the Commission on Novel Technologies for Neurodevelopmental Copy Number Variants (CNVs). Her family resides in New York City where Bina earned her B.S. in Finance & Marketing from NYU Stern Business School as well as her M.B.A. from Columbia University. She has over 15 years of experience in finance in the areas of mergers and acquisitions, private and public equity investing, real estate development, and property management. Bina leverages her business and entrepreneurial background and network to build bridges to improve efficiencies in a Collaborative Impact model for Team Science.
Dr. Kim Stephens
Project Alive
Kim first heard of Hunter Syndrome when her son Cole was diagnosed in 2012 at two and half years old. Since that time, she has been focused on finding a cure for this disease. She frequently speaks as a rare disease advocate at conferences and events and serves as a mentor and resource for newly-diagnosed families. Kim previously worked in the non-profit space as Director of Fundraising for the National Multiple Sclerosis Society. Prior to that she worked for IBM for 20 years in communications, product development for the IBM Accessibility Center, and most recently as the Diversity and Inclusion Communications and Education leader. She is the founder of Inclusive Thinking – a consulting company dedicated to increasing diversity and inclusion through research, education, and strategic planning. In addition, Kim is an Associate Professor at Lincoln Memorial University teaching management and leadership in the MBA program. Kim received her Doctorate in Business from Georgia State University and focused her dissertation on implicit bias and the role of transformational conversation and social identity on behavioral change. Kim received her Master of Arts in Professional Communication from Clemson University and her Bachelor of Arts in English from the University of Tennessee. Kim lives in Knoxville, Tennessee with her husband Jeff, her older son Connor, Cole and a dog named Rosie. She enjoys running, swimming, cycling and playing outside with her boys.
Allison Kaczenski
SATB2 Gene Foundation
Allison Kaczenski graduated from the College of Charleston with a BA in Arts Management where the study of focus was nonprofit management. Mrs. Kaczenski has spent her entire 20+ year career working in the nonprofit field of fundraising, donor relations, and event planning with various nonprofits such as the Atlanta History Center, Zoo Atlanta, Special Olympics Georgia, and most recently for Emory University. As a mother of a daughter with SATB2-associated syndrome, she wanted to help others who receive this diagnosis receive the proper support they need as well as further support research and awareness.
Nuala Summerfield
Schinzel-Giedion Syndrome Foundation
My daughter Ophelia was born in 2011 after an uneventful pregnancy and birth. However she suffered a respiratory arrest just minutes after birth and spent several weeks in a neonatal intensive care unit at a central London teaching hospital, baffling all the specialist doctors as to what was wrong with her. Once she was well enough to come home, life was a constant roller coaster of emotions, hospital visits and tests. Ophelia developed seizures at the age of 9 months old and it was this that led to her being diagnosed with Schinzel-Giedion Syndrome by a clinical geneticist who had trained with Professor Albert Schinzel (who first described the condition in in 1978). What are the chances of that! Ophelia is our only child. She is now 9 years old and lives with myself and her father (and our 2 dogs and a cat) in West Sussex, UK. She continues to have daily seizures as well as suffering from many of the typical Schinzel-Giedion Syndrome symptoms such as severe neurodevelopmental delay, bladder problems and feeding problems. However, she is a wonderful, happy, sociable little girl who loves spending time with family and friends, enjoys going to school and loves nothing better than swimming and warm baths! She truly loves life and she is our daily inspiration. I have been a practicing veterinary surgeon for over 20 years and have been involved in both clinical practice and in clinical research studies. I understand the need to practice evidence-based medicine founded on scientifically rigorous studies, but as a parent of a child with a severe life-limiting genetic condition, I also understand the desperation of parents to have research move more quickly from the laboratory to the clinic, where it can have a meaningful quality-of-life impact on our children. This was the driving force that led to the decision to establish The Schinzel-Giedion Syndrome Foundation in 2019 and I have been extremely fortunate to have been joined by such wonderful fellow parent Trustees in this endeavour. As a new rare-disease organisation, with an important role of being the only charity representing the international Schinzel-Giedion Syndrome community, we have developed a well-defined strategic research plan with help from our Scientific and Medical Advisory Board, to ensure that we achieve our goal of accelerating the development of effective therapies for our amazing children.
Haley Oyler
SETBP1 Society
In January 2016, Haley was relieved to finally have a diagnosis for her son who suffered many delays and challenges. But with that relief in a diagnosis, there was also heartache from the limited amount of information and lack of resources and guidance available. Her passion to help not only her son but all those affected by SETBP1 disorder led her on a journey to help find therapies and treatments to improve their quality of life. With the support of her family, friends, and the growing community of families affected by SETBP1 differences, she founded SETBP1 Society. Haley graduated from the University of Texas with a bachelors in mathematics. She draws on her previous experience working in product management, project management, research, and sales, as well as her commitment to her son to help SETBP1 Society reach its fundraising and research goals. She feels fortunate to be working on behalf of all families affected by SETBP1 disorder at home while caring for her own family in Austin, TX.
Amber Freed
SLC6A1 Connect

Amber N. Freed is Fighting Like a Mother to cure SLC6A1.

Mark and Amber Freed are the parents of adorable twins, Miss Riley James and Mr. Maxwell Norman. Maxwell was 18 months old when the Freed family received his devastating diagnosis of SLC6A1. Ms. Freed left her career in equity analysis the day Maxwell was diagnosed and dedicated her life to finding a cure. In 18 months, Amber has single-handedly driven multiple translational treatments forward and become a leader within the rare disease community.

Ms. Freed serves as the Founder and CEO of SLC6A1 Connect. SLC6A1 Connect’s work has elevated awareness and created an ecosystem that can systematically help fund and consolidate research and treatment efforts. Her efforts have been highlighted in the Huffington Post, Buzzfeed, Bloomberg, CNBC and many more.

Ms. Freed was featured in the best-selling book, Shortcut to Prosperity, as an example of grit well before her skills were put to the ultimate test. Prior to Founding SLC6A1 Connect, Ms. Freed served in a variety of equity and financial analysis roles, most recently in consumer equity research with Janus Henderson Investors. Prior to Janus, Ms. Freed was a Vice President with Stout, Risius & Ross in Houston, Texas, focusing on private company and personal valuations. Ms. Freed has also served in roles with RK Capital Management, Dividend Capital Trust, and KPMG LLP. Ms. Freed attended the University of Denver for both undergraduate and graduate school, receiving degrees in Accounting on an academic scholarship.

She was nominated for the Global Genes Rare Champion of Hope Award, is a member of the Rare Advocacy Movement and sits on the Board of CombinedBrain. Amber can be reached at any hour of the day to advance science.

Charlene Son Rigsby
STXBP1 Foundation
As President and a Founding Board Member of the STXBP1 Foundation, I am eager to help build awareness of STXBP1, and accelerate discovery of new treatments and hopefully a cure. My daughter, Juno, started missing milestones around 4 months old. After many negative and inconclusive tests over a 2.5 year journey, we finally got an answer through a new type of genetic test -- whole exome sequencing. Her positivity and persistence inspire me. I am committed to doing everything I can to help her live a full and happy life. Professionally, I have spent the last 20 years building new biotech and technology companies. Currently, I am Chief Business Officer at Fabric Genomics, a genomics software company focused on rare disease diagnosis. My career work in rare disease started coincidentally right before my daughter, Juno’s, diagnostic odyssey started. This unplanned connection between my personal life and profession has helped push forward the search for a cure for my daughter and kids like her, and given my work deeper meaning. I live in San Francisco, California. I previously served on the Board of the UC Berkeley, Haas School of Business, as the Co-Chair of the Haas Alumni Council, and as Treasurer of the Planned Parenthood – Golden Gate Action Fund. I received B.A. in Human Biology from Stanford University and an M.B.A. from U.C. Berkeley's Haas School of Business.
Mike Graglia
SynGAP Research Fund

Mike comes from a career in public policy, international development and strategy. Previous roles have included establishing a new program at New America, a DC think tank, Budget & Planning at both the Gates Foundation & Emerson Collective, healthcare consulting at BCG, developing world university support for the World Bank Group, managing a refugee program for the International Catholic Migration Commission in Zimbabwe, and teaching math in Peace Corps Namibia.

Graglia has an MBA from Columbia University where he was a Bronfman Fellow, an MA in Southeast Asian studies from Johns Hopkins School of Advanced International Studies where his studies were supported by the Paul & Daisy Soros Fellowship for New Americans. He studied mathematics at Gonzaga University, S.J. Graglia lives with his wife & two sons in Palo Alto, California.

About SRF

Michael Graglia’s son Tony was diagnosed with SYNGAP1 in 2018, he was 4. Together with his wife, Ashley Evans, he founded the SynGAP Research Fund, 501c3, to accelerate the science around SYNGAP1 inorder to make sure there is a therapy developed in a time frame that matters for his son, and children like him. SRF expects to have granted over $1M to scientific labs by the end of 2020.

Trish Flanagan
Yellow Brick Road Project
Trish is a passionate co-founding member of the Board of the Directors for The Yellow Brick Road Project and mom to Morgan, touched by an HNRNPH2 mutation. A seasoned Early Childhood Educator, she earned her Bachelors Degree of Science from Penn State University majoring in Human Development and Family Studies with an Early Childhood focus. Her first role working with children was within the Child Life Program at Westchester Medical Center in NY providing play experiences to children as well as offering psychosocial support to their families. She went on to earn her Masters Degree in Early Childhood Education from the College of New Rochelle and resides and teaches in the suburbs of New York.

Advisory boards

Clinical advisory board

scientific advisory board

Industry advisory board