SATB2 Gene Foundation

The SATB2 Gene Foundation, Inc. was established to enrich the lives of individuals with SATB2-associated syndrome, including those diagnosed with the condition and their families, through support, research and education.  Our mission will be met by:

  • Providing support to families.

  • Supporting research in a wide range of issues related to SATB2-associated syndrome.

  • Raising awareness about the characteristics of SATB2-associated syndrome.

We are pleased to share our 2019-2021 Strategic Plan that will help serve as our roadmap.

View Strategic Plan
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Board of Directors

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.

Dr. Caffrey is a scientist who has studied the benefits and harms of medications for more than a decade. As a leading expert in pharmacoepidemiology and health outcomes research, she began her career in the pharmaceutical industry, and then transitioned to a career in academia at the University of Rhode Island (URI) and developed a health outcomes research program at the Providence Veterans Affairs Medical Center (PVAMC).  She also oversees the protections of human subjects in research as Chair of the Institution Review Board (IRB) at the PVAMC and member of the URI IRB.

As Vice President of the SATB2 Gene Foundation and a mother of son with SATB2-associated syndrome, she leads research initiatives for the Foundation.

Dr. Caffrey’s Curriculum Vitae

Nicole Johnson is a full time paramedic in her local residential area. She has an education background and holds a B.S. in Biochemistry and Molecular Biology as well as a B.S. in Secondary Education. She is a SATB2 parent and represents and supports the foundation as the parent liaison.

Adrienne Vinson Waddey graduated from with a BA in Sociology from Emory University in 2011 where she began working for the Atlanta Area Council, Boy Scouts of America.  Mrs. Waddey now serves as the Chief of Staff and Director of Strategic Projects at Oxford College of Emory University. In her role as Chief of Staff Mrs. Waddey manages strategic projects related to advancement, operations, and college and university priorities.  Mrs. Waddey received an MBA from Emory University – Goziueta Business School in 2018.

Casey Edwards graduated as a Doctor of Medicine in 2009 from The University of Texas Health Science Center in San Antonio and trained in the field of Obstetrics and Gynecology. Casey later left her practice of medicine to focus on raising her 3 children and to embrace her role as an advocate for her daughter with SAS. Casey continues to be passionate about research and education and enjoys applying her background to support the foundation.

Bill recently retired from the State University of New York at Buffalo (UB) after 39 years, serving as the director of university events during the last 27 of those years.  His areas of expertise include project management, program development, budgeting, and  sponsorships.  Bill earned his BA & MBA from UB.  He is a current board member of two local foundation boards.

Bill and his wife Terry have three adult children.  Their oldest is Lindsay, born in 1989, who was diagnosed with SATB2-associated syndrome in 2017.  Lindsay continues to live at home with her parents and attends full-time day programming through People Inc.

Medical and Scientific Advisory Board

Dr Yuri Zarate is a Clinical Geneticist and an Associate Professor at the University of Arkansas for Medical Sciences and Arkansas Children’s Hospital. In 2014, Dr Zarate started a research project that led to a report with the first cohort of patients with SATB2-associated syndrome (SAS). From there, he established a strong-long lasting relationship with the support group for this rare condition, created the initial dedicated SAS website (http://satb2gene.com/), and launched the only available clinical registry for this syndrome. Through his leadership, Arkansas Children’s Hospital hosted multidisciplinary international SAS clinics in 2017 and 2018 and will continue to be the only dedicated clinic in the United States to offer routine care for this population. Dr Zarate has published extensively on different aspects regarding this syndrome and activity leads and collaborates on several ongoing SAS-related research projects.

Dr. Meena Balasubramanian completed her Pediatric training before undertaking specialist training in Clinical Genetics. Her MD is on atypical presentation of Osteogenesis Imperfecta (OI) obtained in 2012. She has been a Consultant in Clinical Genetics with a specialist bone genetics interest at Sheffield Children’s Hospital since 2012, and provides genetics input to the national OI service. She has led several projects focused on genetics of rare bone disorders and currently pursuing research projects focussed on identifying novel genomic approaches to rare bone disorders and exploring newer targets for therapy for these conditions.

Dr Balasubramanian has a long-standing interest in SATB2/ 2q33 microdeletion syndrome having published the largest series of patients with 2q33 deletion at the time (Balasubramanian et al., J Med Genet 2011) and UNIQUE leaflet on this. She has since established a national multi-disciplinary SATB2 clinic in the UK and a regular attendee at the UK-SATB2 support group annual meeting since its inception.

Her other roles include Bone fragility lead for Genomic Clinical Interpretation Partnership (GeCIP), part of 100,000 Genomes project initiative to establish genetic causes of rare diseases in UK. She is the Diagnostic Working Group Co-lead for BOND-ERN (Rare Bone Disease- European Reference Network). She works as Council member for Clinical Genetics Society and serves on the ‘Medical Advisory Board’ for Brittle Bone Society, recently doing a podcast on genetics to coincide with Rare Disease Day in Feb 2019.

Her research interests include: SATB2 and bone health, digital disease phenotyping; basic science research with industry in identifying new targets for treating bone fragility. She has close links nationally and internationally with scientists and clinicians in other metabolic and genetic centres.

Dr Balasubramanian’s  other areas of specialism, include Genetics in autism & Paediatric Dysmorphology. She has published over 67 first and senior-author publications in these areas; patient information leaflets for rare genetic disorders and text books including a recent molecular medicine series on OI.

Dr. Jennifer Fish is an Assistant Professor at the University of Massachusetts Lowell (UML), where she teaches Developmental Biology and Comparative Vertebrate Embryology. Prior to arriving at UML, she trained at King’s College London and the University of California San Francisco. Dr. Fish has been researching the roles of SATB2 in development since 2008 using animal models of disease. Her research involves in vivo assays (in the mouse model system) and in vitro studies on osteoblasts (bone cells) and neurons. Additionally, through involvement in the SATB2 Gene Foundation, Dr. Fish’s lab is using SAS patient-derived induced pluripotent stem cells to further investigate disease mechanisms and treatments.

Dr. Barber Tinselboer is a physician for people with Intellectual Disabilities (ID). In the Netherlands, this is a medical specialty, created to provide better medical care to people with ID. Her work is comprised mostly of treating the comorbid conditions in people with ID like epilepsy, behavioural issues, psychiatric disorders and additional physical problems. She works at ‘s Heeren Loo in Apeldoorn, an organization that provides care, services and treatment for people with ID. She also has a son with SATB2-associated syndrome.

Ashlen Thomason, Ph.D., CCC-SLP, is a member of the outpatient speech pathology team at Arkansas Children’s Hospital. She is a graduate of the Arkansas Consortium for the Ph.D. in Communication Sciences and Disorders with a major research emphasis in stuttering and minor in cleft palate. Ashlen is an adjunct instructor for the University of Arkansas for Medical Sciences Department of Audiology and Speech Pathology graduate program teaching Fluency Disorders and supervising student clinicians. She is the director of the Arkansas Stuttering Network, a non-profit organization designed to elevate the level of care available to Arkansans who stutter.

International Affiliates

The SATB2 Gene Foundation is an international organization that supports all families living around the globe, through a unified approach to ensure that we succeed in achieving our mission and vision for all families living with SATB2-associated syndrome. Together, we continue to collaborate and provide support of our families, educating the world about SAS, and furthering research.

SATB2 Gene Trust UK
Association Francaise Du SATB2
Asociación del Síndrome Asociado al SATB2-SAS

Membership Information

The SATB2 Gene Foundation is a proud member of the Global Genes Foundation Alliance and COMBINEDBrain.

Global Genes Foundation Alliance

Global Genes Foundation Alliance is an organization who advocates, partners and collaborators who are relentless in our efforts to affect change. They do this to eliminate the daily challenges for 1 in 10 people affected by rare disease. They empower patients, build communities & drive forward momentum for rare disease globally. Global Genes’ mission is to connect, empower and inspire the rare disease community. They envision a globally connected community equipped to eliminate the challenges of rare disease.

COMBINEDBrain

COMBINEDBrain (Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders) is a consortium led by patient advocacy foundations, working with the clinicians, researchers and pharmaceutical firms that are developing treatments for the disorders they represent. They are devoted to speeding the path to clinical treatments for people with severe rare genetic non-verbal neurodevelopmental disorders by pooling efforts, studies and data.

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