leadership Team

KAREN DEMPSEY

EMILY DURHAM

AMBER LOPEZ

NIKKI SHEARER

INEZ VAZQUEZ

  • Karen Dempsey joined The TBCK Foundation in February 2024 as the Director of Administration. With 30 years of experience in the non-profit development and management, Karen brings experience and expertise to TBCK advocacy.

    Karen lives in Pittsburgh, Pennsylvania, where she enjoys gardening and spending time with her children and grandchildren.

  • DIRECTOR OF RESEARCH ENGAGEMENT

    Emily Durham joined The TBCK Foundation in July 2023 as the Research Engagement Director. She holds a PhD in biomedical sciences from the Medical University of South Carolina and an MA in research ethics from Duquesne University. Currently, Emily is a postdoctoral fellow at Children’s Hospital of Philadelphia where she studies skull and brain development and changes caused by loss of TBCK and other neurodegenerative conditions.

    When not doing science, or mentoring others in STEM, Emily enjoys gardening, reading, and being a mom. She lives near Philadelphia with her husband, daughter, and two cats.

    Emily can be reached at emily@tbckfoundation.org

  • Amber Leos-Martinez joined The TBCK Foundation in 2024 as our Social Media Coordinator. Amber is a dedicated and passionate advocate for her TBCK Warrior, her daughter Addison and is excited to extend her support to all TBCK Warriors. When her daughter was diagnosed with TBCK Syndrome at 1.5 years old, Amber and her husband met with their genetic specialist, who referred them to The TBCK Foundation and explained just how rare this disease is. As the Social Media Coordinator for The TBCK Foundation, Amber hopes to share the light of each TBCK Warrior for who they are and what they bring to each of their family's lives and The TBCK Foundation.

    amber@tbckfoudation.org

  • Director of Community Engagement

    Nikki Shearer joined The TBCK Foundation team in 2024 taking on the role of Director of Community Engagement. With a Bachelor's degree in Human Services and Counseling, Nikki brings experience working closely with families to her position. As a mother of three TBCK Warriors, Nikki has a personal connection to the cause.

    For the past five years, Nikki has tirelessly searched for answers and advocated for families facing similar challenges. Now, as part of The TBCK Foundation, she is determined to expand and strengthen the TBCK community by providing support and resources to families in need. Nikki's passion for advocacy shines through in her commitment to making the journey easier for families who are just beginning their TBCK diagnosis.

    Nikki adores the moments she spends with her husband and daughters. Watching her daughters conquer challenges and remain content despite the hurdles they face makes all the effort and sacrifices completely worthwhile.

    Nikki can be reached at shearer@tbckfoundation.org

  • Volunteer Coordinator

    Inez Vazquez joined The TBCK Foundation team in 2024 as our Volunteer Coordinator. Like many of our TBCK mommies, Inez is driven by a quest for solutions. Following her daughter Violet’s TBCK Diagnosis two years after birth, Inez discovered the TBCK Community Support Group on Facebook in 2018. This platform became a pivotal space where she connected with families who shared similar experiences. Engaging with and supporting these families transformed Inez into a compassionate advocate and listener and she brings that to her role as Volunteer Coordinator

    Continuing to champion for Violet and numerous other TBCK families, Inez stands out as a dedicated supporter and avid enthusiast of The TBCK Foundation. Beyond her involvement at The TBCK Foundation, Inez’s primary passion lies in animal care, as she is a registered veterinary technician. At home in Maryland, she shares her life with a menagerie of two dogs, three cats, two turtles, a bird, two children and her husband.

    Inez can be reached at inez@tbckfoundation.org

Board of Directors

DAVID BINKLEY

NIKKI STUSICK

SARAH DAVID

YESENIA DAVILA

ABDIAS DIAZ

EMILY TAYLOR

  • David Binkley is The TBCK Foundation’s founding Vice President and helped launch the organization after the initial diagnosis of TBCK Syndrome for his grandson, Theo. Dave has continued in his role on our Board since 2019. Dave brings extensive leadership expertise as a former CHRO at Whirlpool and currently as a senior advisor at Vantage Leadership Consulting.

    Dave attended Michigan State’s Graduate School of Human Resources and Labor Relations, and the General Manager program at INSEAD. In addition to The TBCK Foundation, Dave serves on several nonprofit boards in Southwest Michigan. Most recently, Dave’s advocacy for disabilities continues as he and his family are building an all-abilities playground in their hometown of St. Joseph, Michigan named Kaleidoscope Playground. Dave enjoys travel, being active outdoors, and recently completed his professional certification as a Sushi Chef.

  • Sarah David has been teaching middle school Language Arts for twenty years and has a masters degree in the art of education. She’s been an ally and advocate for the TBCK community since she met her friend and then colleague, Nikki Stusick and her son, Theo. For Sarah, serving on the Board after witnessing the challenges and frustration of navigating the world of TBCK continues to be a wonderful opportunity to take action and support our community in new ways.

  • Cindy Leung is a dedicated mother and advocate for her son, Liam, who was diagnosed with TBCK. Bringing 25 years of professional expertise in sales and marketing to contribute to the TBCK Foundation's Board of Directors. She is committed to advancing the foundation's mission and making a meaningful impact. Cindy is currently the Marketing Director for a senior living organization in Bellevue, WA, where she and her family reside.

  • Yesenia Davila is a mother and advocate based in the small town of Clute, Texas. As a mother of two children who share the TBCK gene (Gizelle and Genelle), Yesenia first became involved with the TBCK Foundation after attending the very first TBCK Foundation conference in Orlando. Her role on the TBCK Foundation board brings an important perspective as a parent and trusted member of the TBCK family.

  • Nikki Stusick is the co-founder of The TBCK Foundation (TTF) and after years of serving as the Executive Director now serves as Board President. Nikki is the parent of Theo, who inspired the founding of TTF after his initial diagnosis of TBCK Syndrome. Nikki is an alumna of Calvin University (BA) and the University of Michigan (MSW.) Nikki cites hosting a charity race called, Race for Rare Kids for five years and serving as the grant lead for The TBCK Foundation’s selection in the Chan Zuckerberg Initiative’s Rare As One Network Grant Program as two highlights over the past years at TTF.

    Nikki became a rare disease and disability advocate through parenting her son Theo who has been diagnosed two times over with two different rare disease diagnoses, first TBCK Syndrome and eventually CAMK2D, both very rare diseases. (Which just means more wonderful causes to advocate for!)

    In addition to her work at TTF, Nikki is a dedicated advocate for all of rare disease and is beginning her advocacy journey to her son’s new diagnosis through the CAMK2 Therapeutics Network. As of 2024, along with her family, Nikki is building an all-abilities playground in her hometown along Lake Michigan called Kaleidoscope Playground. She is most proudly a mom to her and her husband’s three children.

    Nikki recently shared about her son’s unlikely misdiagnosis, how that impacted her advocacy as a founder of The TBCK Foundation, and her experience navigating advocacy and parenting on the beloved Once Upon A Gene Podcast.

  • Emily Taylor is from Caerphilly, Wales, United Kingdom and is a civil servant. Her daughter, Violet, was diagnosed wit TBCK Syndrome in June 2023. Just two months later, Violet passed away as a result of her symptoms. She was 11 months old. Now Emily is passionate about helping impacted families, fundraising to help fund a cure, and drawing on her personal experiences to improve the diagnostic journey, treatment and awareness of TBCK. She has two older boys, Theo and Logan.

CINDY LEUNG

Scientific Advisory Board

DR. JUDY LIU

DR. XILMA ORITZ-GONZALEZ

DR. ELIZABETH BHOJ

DR. GERALD DOWNES

  • Dr. Elizabeth Bhoj's genetics research aims to discover new human disease genes, their mechanisms, and potential targeted therapies. In addition to ongoing gene discovery efforts, Dr. Bhoj focuses on three novel genes that lead to pediatric neurologic dysfunction: TBC1 domain-containing kinase, Histone 3.3 (H3F3A and H3F3B), and MAP4K4.

  • Gerald Downes, PhD is Professor of Biology at the University of Massachusetts Amherst (UMass). Prior to joining the faculty at UMass, Dr. Downes received a B.S. in Biology from Johnson C Smith University, a Ph.D. in Neuroscience from Washington University School of Medicine, and postdoctoral training from the University of Pennsylvania Medical School. His research lab has two related goals, both using developing zebrafish as a model system. One goal is to better understand how neural networks in the brain and spinal cord are assembled to control movement. More recently, due to personal and professional reasons, he established a second goal, which is to provide new insights into epilepsies, like TBCK Syndrome, and develop new therapeutics to treat these disorders.

  • Dr. Judy Liu studies pediatric epilepsy as a clinical and basic researcher. She has worked on both rare and common forms of the disorder focusing on cytoskeleton, gene expression, and metabolism. She earned an MD./ Ph.D. at the Albert Einstein College of Medicine, and did her residency in neurology at Beth Israel Deaconess Medical Center, a Harvard Medical School affiliate, where she was chief resident. After post-doctoral studies, she joined the faculty at George Washington University. In 2018, she moved to Brown University where she is Associate Professor and Associate Director for the Center for Translational Neuroscience.

  • Dr. Xilma Ortiz-Gonzalez is a physician-scientist specializing in pediatric neurogenetics. She trained as a child neurologist at CHOP and her clinical practice focuses on the diagnosis and management of ultra-rare disorders. She has contributed to the discovery of multiple novel human disease genes, including TBCK, and first characterized the disease symptoms linked to the Boricua founder variant in this gene. Her research focuses on unraveling the molecular mechanisms that underlie neurodegeneration. Her laboratory uses patient-derived iPSC stem cells with the ultimate goal of identifying potential therapeutic strategies. She is the recipient of numerous awards, including the RWJ Harold Amos Faculty Development Award, the Burroughs Wellcome Fund CAMS Award, the Al Dia Top Doctor Award, the ANA Emerging Scholar Award & the Philadelphia Magazine Top Doctor Award. She is a proud Boricua and mother of 2 young children.

GET INVOLVED

Join Us in Shaping a Brighter Future: Volunteer with TBCK Foundation

Are you ready to make a lasting impact in the lives of families and individuals touched by TBCK Syndrome? The TBCK Foundation is calling on passionate individuals, like you, to join our community of changemakers. As a volunteer, you'll become a vital force in driving research, offering support, and fostering connections within our growing family. Unite with us to amplify stories, to empower families, and to pave the way for groundbreaking advancements. Volunteer with the TBCK Foundation and become part of a movement that thrives on compassion, unity, and unwavering commitment.

Ready to ignite change?

Reach out to us at info@tbckfoundation.org and let's make a lasting impact together.

The TBCK Foundation is a registered 501(c)(3) charity organization. Please note that we provide this information for the benefit of TBCK syndrome community. We are not a medical provider or health care facility and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. Patients must rely on individualized medical advising from qualified health care professionals before seeking any information related to their particular diagnosis, cure, or treatment of a condition or disorder. The TBCK Foundation is recognized as a 501(c)3 non-profit corporation. EIN 83-3095299.

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