Utah RDAC Council Members

Lorenzo Botto

Chair

Physician, Medical Geneticist

University of Utah

Lorenzo is a clinician and epidemiologist, trained in medical genetics and public health. His clinical work focuses on the diagnosis and care of families with rare and undiagnosed conditions. Rare and undiagnosed individuals and families are many but are largely unseen and unheard. This community is stronger if it joins forces with providers and other stakeholders and speaks with one voice to policy makers.

Gina Szajnuk (Zanik)

Vice Chair

Nonprofit/Advocate

Rare and Undiagnosed Network (RUN)

Gholson Lyon

Secretary

Physician, Psychiatrist

Roseman University

Gholson is a psychiatrist and physician-scientist. In addition to his research on the genetics of neuropsychiatric illnesses, Gholson is focusing on the genetic basis of rare Mendelian diseases and the development of treatment strategies for some of these conditions.

He is working with many rare diseases, primarily presenting with neurodevelopmental and/or neuropsychiatric symptoms.

Pinar Bayrak-Toydemir

Council Member

Physician, Clinical Molecular Geneticist

ARUP Laboratories and University of Utah

Justine Case

Council Member

Advocate

Utah Rare Disease Advisory Council

Justine is a patient advocate and educator for complex and rare medical conditions; she and her family are impacted by multiple rare disorders. She serves as a grassroots and national community leader and works to ensure accuracy within the online groups she runs to assist her communities’ medical literacy and effective navigation of healthcare systems. Her experience spans from legislative advocacy to clinical work and health promotion, including helping to design population studies for disease-specific community and nonprofit groups.

Justine is committed to helping herself and others living with rare and complex conditions gain access to quality care and treatment. She was very fortunate to have a career that prepared her to thrive as a complex patient, and she works hard to share knowledge with her community.

Kira Chaney

Council Member

Advocate

Utah Rare Disease Advisory Council

Kira is a dedicated patient and political advocate specializing in rare disorders, driven by her own journey navigating healthcare systems as a rare disease patient. Her unique experience combined with an academic background in anthropology, integrative human biology, and an M.S. degree in healthcare administration provide her with a comprehensive understanding of the complex social and medical issues faced by rare disease patients. She is devoted to innovation and the removal of systemic barriers to the diagnosis and treatment of rare disorders.

She is a rare patient and rare advocate looking for ways to help her communities.

Ronald (Ron) Day

Council Member

Physician, Pediatric Cardiologist

University of Utah

Troy Evans

Council Member

Treasurer

Undiagnosed Disease Network Foundation

Troy is a patient of the Undiagnosed Diseases Network and a resident of West Jordan, UT. He later became a founding member of the Undiagnosed Diseases Network Foundation (UDNF) and is currently serving as treasurer on the UDNF Board of Directors.

Marian Furst

Council Member

Retired Patent and Trademark Attorney

Utah Rare Disease Advisory Council

Marian is a retired patent attorney, a second career she adopted after working in the oil and gas industry. She earned a bachelor’s degree in chemistry, a master’s degree in inorganic chemistry, a PhD in Geochemistry, and a law degree. She is also a patient with three diagnosed rare diseases, the most significant of which is a genetic immune deficiency. As a volunteer for the Immune Deficiency Foundation, she became aware of many issues faced by the primary immune deficiency community and the broader rare disease community. Through the Immune Deficiency Foundation, she discovered a passion for advocacy about these issues.

She has a desire to use her advocacy skills and experience to help the rare and undiagnosed community.

Sylvia Lam

Council Member

Executive Director, Non-Profit Organization Management

United Angels Foundation

Sylvia is a non-profit professional with over 20 years of experience in community programming and event management. Currently serving as the Executive Director of United Angels Foundation (UAF), a 501(c)(3) organization, she is dedicated to supporting parents and families of individuals with special needs. As one of the founding members of the Utah Rare Disease Advisory Council (RDAC), Sylvia joined with the goal to help empower families and patients in advocating for policies that enhance their quality of life.

Originally from the San Francisco Bay Area, Sylvia relocated to Utah in 2018, where she resides with her husband and their two children.

“I recognize the importance of uniting individuals to create a more powerful voice in advocacy and awareness. By fostering connections, we not only strengthen our collective impact but also cultivate a vibrant community that provides essential social and emotional support.”

Kristen Pauley

Council Member

Genetic Counselor

Huntsman Cancer Institute

Kristen is a board-certified and licensed genetic counselor with a master’s degree in genetic counseling from Thomas Jefferson University. She began working at Huntsman Cancer Institute in June 2019. Kristen provides genetic counseling regarding hereditary cancer risks to patients in the Family Cancer Assessment Clinic. She also provides genetic counseling for hereditary conditions with increased risks for renal cancer such as Von Hippel-Lindau (VHL) to patients and families. Kristen’s research interests include genetics education, alternative genetic counseling models/methods, and genetic testing modalities. She is also involved in the University of Utah Graduate Program in Genetic Counseling (UUGPGC). She teaches and provides clinical supervision at Huntsman Cancer Institute for UUGPGC students.

Kristen works with patients with rare diseases such as Von-Hippel Lindau and Birt-Hogg-Dube and is passionate about helping her patients, and others with rare diseases, have a voice in state government to help get them the services they need.

Matthew Pearl

Council Member

Rare Disease Patient Advocate

Utah Rare Disease Advisory Council

Matthew is an individual with Fanconi Anemia and a patient advocate. He serves in various capacities on several nonprofits including: the National Ability Center in Park City, Utah. He is on both the Utah Rare Disease Advisory Council (RDAC) and The Professional Ski Instructors of America – American Association of Snowboard Instructors Intermountain Board of Directors. Matthew studied nonprofit leadership consulting and psychology at Westminster College in Missouri and is a native of St. Louis. Matthew is a patient leader in the Fanconi Anemia community.

His sister also has a rare disease, and he wants to help as many people as he can before he dies.

David Viskochil

Council Member

Physician, Medical Geneticist

University of Utah

Dave is Professor of Pediatrics and director of the Neurofibromatosis Clinic at the University of Utah. He received his bachelor’s degree in biology from the University of Arizona and his doctorate in biochemistry and medical degree from the University of North Carolina. He completed his residency and clinical genetics fellowship at the University of Utah Affiliated Hospitals. His medical genetics training at the University of Utah was mentored by Dr. John Carey and Dr. Ray White. Dr. Viskochil has focused his research in the molecular genetics of neurofibromatosis type 1 (NF1) and is now working on the clinical aspects of NF1, including clinical trials. He was the recipient of a Young Investigator Award from the National Neurofibromatosis Foundation (now CTF; Children’s Tumor Foundation) in 1988. He is the director of the medical genetics training programs and serves as the medical director of the UUGPGC. He is on the advocacy and legislative affairs committee of the American College of Medical Genetics (ACMG) and serves as the chair of the Utah Newborn Screening Program. He is also a member of the executive committees of the Penelope Program, Center for Genomic Medicine, and the Utah Prader-Willi Syndrome Clinic.

Dave hopes to decrease the diagnostic odyssey, educate and counsel families with rare conditions, and provide interventions when appropriate.

Tanner Withers

Council Member

Disability and Special Needs Planner

Albility Planning

Tanner was born and raised in Lehi, Utah, now calling Mapleton home. He is married to Maddie, who takes care of their children and runs a very successful permanent makeup business. They have two little girls, Florence and Halcyon. Halcyon was adopted from Colombia in the Fall of 2023. Halcyon, has a rare disease called Cornelia de Lange Syndrome. With a professional background in finance, and a personal connection to this community, Tanner founded a Disability & Special Needs Planning firm, called Albility Planning, focused on the financial, benefits, estate, and family support strategies.

A year ago, Tanner had never heard of the RDAC. Two years ago, he had never really heard about “rare diseases.” Today, as a parent of a sweet girl with a rare disease, and as a professional serving the rare disease, special needs, and disability community, he is starting to understand what it means to be an active advocate. Bringing awareness, and advocating for his daughter, and others like her is now just part of their lives–and the RDAC provides a larger voice.

Rebecca Yates

Council Member

Health Insurance Broker and Consultant

Ark Insurance Solutions, LLC

Rebecca is the founder and CEO of Ark Insurance Solutions in Utah, a company dedicated to providing personalized insurance solutions. With a deep commitment to advocacy, Rebecca ensures that her clients have access to the best coverage options, empowering them to make informed decisions about their health and financial well-being. Through her work, she advocates for transparency, fairness, and the protection of her clients’ interests in the complex world of insurance.

As a parent, caregiver and patient with a rare disease, this community is near and dear to her heart!

Sally Jo Zuspan

Council Member

Research Director

University of Utah

Sally Jo is a registered nurse by training but developed a passion for research. She has managed the Utah Data Coordinating Center for the past 20 years and has provided oversight for clinical research and clinical trials that impact patient care and health. She also oversees research activities for several rare and uncommon disease networks with researchers from around the country. She has expertise in data collection and analysis, grant development and clinical trial execution.

She thinks research and data are key areas to help discovery in rare disease areas and would like to contribute her expertise where needed.