Conference Speaker Bios

Ashley Anderson is a postdoctoral fellow in the lab of Dr. Huda Zoghbi in the Department of Molecular and Human Genetics at Baylor College of Medicine in Houston, TX. She received her PhD in Neuroscience from the University of Texas Southwestern Medical Center under the mentorship of Dr. Genevieve Konopka. Both her graduate and postdoctoral research have broadly focused on understanding the molecular and cellular mechanisms underlying rare neurological disorders. Currently, she studies Rett syndrome (RTT) and MECP2 duplication syndrome (MDS) caused by either loss-of-function or duplication of methyl-CpG-binding protein 2 (MECP2), respectively. Her research explores the post-translational mechanisms regulating MeCP2 protein stability using large-scale functional genomic screens, with the goal of expanding therapeutic options for RTT, MDS, and potentially other neurodevelopmental syndromes. In her future lab, she will apply her background in molecular neurogenetics to investigate how dysfunction of the catalytic and regulatory subunits of the protein kinase CK2 complex, CSNK2A1 and CSNK2B, leads to distinct neurological disorders, Okur-Chung and Poirier-Bienvenu neurodevelopmental syndrome. During her postdoc, Ashley has been recognized as a Leading Edge Fellow and awarded an NINDS Ruth L. Kirschstein National Research Service Award for her postdoctoral training. She is passionate about advancing research that directly informs therapeutic strategies for rare genetic disorders. Beyond the lab, she is committed to collaborative science and to supporting patient-driven research communities.

Grace Branger is a second-year Master of Genetic Counseling student at Vanderbilt University. She currently serves as a research intern with the CSNK2A1 Foundation, conducting a Disease Concept Study to better understand the lived experiences of individuals with Okur-Chung Neurodevelopmental Syndrome (OCNDS) and their caregivers. Grace grew up in Wisconsin and earned her bachelor’s degree in Genetics and Genomics with a minor in Disability Rights and Services from the University of Wisconsin–Madison in 2024. Her passion for disability advocacy began during her undergraduate years while working as a respite care provider for children with disabilities. These early experiences, along with her training in genetic counseling, have shaped her commitment to centering lived experience in both clinical care and research. She continues to be inspired by the resilience of rare disease families and has been honored to hear their stories. Outside of academics, Grace enjoys spending time outdoors, working on craft projects, and exploring the Nashville food scene.

Clement is an Associate Professor in the Department of Human Genetics at the University of Utah School of Medicine. Clement received his BA from Cornell University in 2003 and completed his Ph.D. in 2008 in the Department of Human Genetics at the University of Michigan. Clement completed his postdoctoral training at Cornell University. He has always had a passion for helping to advance therapies for rare diseases.

Vishnu Anand Cuddapah, MD, PhD, is a clinical neurogeneticist at Texas Children’s Hospital (TCH) and Baylor College of Medicine (BCM). After receiving his MD and PhD in neurobiology at the University of Alabama at Birmingham, he trained in child neurology and clinical neurogenetics at the Children’s Hospital of Philadelphia, followed by a post-doctoral fellowship at the University of Pennsylvania investigating how sleep loss increases seizure risk. In 2024, he launched his independent research program at the Duncan Neurological Research Institute, using Drosophila to understand why sleep and circadian rhythms are disrupted in so many neurodevelopmental disorders. His lab is now investigating the mechanisms underlying sleep difficulties in CSNK2A1-related disorders.

Deanna has been an educational professional for 18 years and has devoted 16 of those years to Special Education. For the past 12 years, Deanna has dedicated her career to Transition Education. Under Federal Guidelines, Transition Education is the time between the ages of 16-21. Based on her own experience both as an educator and an advocate for families, Deanna discovered that life after formal education begins long before the age of 16. In June of 2023, she established her own business with the specific intent of supporting families, IEP teams, and fellow educators to create an environment that produces the best possible outcomes for individuals making profound life transitions.

After studying biology at Saarland University in Saarbrücken, Germany, Joachim Jose obtained his PhD in microbiology in 1994, with a thesis on bacterial urease structure and reaction mechanisms. From 1994 to 1997, he was a postdoctoral researcher at the Max Planck Institute for Biology in Tübingen, where he played a key role in the description of a new family of secreted proteins known as autotransporters. First as a senior researcher, and then as an assistant professor (C1) from 1998, at the Institute for Pharmaceutical and Medicinal Chemistry at Saarland University, he developed autodisplay — an autotransporter protein-based surface display technology — as a tool for drug discovery and enzyme evolution. Following his habilitation in 2003, he was appointed Associate Professor (C3) of Bioanalytics at the University of Düsseldorf in 2004. Since 2011, he is Full Professor (W3) and the Chair of Pharmaceutical and Medicinal Chemistry at the University of Münster. From 2020 to 2022, he was Dean of the Faculty of Chemistry and Pharmacy at the University of Münster. He has published over 270 scientific journal articles, including 50 on human protein kinase CK2, launched 19 patent applications and supervised 50 completed PhD theses as well. His awards include the GDCh/DPhG Innovation Award in Medicinal Chemistry in 1998, the SaarLB Science Award in 2004, and the "Phoenix Pharmazie Wissenschaftspreis" in 2023. Prof. Jose is the co-founder of two start-up companies: 'Pharmacelsus' (founded in 2000), for drug screening and selection; and 'Autodisplay Biotech' (founded in 2008), for biocatalytic synthesis and evolutive drug design.

Dr. Litchfield has a broad base of training in the disciplines of Chemistry, Biochemistry and Pharmacology having completed undergraduate training (Hons BSc in Chemistry & Biochemistry) at McMaster University (Hamilton, Ontario), graduate training (PhD in Biochemistry) at Western University (London, Ontario) and postdoctoral training at the Howard Hughes Medical Institute, University of Washington (Seattle). Dr. Litchfield subsequently established an independent research program at the Manitoba Cancer Foundation (Winnipeg, Manitoba) before being recruited back to Western where he currently has academic appointments in the Departments of Biochemistry and Oncology and serves as the inaugural Director, Research Infrastructure in the Schulich School of Medicine & Dentistry. He moved into this role after completing a 5-year term as Vice Dean, Research & Innovation within the School which followed 10 years as the Chair of the Department of Biochemistry. Dr. Litchfield oversees a research program in the field of signal transduction with emphasis on protein kinases and the potential of kinase inhibitors as therapeutic agents. A major focus of this work has been CK2 (encoded by CSNK2A1, CSNK2A2, CSNK2B in the human genome) which has been implicated in the control of many fundamental biological processes and has emerged as a potential therapeutic target for several forms of cancer as well as neurological syndromes and infectious diseases. Dr. Litchfield continues to be an active member of the review community for international scientific journals as well as national and international granting agencies.

Karsten Niefind comes from Northern Germany, studied biochemistry at Leibniz University Hannover, and did his PhD in the area of protein crystallography amd structural biology at the Technical University Braunschweig. He received a venia legendi in biochemistry from the Faculty of Mathematics and Natural Sciences of the University of Cologne with a habilitation thesis entitled “50 Years of Protein Kinase CK2 – A Contribution to the Structural Biology of Eukaryotic Protein Kinases” and was appointed associate professor of biochemistry there in 2013. His research activities are the structure/function relationships of selected proteins, among them – with a special focus - protein kinase CK2 which underlies the rare neurodevelopmental syndromes OCNDS and POBINDS. For this, he recruited five successive research grants and published the first crystal structures of the catalytic CK2 subunit CK2α, of a functional construct of the non-catalytic CK2 subunit CK2β, and of the CKα2β2 holoenzyme. Since 2021, the Cologne CK2 group investigates structural, biophysical and enzymological backgrounds of OCNDS-associated CK2α mutants. Beyond research, Karsten Niefind is the program coordinator for the bachelor’s study program in biochemistry at the University of Cologne, and he is intensively engaged in teaching biochemistry in various bachelor’s and master's programs.

Effie Parks was born in the magical land of Montana, where she was raised with her 12 loving siblings. After moving to Washington and marrying her husband, they were blessed with the birth of their son, Ford Canon Parks. When she learned that Ford had been born with an extremely rare genetic condition – CTNNB1 syndrome – she dove into the world of advocacy. Now, she is the host of her own podcast, Once Upon a Gene, where she speaks to others about their journey through life with rare disease. Since the launch of the podcast, Once Upon A Gene was awarded “Best In Show Podcast” by WEGO Health. Podcast Magazine recognized Effie as one of the 40 Under 40 Podcasters and she has been nominated for two Champion of Hope awards from Global Genes. Her mission is to learn, lift voices of the community, connect people to resources and to leave this world better than she found it for others in the rare disease world.

Dr. Okur is a clinical and laboratory geneticist from Turkey and currently a clinical molecular laboratory director at New York Genome Center. He has experience in clinical, diagnostic, and research fields of human genetics.

Jessica Ruth is an experienced Education Specialist with over 15 years of dedication to supporting students with extensive support needs across private schools, public schools, and community-based settings. Holding a Master’s degree in Special Education, Jessica brings both professional expertise and lived experience to her work—her passion for inclusive education is deeply rooted in her role as a sister to an autistic brother. Jessica is committed to helping students lead joyful, authentic lives filled with agency, belonging, and opportunity. Her work centers on creating inclusive, accessible environments where every student, regardless of ability, is seen, valued, and empowered to thrive. She works with students of all ages and abilities, tailoring her approach to honor each individual’s strengths and needs. A certified Sibshop facilitator, Jessica is especially passionate about supporting siblings of individuals with disabilities, helping them find connection, understanding, and resilience. Her advocacy extends beyond the classroom, championing practices that foster true inclusion, community engagement, and family-centered support. Jessica brings warmth, insight, and a collaborative spirit to every conversation, inspiring educators, families, and communities to reimagine what's possible for all learners.

Tristan T. Sands, MD, PhD is Assistant Professor in the Columbia University Vagelos College of Physicians & Surgeons. Dr. Sands is a pediatric neurologist who treats babies and children for epilepsy and neurodevelopmental disability, including a number of patients with pathogenic variants in CSNK2B. Dr. Sands's laboratory in the Center for Translational Research in Neurodevelopmental Disease uses mouse and human cellular models to examine the mechanisms by which rare genetic mutations result in neurodevelopmental and epilepsy phenotypes in order to devise novel therapeutic strategies to improve care of patients. The work presented here is the result of collaborative efforts with the laboratory of Dr. Christopher Makinson. These efforts have been made possible by a generous gift from Frank and Heather Jackson.

Dr. Miya St John is a post-doctoral fellow and speech pathologist, with a background in linguistics, speech pathology, genetics and neurodevelopmental conditions. She has experience working as a speech pathologist both clinically and in research over the past 10 years. Miya’s primary research interests include understanding the speech and language profiles of individuals living with rare genetic conditions, with a particular interest in chromatin-related disorders. She aims to understand the best treatment strategies for children with complex genetic conditions and speech disorders in the future and how we can use speech measures in future clinical trials. Miya also supports students clinically at the Melbourne Indigenous Transition School and is a Lecturer of Speech Pathology for the University of Melbourne, teaching into early communication development, motor speech disorders, and linguistics.