RARE DISEASES CLINICAL RESEARCH NETWORK
Batten Disease Clinical Research Consortium |  |
Driving discovery for neuronal ceroid lipofuscinoses (NCLs, Batten diseases), which are inherited, fatal lysosomal disorders that begin in childhood with symptoms such as vision loss, epilepsy, dementia, and movement disorders, resulting in lifelong disability and shortened lifespan. | |
Principal Investigator
Kennedy Krieger Institute
THE
NUMBERS
What was your consortium's most significant achievement from the past year?
Erika Augustine, MD, MS, Principal Investigator, BDCRC: This year, the BDCRC formally established its operating infrastructure, bringing together investigators, research coordinators, caregivers and advocacy partners, and centralized data management and coordination support, focused on the goal of advancing clinical research in Batten disease. Initial organizational efforts centered on a collaborative process to finalize research protocols and supporting materials, reflective of the stakeholder research priorities established during the initial formation of the BDCRC, and regular communication with the Batten disease community. Monthly meetings were a key forum for this collaborative work, and served as the setting for BDCRC Learning Labs, our educational series featuring 15-minute presentations from subject matter experts on topics relevant to the consortium. The year culminated in a two-hour BDCRC symposium for families and the Batten disease community at the annual Batten Disease Support, Research, and Advocacy (BDSRA) Foundation family conference.
EARLY CAREER INVESTIGATOR SPOTLIGHT
What are your research goals?
Dr. Chatzipli: My research focuses on using high-resolution multi-omic approaches and human-specific model systems to bridge molecular discovery and clinical therapy for rare brain disorders. My primary goals are: (1) to generate the first single-cell atlas of Batten disease across multiple subtypes and healthy controls, identifying shared cellular and molecular mechanisms of neurodegeneration; (2) to evaluate the distribution and efficacy of individualized antisense oligonucleotide (ASO) and gene therapies in rare postmortem human brain tissue, addressing key barriers to clinical translation such as limited neuronal uptake despite promising animal studies; and (3) to develop and apply human-specific models, including brain organoids, to better predict therapeutic outcomes and improve the translation of novel treatments from the laboratory to patients.
Patient Advocacy Impact Story
