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2023 ACMG Annual Clinical Genetics Meeting Digital ...
A Clinical-Translational Model of Leukoencephalopa ...
A Clinical-Translational Model of Leukoencephalopathy with Calcifications and Cysts
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Pdf Summary
Leukoencephalopathy with Calcifications and Cysts (LCC) is a rare neurological disorder characterized by symptoms such as epilepsy, motor dysfunction, cognitive impairment, feeding difficulties, and behavioral changes. It can occur at any age and is characterized by calcifications, cystic degeneration of brain tissue, and white matter disease. LCC is caused by genetic variants in the SNORD118 gene. The molecular mechanisms of LCC are not well understood, and treatment is currently supportive.<br /><br />A cohort of individuals with LCC was clinically characterized to better understand the disease. Additionally, a rodent model of LCC was developed using CRISPR/Cas9 technology to study the pathogenesis of the disease. The researchers followed the mice from birth to natural death to observe their growth and development.<br /><br />The goal of this research is to identify potential therapeutic targets for LCC. The heterogeneity of neurological phenotypes associated with LCC makes it important to understand the impact of various factors on symptomatology and clinical trajectory. By combining clinical and translational approaches, researchers hope to develop targeted therapies for LCC, including gene or RNA therapies.<br /><br />The study also highlights the common clinical features of LCC, including neurocognitive dysfunction, motor abnormalities, swallowing difficulties, and epilepsy. Imaging studies show white matter abnormalities, calcifications, and cysts in affected individuals. Learning difficulties and the need for additional educational support are common among LCC patients.<br /><br />The research was made possible through the participation of patients and their families, as well as the support of the Neurometabolic Disorders Research Fund and the expertise of the Global Leukodystrophy Consortium.<br /><br />In conclusion, the clinical and translational research on LCC aims to improve our understanding of the disease and identify potential targeted therapies. The development of a rodent model provides a valuable tool for studying the pathogenesis of LCC. The study also sheds light on the common clinical features and imaging findings associated with LCC.
Asset Subtitle
Presenting Author - Jennifer Harmon, MD, PhD; Co-Author - Brianna Pierce, BS; Co-Author - Jullie Rhee, MSN, CPNP-AC; Co-Author - Kyle Kroll, BS; Co-Author - Nhu Chau, BSC; Co-Author - Matthew Whitehead, MD; Co-Author - Laura Tochen, MD; Co-Author - Jamie L. Fraser, MD, PhD, FACMG;
Meta Tag
Cognitive Disorders
Etiology
Model Organisms
Natural History
Neuroscience
Pathogenesis
Co-Author
Brianna Pierce, BS
Co-Author
Jullie Rhee, MSN, CPNP-AC
Co-Author
Kyle Kroll, BS
Co-Author
Nhu Chau, BSC
Co-Author
Matthew Whitehead, MD
Co-Author
Laura Tochen, MD
Co-Author
Jamie L. Fraser, MD, PhD, FACMG
Presenting Author
Jennifer Harmon, MD, PhD
Keywords
LCC
Leukoencephalopathy with Calcifications and Cysts
neurological disorder
epilepsy
motor dysfunction
cognitive impairment
genetic variants
rodent model
pathogenesis
targeted therapies
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