Publications by authors named "Robin Yoon"
Nearly 30 million (about 1 in 10) Americans have a rare disease. On average, rare disease patients wait 6 years for an accurate and definitive diagnosis and see as many as 12 specialists along their diagnostic journey. In this brief article, we highlight some of what is being done across patient care, medical education, policy, and innovation in order to improve the diagnostic and treatment journeys of rare disease patients.
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- * Researchers created a mouse model using CRISPR/Cas9 to study the disease, which mimics characteristics seen in human patients, such as specific gait abnormalities and a reduction in motor skills over time.
- * The Glb1 mice also display progressive brain atrophy and increased levels of a pentasaccharide biomarker, supporting their relevance for developing new treatments for GM1 gangliosidosis, particularly the less severe type II variant.
Article Synopsis
- GM1 gangliosidosis is a genetic disorder caused by mutations in the GLB1 gene, leading to a range of clinical presentations from severe infantile forms to less serious adult forms, with an intermediate type that includes late infantile and juvenile variations.
- A study evaluated skeletal abnormalities in 13 late infantile and 21 juvenile patients, finding distinct radiological features, as well as significantly decreased bone mineral density (BMD) but no fractures in either group.
- Late infantile patients showed consistent odontoid hypoplasia, indicating the need for cervical spine assessments before procedures, while juvenile patients exhibited more varied skeletal issues affecting daily activities, highlighting the importance of ongoing monitoring for skeletal health.
GM1 gangliosidosis is an autosomal recessive neurodegenerative disorder caused by the deficiency of lysosomal β-galactosidase (β-gal) and resulting in accumulation of GM1 ganglioside. The disease spectrum ranges from infantile to late onset and is uniformly fatal, with no effective therapy currently available. Although animal models have been useful for understanding disease pathogenesis and exploring therapeutic targets, no relevant human central nervous system (CNS) model system has been available to study its early pathogenic events or test therapies.
View Article and Find Full Text PDFMethoxetamine (MXE) is an N-methyl-d-aspartate (NMDA) receptor antagonist that is chemically and pharmacologically similar to ketamine. Recently, there have been many reports regarding its use/misuse in humans which have resulted in serious or even fatal outcomes. Despite these reports, MXE is not controlled or regulated in many countries which may be partly due to the lack of scientific evidence regarding its abuse potential.
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