For decades, the dominant framework for understanding neurodegenerative disease has centered on inherited risk genes. A growing body of single-cell genomics res...
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The C9orf72 hexanucleotide repeat expansion is the most common genetic cause of both ALS and frontotemporal dementia (FTD). Carriers face roughly a 50% chance o...
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When Trace Neuroscience announced on June 22 that first patients had been dosed in the LAUNCH ALS trial, it felt like the right moment to revisit our original p...
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In the space of five days, the FDA reversed its position on two rare disease gene therapies it had previously rejected. On June 17, the agency agreed that UniQu...
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In the most recent episode of The Genetics Podcast, Patrick Short speaks with Dr. Sarah Marzi, Senior Lecturer at King’s College London and Group Leader at the ...
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The majority of rare disease discovery has been linked to protein coding genes, where changes are easier to interpret and easier to capture in routine testing. ...
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In a recent episode of The Genetics Podcast, host Patrick Short talked with Dr. Arabella Bouzigues, postdoctoral researcher and coordinator of the Genetic Front...
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Spatial omics have revolutionized biomedical research in recent years. The use of spatial techniques unlocks cell-specific understanding of disease, which suppo...
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In last week’s episode of The Genetics Podcast, Patrick Short sat down with Wanda Smith, founder of CureGRN and long-time advocate for families affected by prog...
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Precision medicine trials increasingly depend on genetic or biomarker testing to determine eligibility. Each additional test introduces operational complexity: ...
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