by CheckRare Staff | Jan 23, 2024
Dr. La Piana, MD, PhD, Professor in McGill’s Department of Neurology and Neurosurgery, discusses adult-onset leukoencephalopathy with axonal spheroids and pigmented glia. Transcription: One of the features that really should be considered a red flag is...
by CheckRare Staff | Jan 22, 2024
Monica Gadelha, DR, PhD, at the University of Rio De Janeiro discusses the PATHFNDR-1 trial and acromegaly. Transcription: The patients that finish the core phase can enter in the extension phase. The vast, vast majority, I think that’s more than...
by CheckRare Staff | Jan 20, 2024
Monica Gadelha, DR, PhD, University of Rio De Janeiro, discusses her acromegaly research. Transcription: My name is Monica Gadelha. I am from Brazil. I work at the Federal University of Rio De Janeiro, and I also left The Brain State Institute of Rio De...
by CheckRare Staff | Jan 19, 2024
Mike Snape, PhD, chief scientific officer at AMO Pharma, talks about diagnosing myotonic dystrophy and its causes. Transcription: Just a little bit of background on myotonic dystrophy then. Myotonic dystrophy is a trinucleotide expansion repeat...
by CheckRare Staff | Jan 18, 2024
Dr. La Piana, MD, PhD, Professor in McGill’s Department of Neurology and Neurosurgery, explains her research in axonal spheroids and pigmented glia. Transcription: The disease-causing gene has been identified more or less 10 years ago. We are really at...
