Articles
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1 month ago |
onlinelibrary.wiley.com | Valentina Rizzo |Robin-Tobias Jauss |Tobias Bartolomaeus |María Escolar
MBOAT7 encephalopathy is a rare autosomal recessive cause of neurodevelopmental disorders and epilepsy. A gene-specific electroclinical syndrome remains to be characterized. The seizure semiology is heterogeneous, and one third of patients have treatment-resistant seizures. 1 INTRODUCTION The mammalian membrane-bound o-acyltransferase (MBOAT) protein family comprises several acyltransferases, and each of them has a unique preference toward specific acyl donors and acceptors.
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May 22, 2024 |
cgtlive.com | María Escolar
This is the second part of an interview with Maria Escolar, MD. For the first part, click here. “[W]e will be screening about 2 and a half million out of the 3 and a half million births in the United States... This is super important because the transplant only works when you're presymptomatic.”On January 30, 2024, Forge Biologics’ CEO and president, Timothy J.
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May 20, 2024 |
cgtlive.com | María Escolar
“[O]ne thing we have noticed is that the babies that are treated early with gene therapy are following the same trajectory in terms of brain myelination as normal babies.”Krabbe disease is a rare genetic disease resulting from a deficiency in the in the galactocerebrosidase (GALC) enzyme, which is responsible for breaking down psychosine. In the absence of GALC, psychosine builds up in the body and causes damage in both the central nervous system (CNS) and peripheral nervous system.
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Jul 22, 2023 |
cgtlive.com | María Escolar
Infantile Krabbe disease (IKD) is a rare genetic disorder that leads to deficiency in the galactocerebrosidase (GALC) enzyme and build up of its substrate psychosine. If left untreated, patients typically do not survive past 2 years of age because of demyelination caused by psychosine accumulation. The current standard of care for IKD is umbilical cord blood transplantation (UCBT).
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