New insights into the molecular mechanisms underlying Gaucher disease

A study by Yale scientists provides new hope for individuals with Gaucher disease (GD), rare diseases and Parkinson’s.

Dr Pramod Mistry and his team of scientists, including Shiny Nair, a research scientist at Yale School of Medicine, recently conducted a study that provides insights that could lead to new treatment and care options for individuals with Gaucher Disease.

This breakthrough research studied forms of Gaucher Disease that cause neurodegeneration (nGD) and sheds new light on the implications for individuals with rare diseases and those with more common ailments such as Parkinson’s.

“Applying single-cell technology, immune profiling and lipidomics to Gaucher brains, we found early events can be monitored by newly discovered blood biomarkers of nGD before the onset of noticeable neurological disease,” Dr Pramod Mistry said.

You can read the published research article in elife, which provides further details and insights into the molecular mechanisms underlying Gaucher Disease. In the meantime, to learn more about this story by Yale School of Medicine, click below.