This is a continuation of the post from last week on the early-onset epilepsy patient, whom doctors were able to devise an individualized treatment for. The treatment was based on Emory research on the molecular effects of a mutation in the patientâ€™s GRIN2A gene, discovered through whole exome sequencing.*
For this patient, investigators were able to find the Ray Ban Baratas cause for a previously difficult to diagnose case, and then use a medication usually used for Alzheimerâ€™s disease (memantine) to reduce his seizure frequency.
Last week, I posed the question: how often do we move from a disease-causing mutation to tailored treatment? Read more
Peng Jin and collaborators led by Da-Hua Chen from the Institute of Zoology, Chinese Academy of Sciences have a new paper in Stem Cell Reports. They describe a souped-up method for producing iPS cells (induced pluripotent stem cells).
Production of iPS cells in the laboratory is becoming more widespread. Many investigators, including those at Emory, are using the technology to establish â€œdisease in a dishâ€ models and derive iPS cells from patient donations, turning them into tools for personalized medicine research.
Stephen Traynelis, PhD and Hongjie Yuan, MD, PhD
How often can doctors go from encountering a patient with a mysterious disease, to finding a mutation in a gene that causes that disease, to developing a treatment crafted for that mutation?
This is true personalized molecular medicine, but itâ€™s quite rare.
How rare this is, Iâ€™d like to explore more, but first I should explain the basics.
At Emory, Stephen Traynelis and Hongjie Yuan have been working with Tyler Pierson, David Adams, William Gahl, Cornelius Boerkoel and doctors at the National Institutes of Healthâ€™s Undiagnosed Diseases Program (UDP) to investigate the effects of mutations in the GRIN2A gene.
Their report on the molecular effects of one such mutation, which caused early-onset epilepsy and intractable seizures in a UDP patient, was recently published in Nature Communications.
With that information in hand, UDP investigators were able to repurpose an Alzheimerâ€™s medication as an anticonvulsant that was effective in reducing seizure frequency in that patient. [The details on that are still unpublished but coming soon.]
Just a note for Atlanta-area readers about two interesting lecture series.
One is the Suddath Symposium, a two-day event today and Friday at Georgia Tech focusing on DNA repair in human disease.Â This is an area that Emory is strong in: Gray Crouse, Paul Doetsch, Willian Dynan and Gang Bao are speaking (all on Friday).
Another is a series of talks from Emory investigators on http://www.raybani.com/ complex neurological diseases, being put on by the Department of Cell Biology.Â Four, one a week (originally), all on Wednesdays at 4 pm in Whitehead 400.
Yesterday: Peter Wenner (homeostatic mechanisms/scaling). Feb. 26: Shannon Gourley (stress hormones/distorted decision-making/depression). March 5: Andrew Escayg (sodium channels/inherited epilepsy).Â Kerry Ressler (fear learning/PTSD) was supposed to be last week but that was derailed by ice. So Ressler will speak Â on May 21, according to organizer Victor Faundez, who chose Picasso’s Guernica as the visual theme.
This intriguing research has received plenty of attention, Â both when it was presented at the Society of Neuroscience meeting in the fall and then when the results were published in Nature Neuroscience.
The short summary is: researchers at Yerkes National Primate Research Center found that when a mouse learns to become afraid of a certain odor, his or her pups will be more Gafas Ray Ban Baratas sensitive to that odor, even though the pups have never encountered it.Â Both the parent mouse and pups have more space in the smell-processing part of their brains, called the olfactory bulb, devoted to the odor to which they are sensitive.
[Note: a feature on a similar phenomenon, transgenerational inheritance