Running Update:
Week of 1/30 23.9 mi 3:50:46
Week of 2/6 28.2 mi 4:42:51
Week of 2/13 27.9 mi 4:39:19
One
month until our first race of 2023—the New York City Half Marathon!
You
can always support us here: www.KRath4Jane.com
NF Update:
This year I’ve taken on another role in the effort end NF—I’ve joined the Board of Directors for Neurofibromatosis Northeast!
Neurofibromatosis Northeast (www.nfnortheast.org) is a regional organization whose purpose is to advocate, create awareness, promote research, and support patients and families living with NF. Its purview is New England, New York, New Jersey, and Pennsylvania. Its eloquent vision: A world where the burden of neurofibromatosis does not exist; and its equally eloquent mission statement: To bring hope to those affected by neurofibromatosis and allied disorders. One of the board members describes it as the local Mom and Pop counterpart to the national Children’s Tumor Foundation. These groups work in concert towards the common goal of improving the lives of people living with NF.
I first became acquainted with NF Northeast in 2014 while running the BostonMarathon for the Children’s Tumor Foundation, and went on to run that same race again in 2016, this time for NFNE. I hadn’t worked with NFNE again until I happened to connect with a NFNE board member who works right here at Yale: Dr Frank Buono, an Associate Research Scientist in the Department of Psychiatry. One of Dr Buono’s area of study is pain in individuals with NF, and he himself was diagnosed with neurofibromatosis type 2 (NF2) at the age of nine. It was Dr Buono who nominated me for the board.
I attended my first meeting of the Board of Directors of NF Northeast in Boston this week. NFNE had just given a grant to a Harvard PhD student who is working in a NF research lab at Massachusetts General Hospital. As a result, the board was invited to tour the lab, run by Dr Jim Walker (walkerlab.mgh.harvard.edu), which we did right before our meeting.
Some
quick background before I describe Dr Walker’s lab:
Neurofibromatosis type 1 (NF1) is a condition caused by a mutation in the gene which makes the protein neurofibromin. Neurofibromin is a regulatory protein found in all cells in the body, but it is particularly concentrated in Schwann cells—the cells that cover and support our nerves. The malfunction of neurofibromin in people with NF1 leads to the variety of tumors and medical complications seen in the condition.
When trying to test new therapies or drugs for NF, it’s hard to start out testing directly on humans (it could be dangerous, it would take a long time and require a lot of people as test subjects). Fruit flies, on the other hand, are plentiful and reproduce quickly. Dr Walker’s lab has grown fruit flies that have various NF1 mutations, and uses them to study the biology of NF1, to conduct genetic experiments, and to identify potential therapeutic targets in the gene.
For further investigation, Dr Walker’s group can then transfer
those same genetics to a culture of human Schwann cells. This helps the team to study and develop
therapeutics, such as gene editing, that could potentially be used in people
with NF1.
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| Can you believe the senior postdoctoral fellow in Dr Walker’s lab happens to be a woman I’ve known for years? Dr Stephanie Bouley and I have been part of the same virtual charity running club since 2016, but we had never met in person! |
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| Dr Bouley describing the Walker Lab in the Tissue Culture room |
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| Overview |
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| Like-minded people work here :) |
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The neurofibromin molecule. Over 3300 mutations have been identified in the gene for neurofibromin—any one of those mutations leads to a person having NF1. |
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| Dr Walker shows us fruit flies with NF1 in the Fly Room! |
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| Fruit flies under the microscope |
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| Fruit flies with NF are not visibly different—NF doesn’t cause tumors in the flies the way it does in humans—but it causes changes in their biology and their behavior. |
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| In this experiment, fruit flies are taught to move towards a certain odor and away from another. The fruit flies with NF1 mutations have more trouble with this task, just as people with NF1 can sometimes have learning difficulties. |
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| In this experiment, fruit flies’ sleep-wake cycle is monitored. Fruit flies with NF1 mutations have more disrupted sleep, just like some people with NF1. |
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| Francisco Fernandez is the PhD student who received the grant from NFNE. He told us that his motivation to enter medicine and research was to find a cure for his brother, who has NF1. (You can read more about this remarkable individual here, an article written before he came to Harvard.) |
This
whole experience brought me exactly the thing that NF Northeast strives to
provide to those affected by NF—it brought me HOPE! I am so grateful to researchers like Dr
Walker and his team for their work in helping us understand, and one day cure,
neurofibromatosis.
