COVID-19 and Those Served By the Mission of NINDS

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The past two weeks have been very challenging for the whole world. A virus, a variation so new that none of us has immunity to it, has been infecting substantial fractions of the population and leading to the deaths of many people around the globe. We have learned new words, phrases, and abbreviations such as “COVID-19”, “social distancing”, and “PPE.” And we have put healthcare, facilities, and information technology professionals to the toughest test there is—one that puts their lives and lifestyles at risk to potentially save those of others.

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What exactly is “gene therapy”?

In recognition of Rare Disease Day, I thought I would spend some time discussing one of the promising avenues of treating rare diseases: gene therapy. You can learn more about NINDS efforts to address rare diseases from today’s post from NINDS Director Walter Koroshetz on his blog.

These days, you can hardly pick up a newspaper or listen to a radio without hearing something about gene therapy. Once the realm of science fiction, treatments that modify genetic material or its regulation are becoming a reality even as they are largely still experimental. But what is gene therapy; how do we separate the science from the myth; and what’s the big deal that prevents its being available to everyone who might benefit from it?

The term “gene therapy” refers primarily to three different kinds of treatments: treatment with sequences of genetic material called “antisense oligonucleotides”; insertion of a new gene into cells; and the editing of the genes that are already there. Each of these has their own potential applications and diseases and conditions for which they have been proposed as treatment. Each has different risks and side effects, some of which are yet unknown because they are largely experimental therapies. I will discuss each in turn.

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What Is the NINDS and What Does It Do?

The National Institute of Neurological Disorders and Stroke or NINDS is one of 27 institutes that comprise the National Institutes of Health or NIH.  The NINDS and its parent body, the NIH, work to support biomedical research with the goal of improving human health and understanding the science that underlies it.  In the case of the NINDS, this research is focused on improving nervous system (brain, spinal cord, and nerves of the body) health and decreasing the burden of nervous system illness.  But the devil is always in the details, and here in the first of a series of posts about NINDS, I will give you a sense of how, through their day-to-day activities, NINDS and the other institutes of the NIH accomplish such a lofty and voluminous goal.

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Pioneer Mentors

In addition to this post, I recently co-wrote about the importance of recruiting and retaining women in the field of neurology in an editorial published in the journal Neurology*

Although it hurts me to admit it, I am what the New York Times would call “a woman of a certain age”.  As such, I was mentored and nurtured as a scientist and physician largely by men, almost all of them white and almost all of them much senior to me.  This was not at all a bad thing.  It was as it was then and I was grateful for their guidance and vote of confidence.  Indeed, these men were, themselves, outliers and pioneers – men who welcomed a woman as a trainee and then colleague were not particularly common in science and medicine in the 1970s.  But there were two remarkable women who did take me under their wings and usher me into science and medicine with a woman’s approach.  These women – Sofia Simmonds, Ph.D. and Maria New, M.D. – were neither perfect nor doing exactly what I wanted to do.  But they fueled my passion for intellectual pursuit and alleviation of human suffering and showed me I did not have to become someone or something else to be a part of that world.  Here are their stories.

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Migraines—more than just a headache

If you have ever had one, you know that migraines are often not typical, run-of-the-mill headaches. They cause intense throbbing pain, and can bring on nausea/vomiting, sensitivity to light and sound, and numbness and tingling in arms and legs. Even worse, these symptoms can last a few hours or up to three days in adults.

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It is not just adults who suffer from these horrible headaches—studies have shown that 10% of children between the ages of 5 and 15 have migraines. And that number jumps for older kids: up to 28% of children between 15 and 19 experience migraines. When I worked in the pediatric neurology clinic, complaints related to migraines were one of the most common things I saw. And because around 90% of migraines are hereditary, the parents often had an idea of what was going on and could sympathize with their kids.

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