Genomics plus human intelligence

The power of gene sequencing to solve puzzles when combined with human Read more

'Master key' microRNA has links to both ASD and schizophrenia

Recent studies of complex brain disorders such as schizophrenia and autism spectrum disorder (ASD) have identified a few "master keys," risk genes that sit at the center of a network of genes important for brain function. Researchers at Emory and the Chinese Academy of Sciences have created mice partially lacking one of those master keys, called MIR-137, and have used them to identify an angle on potential treatments for ASD. The results were published this Read more

Shape-shifting RNA regulates viral sensor

OAS senses double-stranded RNA: the form that viral genetic material often takes. Its regulator is also Read more

sleep disorders

The time Anna stayed up all night

Almost precisely a decade ago, a young Atlanta lawyer named Anna was returning to work, after being treated for an extraordinary sleep disorder. Her story has been told here at Emory and by national media outlets.

Fast forward a decade to Idiopathic Hypersomnia Awareness Week 2018 (September 3-9), organized by Hypersomnolence Australia. What this post deals with is essentially the correction of a date at the tail end of Anna’s story, but one with long-term implications for many people with difficult-to-treat sleep disorders.

In the summer of 2008, Anna Sumner (now Pieschel) was planning on getting back to her life and career. A few years before, she had been diagnosed with a condition with a frustrating name: idiopathic hypersomnia. It means “she sleeps a lot and we don’t know why.”

Neurologist David Rye and nurse practitioner Kathy Parker had treated Anna first with conventional stimulants, which were spectacularly unsatisfactory. See this 2013 Emory Medicine story for details. Parker and Rye eventually landed on something less conventional: flumazenil, an antidote for sedatives that was scarce and difficult to administer. After wrangling with the FDA and with flumazenil’s manufacturer, a longer-term solution came into view. At that time, Anna was unique: the only person taking flumazenil chronically for a sleep disorder.

Then she developed bronchitis. She lost her voice, which was a problem for someone whose professional role sometimes takes her to court. To treat her bronchitis, Anna’s internist had prescribed the antibiotic clarithromycin, known commercially as Biaxin. After taking it, she developed insomnia and couldn’t sleep for three days. She left frantic messages for neurologist Lynn Marie Trotti, who had become her main sleep specialist.

“This had never happened to me before,” she recalled recently. “I was concerned that it was some bizarre individual reaction to the medication.”

In our original Emory Medicine story, this event was described as taking place in 2010. That date was incorrect.  Read more

Posted on by Quinn Eastman in Neuro Leave a comment

Gabbing about GABA — implications for hypersomnia treatments

Anesthesiologist Paul Garcia and his colleagues are presenting two posters at the Society of Neuroscience meeting this week, whose findings may raise concerns about two non-stimulant drugs Emory sleep specialists have studied for the treatment of hypersomnia: flumazenil and clarithromycin.

For both, the data is in vitro only, so caution is in order and more investigation may be needed.

With flumazenil, Garcia and colleagues found that when neurons are exposed to a low dose for 24 hours, the cells increase expression of some GABA receptor forms.

This could be part of a mechanism for tolerance. I heard some anecdotes describing how flumazenil’s wake-promoting effects wear off over time at the Hypersomnia Foundation conference in July, but it’s not clear how common the phenomenon is.

Flumazenil’s utility in hypersomnia became known after the pioneering experience of Anna Sumner, who has reported being able to use the medicine for years. See this 2013 story in Emory Medicine. Read more

Posted on by Quinn Eastman in Neuro Leave a comment

Hypersomnia update: beyond subject one

It’s not sleep apnea. It’s not narcolepsy. Hypersomnia is a different kind of sleep disorder. There’s even an “apples and oranges” T-shirt (see below) that makes that point.

This weekend, your correspondent attended a patient-organized Living with Hypersomnia conference. One of the main purposes of the conference was to update sufferers and supporters on the state of research at Emory and elsewhere, but there was also a lot of community building — hence the T-shirts.

The story of how sleep took over one young lawyer’s life, and how her life was then transformed by flumazenil, a scarce antidote to sleeping pills she was not taking, has received plenty of attention.

Now an increasing number of people are emerging who have a condition similar to Anna Sumner’s, and several questions need answers. Read more

Posted on by Quinn Eastman in Neuro 6 Comments