Dr. Chris Jones, Emeritus Professor of Neurology, had just finished his Neurology training in the early 1980’s when he encountered an unusual patient. Her doctor had told her she had ‘insomnia in the morning, and narcolepsy at night.’ Dr. Jones realized that this was a rather implausible set of diagnoses, and thought there might be a single, unifying explanation: she was what is colloquially known as a ‘morning lark,’ both waking and falling asleep naturally, at very early hours. What was more, the patient mentioned she was not alone – several members of her large Utah family had the same characteristics, suggesting a ‘familial advanced sleep phase syndrome’ that might have a genetic cause. As luck would have it, right across the hall from him was Neurogeneticist Louis Ptacek. The rest, as they say, is history.
Over the years, Jones, Ptacek, and their colleagues have made multiple seminal discoveries about the genetics of sleep, and in doing so have helped understand how sleep itself works. Their research has been published in the most prestigious scientific journals, and it continues to this day, with the discovery of a gene associated with very short sleep (Neuron, April 2019). It has been a team science process from the beginning, with Jones identifying and characterizing the patients and their families, Ptacek performing the genetics work, and Ptacek’s collaborator Ying-Hui Fu using mice expressing the sleep genes to understand their mechanism.
Jones’ work with his first advanced sleep phase patient still stands out to him. It had been thought that since this kind of sleep variant didn’t make people overtly sick, it was a relatively minor issue. Nothing could be further from the truth. Jones remembers his patient in some distress because she barely saw her husband – she woke and went to bed hours before he did, and it is the beginning and the end of the day that most family interaction takes place. Other patients thanked him for finding the gene, because it gave a cause to their disorder – as one patient said: ‘my husband now understands that this is a medical condition, and not that I have lost attraction to him.’ These stories emphasize what social beings we are, and what havoc an off-cycle sleep pattern can wreak on our relationships.
Other memorable tales come from his most recent work. We have all heard of friends or colleagues who appear to need much less sleep than the rest of us, and seem to suffer no ill effects – indeed they are often intensely productive. These people really do sleep less: often about four to five and 1/2 hours a night, for years on end. And the sometimes incredibly difficult work they do suggests they cannot be significantly impaired. Jones gives the examples of a senior executive at a large outdoor company we are all familiar with, and a high-ranking military officer. The military officer managed life-and-death decisions on a daily basis, for years, during tours in Afghanistan. Even deciding whether to cross the road to attend a meeting with local dignitaries involved incredibly fine calculation, assessing the odds of being shot at or blown up by an improvised explosive device. That he survived, on as little sleep as he got, is testimony not only to good luck, but to highly developed insight and judgment. These characteristics are typically impaired in most people with long-term sleep deprivation, and they are severely impaired in people with mania (another condition where people go without much sleep for a long time), suggesting that ‘short sleepers’ really do get enough from their brief rests to function optimally.
Jones’ research has brought him in contact with people from all over the world, but a little-known fact is that the majority of his biggest breakthroughs have relied on families from Utah. It is not just the large size of many Utah families – though this is very important for isolating the genes – it is also the volunteerism and generosity of spirit that are so prevalent in our state. There are very few places on the planet that offer this combination of family size and friendliness to research. For the millions of people worldwide who suffer from sleep disorders, it is a happy coincidence that Dr. Jones chose Utah for his clinical and scientific career.