The Power of Touch

There are few things more comforting than a hug, more encouraging than a pat on the shoulder or as relaxing as a gentle caress. Touch is magic – light as a feather yet effective; invisible yet perceptible. Long before people are able to hear or see, they can feel – for the tactile sense is the first sense that develops inside the uterus. “It is the sense of touch that allows the very first interpersonal exchange, and one could go so far as to say that social development begins with touch”, says Lauren Orefice. Sensations are essential, just like the air we breathe. “Touch is absolutely critical for normal brain development and also for social behavior.” This is exactly why touch made its way into Lauren’s scientific heart.

In the beginning, it was mere curiosity and enthusiasm that enticed the American, who was raised in New Jersey, to study Biology at Boston College. A research career was definitely not on the horizon at the time. Only after she transferred to Georgetown University to pursue her PhD in neuroscience, did it become clear that she would be the first in her large family to choose a scientific career path.

Physical contact as a threat

For her postdoc, Lauren Orefice joined the laboratory of Dr. David Ginty at Harvard Medical School, the very same institution where today, at barely 35, she leads her own research lab. Within the Department of Genetics, she studies the development, the function and the weaknesses of somatosensory circuits. These circuits encompass the wiring which instructs the tactile sense as well as perceptions. Lauren wants to uncover the influence that the tactile sense has on autism spectrum disorders (ASD). While most humans instinctively yearn for touch, physical contact is experienced as unpleasant, threatening, and even painful, by many people with autism.

“A marked change in sensitivity to sensory stimulation is a symptom that is frequently overlooked but very common among patients with ASD“, explains the scientist. Approximately 85 percent of patients react in an extremely sensitive way to even the lightest touch. Simply brushing against another person in a crowded store may be torture for someone with autism. Some people experience a gust of wind as burning and heavy rain as painful; even a haircut may be difficult to endure. These are the realities that drive the researcher. It is her goal to make a contribution towards making autism spectrum disorders more amenable to treatment. It is to this end that she ponders a project hour upon hour, that she observes neurons engaged in networking – and that she discovers, uncovers, analyzes and evaluates them.

Dampening overreaction

This was how Lauren and her team were able to correct decades-old ideas about the causes of ASD. They were able to prove that autism spectrum disorders are not caused exclusively by aberrant brain function, as previously assumed. In fact, peripheral somatosensory neurons – those nerve cells outside the brain which control the sense of touch – also play a critical role. In experiments involving mice, the scientist was able to show that these touch neurons are impaired in certain manifestations of ASD and thus lead to altered sensory behavior.
True to her life philosophy “there’s more to it”, Lauren has simultaneously pulled a therapeutic approach out of her scientific hat. It takes the shape of the compound Isoguvacine. The experimental compound which to date is only approved for use in clinical trials, is capable of reducing the activity of sensory neurons and thus dampen excessive reactions.

A masterpiece achievement

Lauren modestly describes her work as “hopeful”, as a “possible therapeutic path to treat specific features of autism.” At the same time, her work has inspired the scientific community. Professor Mark Wallace of Vanderbilt University in Nashville, Tennessee, was among those who praised her work: “This study is a technological masterpiece.” The Eppendorf AG honored the work by presenting Lauren Orefice with the Eppendorf & Science Prize for Neurobiology, worth $25,000.

Lauren’s life revolves around her lab. If she is not physically present, she is thinking about it. She can hardly suppress a smile as she recounts: “Having a smartphone is helpful if you come up with an experiment idea while in the grocery store.” She likes to enjoy life, even at work: in the fall, the lab held a pumpkin carving challenge; in January, the lab celebrated its first birthday, labiversary, and on Wednesday nights, everyone gathers “pretty regularly for wine and cheese Wednesday”.

Research thrives on humor

It is no wonder that occasionally there is not enough time for her husband – but he understands his wife’s ceaseless scientific curiosity and her love for the lab. After all, a neuroscientist himself, he is equally electrified by the miraculous world of the nervous system. Together, they share their love for Pippa: “She’s adorable, extremely loving, and keeps us very busy”, Lauren says about her female Staffordshire terrier, who entertains her on hikes and walks in her spare time.

Where can the researcher still clear her head? “I have recently started taking ballet lessons again as a different way of expressing myself creatively. A good cup of tea and a phone call to my family works wonders too.” Support from the family is just as important for her work as curiosity, creativity and perseverance. Oh, yes, “and a good sense of humor” – as a researcher, you could always use a pinch of that.

www.oreficelab.org