Dr Lucy Norcliffe-Kaufmann is an Associate Professor in the Department of Neurology at New York University (NYU). Lucy reflects on the importance of working with advocacy groups, how she balances work, life and family, and her hopes for the future of her research into improving treatments for Familial Dysautonomia (FD).
Tell us about your BHF-funded PhD research at the University of Leeds.
I applied to do a PhD with Professor Roger Hainsworth. He had a stipend from the BHF to support his final PhD student before retirement. We looked at the mechanisms involved in controlling blood supply to the brain in frequent fainters and the role of respiration. I became particularly interested in the neural connections involved in hemodynamic regulation.
Our data came from an outpatient autonomic clinic we ran at the Leeds General Infirmary. My job was to work with patients; we’d observe and interview them, record their physiological signals during a tilt table test, and try to apply what we learnt to diagnose and better understand clinical disorders. I remember Professor Hainsworth had this encyclopaedic knowledge of cardiovascular autonomic reflexes and knew all the receptors. He was an inspiring mentor, he taught us what was known, but was hands off enough so we had the freedom to explore new concepts. Professor Hainsworth also taught me that anything is possible. At one point we transported the entire autonomic laboratory to the Andean Mountains to study chronic mountain sickness in Peruvian miners.
What was the next step in your career?
I met my husband at a conference on the Autonomic Nervous System. He was living in New York and running an Autonomic Unit. After I finished my PhD, I moved with my rescued greyhound to New York City. It was quite different from Leeds! I worked as the Managing Editor for Clinical Autonomic Research. This gave me this extraordinary opportunity to understand the world of scientific publications from the inside. But I soon realized it was more fun to write my own papers.
In what ways is the research landscape different in America?
Actually, I still use the principals I learnt as a PhD student. After a year in New York City, my husband and I took over the Dysautonomia Center at New York University. I still run the clinical autonomic laboratory, but now I work with patients that have rare diseases that affect the autonomic nervous system in different ways. I’ve spent the last 12 years understanding how specific lesions in the autonomic pathways affect the control of heart rate and blood pressure.
What were the biggest challenges that you faced when you moved?
The biggest challenges have been finding ways to balance work, family, and life. Clinical research can be very demanding, and there can be a lot of paperwork that keeps you from doing actual research. I have to remind myself not to feel guilty if I’m taking time out to run, swim or see my kids. I learnt this at a time management seminar I went to at the NIH’s Rare Disease Scholars Program.
Tell us about your research into improving treatment for familial dysautonomia (FD).
At NYU, I started working with a group of patients that have a congenital neuropathy that affects the development of the sensory nerves. It’s caused by a recessive genetic mutation carried by Ashkenazi (European) Jews. The patients have no way of controlling their blood pressure and go into hypertensive crisis when stressed or ill. The first project I did was to understand why their blood pressure fluctuates so wildly. We discovered these children are born without the sensory arm of the baroreflex and as a consequence they cannot receive afferent information from the baroreceptors. It seems so obvious now, but it changed the way we think about and treat FD. We got funded by the FDA’s Orphan Product Development Program to develop ways to pharmacologically blunt the surges in blood pressure.
Can you tell us more about FD Day, and the significance of being involved in initiatives like this?
I work very closely with the Familial Dysautonomia Foundation, which is the largest advocacy group serving patients with FD, who support the Dysautonomia Center. It’s important for the families to know how our research findings relate to them. With the Foundation, we invite all the families with familial dysautonomia to NYU, present the research progress in the last 12 months, explain what this means in terms of clinical care, and give the families the opportunity to respond and ask questions. I organise a photography competition for the patients with familial dysautonomia called the “World Through my Eyes” and reveal the winners at FD Day. It’s very impactful to see how the patients themselves tell their stories through photographs. Then at the end we take all the adult patients out to sing karaoke.
What are your hopes and plans for the future?
My hopes are that I continue to enjoy my work and help with the development of new therapies. I’m collaborating with researchers in many different disciplines including genetics, cardiology, nephrology, pathology, and neurology, which makes my work fast-paced and keeps me learning. I’m working on potential genetic therapies in familial dysautonomia and the hope is that we can stop or delay the neurodegenerative aspects of the disease.
What advice would you give to your PhD-student self?
My advice would be to not worry that I know so little. My knowledge will grow, and the unknowns may give me a potential research question to ask. As a woman in science, it was important for me to find a strong supportive circle of professional women that can share in my successes and struggles. My circle of successful female friends is there to offer advice, emotional support, and a pat on the back when something good happens. My final piece of advice, would be that exercise does wonders for the mind. It’s okay to take care of myself, and sometimes when I am running or swimming, I come up with new ideas on how to interpret data.
How do you look back on your time being funded by the BHF?
I’m really grateful for the BHF for giving the opportunity to study with Professor Hainsworth. Those years made a big impression on me and gave me a wonderful foundation in cardiovascular research. When it comes to rare diseases, we achieve more if we collaborate, so I’m really pleased to see there’s now an alumni programme to help researchers connect across the world. I’m still connected with many of the autonomic scientists that I met during the years I did my BHF-funded PhD.
Find out more
Dr Lucy Norcliffe-Kaufmann at New York University (NYU)
NYU Langone Health on Twitter
Clinical Autonomic Research
Dysautonomia Center at NYU
National Institutes of Health
FDA's Orphan Product Development Program
Familial Dysautonomia Foundation
With special thanks to Rick Guidotti from Positive Exposure for the photographs.