Trainee Paper Spotlight: Nicoli

Trainee Paper Spotlight: September 2019


Nicoli

Trainee Author: Raluca Nicoli, Pharm, PhD
Postdoctoral Researcher
National Human Genome Research Institute
National Institutes of Health
(Photo courtesy Nicoli)

Nicoli E, et al. Lysosomal storage and albinism due to effects of a de novo CLCN7 variant on lysosomal acidification. 2019 June 6;104(6)



This month’s Trainee Paper Spotlight article is a prime example of going from patient to mechanism. Nicoli and colleagues identified a SNV in CLCN7 likely to be the cause of lysosomal functional phenotypes in two separate children. Using a battery of assays, including in cellulo patient fibroblasts models and an in vivo CRISPR-generated mouse model, they demonstrated that this variant causes a dominant, gain-of-function mutation that recapitulates the phenotypes observed in the patients. Finally, hyperacidity in the fibroblasts was reversible with the use of chloroquine, an alkalinizing agent.

Training & Development Committee: Could you describe your research for us?

Dr. Nicoli: My research focuses on lysosomal storage diseases (LSDs) and therapeutic interventions to improve patient symptoms. I’ve worked on Niemann-Pick type 1, Chediak-Higashi Syndrome, and Gangliosidoses, in addition to studying patients with ultra-rare, novel, and undiagnosed diseases. My ultimate goal is to find therapies to treat these syndromes, with one example being the recent success we’ve had using chloroquine to lessen disease severity in patients.

TDC: What are your career goals?

Dr. Nicoli: I hope to have the opportunity to conduct cutting-edge research and to be able to utilize my scientific insight to improve patient outcomes and quality of life. I am exceptionally hardworking, diligent, and dedicated, and I am focused on developing skills, contacts, and research expertise that will position me well to eventually run a team of researchers or my own research group or academic laboratory.

TDC: Why did you choose genetics as your field of study?

Dr. Nicoli: I believe genetics sits at the base of every human disease and is critical to understand in order to advance precision medicine therapeutic approaches. One of the main challenges in lysosomal disease research is navigating the variability in phenotypic expression of these rare diseases. I believe that the advances made in this regard will improve therapies and outcomes for affected patients.

TDC: If you could pick three words that describe yourself, what would they be?

Dr. Nicoli: Perseverant, adaptable and teamwork.



Twitter: @RalucaNicoli


The Trainee Paper Spotlight highlights outstanding papers written by trainee members of ASHG. Submit your science to be featured, and join the ASHG Trainee Forum to keep up with new ones.