Updated: Feb 18
“I’m a very curious person,” says Veronica Pini, PhD student who stands just under five feet tall with long blond hair. Her Italian-accented English lilts as she tells her story. “I have always wanted to do a job related to the discovery of what’s unknown.”
As a rare disease researcher, Pini belongs to a small but elite community of biological explorers. A gift of a small microscope on her eighth birthday is part of what launched her on this path, but her unique story has also played a part.
“The story of my diagnosis is a bit tricky,” says Pini, who not only studies neuromuscular disease, but is also personally affected by it. She had normal developmental milestones early on, but her parents began to notice that she kept her head shifted to one side when seated, she walked with inwardly pointed feet, and she struggled to stand from a squatted position. They took her to the Neurological Institute Foundation Casimiro Mondino in Pavia, Italy.
Following a neurological assessment, muscle biopsy, and electromyography, doctors identified a dystrophic pattern with prominent weakness in her arms and legs. They diagnosed her with limb girdle muscular dystrophy. At the time, most of the causes of congenital muscular dystrophy (CMD), now known, were not yet characterized. Her diagnosis was reviewed again in early 2000, when her younger sister was diagnosed. In both girls, genes affected in limb girdle muscular dystrophies appeared to be normal, but variants causing an absence of the protein, merosin did show up in genetic testing. Their diagnosis then shifted to LAMA2-CMD, also known as Merosin Deficient CMD or MDC1A.
By this time, Veronica was clearly pursuing a scientific career, with the mindset that, “the human body is a perfectly designed machine of which we know a lot, but still there is a lot we can learn.” Veronica obtained her Bachelor of Science degree in Biotechnology, a Master of Science degree in Molecular Biology and Genetics, and was recently awarded her PhD from the University College London’s Dubowitz Neuromuscular Centre, Great Ormond Street Institute of Child Health. There, she has been working under the supervision of renowned researcher Professor Francesco Muntoni, and has explored the development of new gene therapy approaches for muscular dystrophies by using CRISPR/Cas9 technology and the identification of genetic modifiers that can modulate the clinical severity of Congenital Muscular Dystrophies. She is also a research assistant on a project aimed to identify pathogenic variants and/or novel disease-causing genes in undiagnosed patients with presumed congenital muscular dystrophy/myopathy.
We met with Pini and were able to chat for a while. A portion of the conversation is reflected below.
Cure CMD. How does your diagnosis affect your approach to the work?
Pini. When I first started working in the lab, I had to exercise my muscles to perform the fine movements behind the pipetting and the cell culture work, but I had the luck of finding supervisors who adopted simple tricks that eased my physical effort and allowed me to find my own way to be independent in the lab.
CCMD. What was a turning point in your work as a scientist?
Pini. Strangely it didn’t relate to my work in the lab, but to the contact with patients and their families that occurred during several conferences. I found myself in the unusual position of being both a scientist and a patient and, as that, being able to explain what’s happening behind the scenes in a non-technical way. That’s why in the future I would love to explain scientific research and processes to to a non-scientific audience.
CCMD. What are you working on currently? What are the discoveries that led to this work? Is there an analogy that would help us understand your work better?
Pini. Currently I am pursuing my PhD and my project aims to demonstrate the applicability of a particular tool able to modify DNA in treating duplications of the Duchenne Muscular Dystrophy-causing dystrophin gene. Conventional approaches do not provide a permanent correction of the mutated gene region, and currently, an approach that can be universally applied to every mutation does not exist. This editing tool is called CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats), and can be thought of as a sewing kit: We can think about our DNA as a fabric wherein the mutation is represented by a defective stitch that can either shrink or loosen the cloth’s texture. CRISPR/Cas9 is able to recognize that specific stitch by means of a peculiar pin that utilizes a scissor, called Cas9, to remove it and restore the fabric.
CCMD. What are you most excited about in regards to your work? Do you have any thoughts about the future of CMD research?
Pini. I am constantly fascinated by the opportunity to conceive and prove hypotheses that try to explain as-yet-unknown molecular mechanisms, but my biggest excitement comes from the ultimate goal behind all this: Knowing that some little discovery in the future might be beneficial to someone. In the last couple years, the CMD field has achieved a lot. I hope that even more research groups will invest in projects designed to improve the quality of life for affected individuals, and I have faith that in the future we will be able to access new therapies to mitigate the genetic defects.
CCMD. Did you ever have an outcome from a project that completely surprised you?
Pini. Yes, as I’ve pursued my PhD, I often got results that I did not expect. It wasn’t always positive, but this is the way research is. In a way, I think it helps me appreciate every positive result, even if in the moment it may not appear relevant to the project.
CCMD. What makes you get up in the morning?
Pini. Apart from coffee? ☺ The will to discover what the new day has to offer and to face the challenges that my work constantly offers.
CCMD. Do you have hobbies or things you like to do in your free time?
Pini. As a scientist, I used to dedicate most of my time to activities that involved critical thinking and did not leave much space to creativity. That’s probably why, now, my main hobbies are more artistic. I relax by painting or drawing, but my relief valve is music! I am constantly listening to it and whenever I am stressed there’s nothing like singing or playing guitar to calm me down.
CCMD. Do you have advice for newly diagnosed affected individuals and/or their families?
Pini. Living with a disability is not always easy, but it’s still life worth being lived. There are days in which us patients (and our families) feel invincible and are so proud of our little successes, and other days when we wish we would have had a different destiny… but, in spite of our diagnosis, we are human beings able to live, feel, love and be loved with the same intensity as everyone else.
I feel a general positive attitude can open doors that we would have otherwise closed forever, and can help us to enjoy every single day and give voice to our hopes and dreams, as everyone deserves. We will always have to live with our conditions, but this will never define who we are. We are much more than what comes out of a defective gene, and we are not alone in this fight: In addition to our families, scientists are working hard to make our lives better. Our battle is theirs too!
We are thrilled to have had the pleasure of speaking with Ms. Pini, who also says she hopes her “little” contribution to the field of muscular dystrophy will somehow support affected people and their families. We think she has already contributed much to our community!
Earlier this year, Cure CMD granted $25,000 to Dr. Francesco Muntoni’s research group, for which Ms. Pini is a primary researcher, for the project “The Role of Modifier Genes in a Mild MDC1A Case Associated with a Loss of Function Mutation.” We look forward to sharing updates about this project with the community as they are available.