Alagille Syndrome Archives - Sanford Burnham Prebys
Institute News

Meet molecular biologist Jonatan Matalonga-Borrel

AuthorMonica May
Date

February 3, 2021

Matalonga-Borrel is on the hunt for a treatment that could help children born with a rare, life-threatening condition

Thanks to the sequencing of the human genome, scientists have helped parents get answers to the cause of mysterious conditions that have affected their children. Now, researchers are tackling a new challenge: translating this knowledge into life-altering medicines.

Molecular biologist Jonatan Matalonga-Borrel, PhD, a postdoctoral researcher in the Dong lab at Sanford Burnham Prebys, is at the forefront of this effort. We caught up with Matalonga-Borrel as he prepares to take the virtual stage at DASL (the Diversity and Science Lecture Series at UC San Diego) to learn more about his work and his interests outside of the lab.

Did you always know you wanted to be a scientist?
I actually wanted to be an airplane pilot until my senior year of high school. But during the application process, I learned that I have very mild color-blindness, so I had to quickly decide what I wanted to do next. I pivoted to biology, a topic where I had some interest, thinking I would become a teacher. Then, when I was in college, I got the opportunity to complete a lab internship, which is where I discovered my passion for research. I would have never guessed that I would be where I am today, leading a project that might directly help families and children.

What do you study, and what is your greatest hope for your research?
I study Alagille syndrome, a rare disease that affects kids from the day they are born. Many organs are affected, especially the heart and the liver, and almost half of these children die before the age of 19.

Luckily, Alagille syndrome is associated with mutations in only two genes, both belonging to the same pathway, called Notch. This makes our goal easier to achieve: identify drugs that target Notch, which currently don’t exist. I’m excited that we’ve identified a promising option. My greatest hope is to create a medicine that truly helps these children and their families, who currently live without any treatment.

When you aren’t working in the lab, where can you be found?
You will likely find me playing golf at Torrey Pines! There is nothing like playing a twilight round, feeling a slight breeze and looking at the immensity of the Pacific Ocean. With that said, since I became a father, my golfing time has been severely impaired. Now it’s most likely that you’ll find me at home, entertained by the early stages of development of my son…and changing a lot of diapers!

What do you wish people knew about science?
How patient one has to be to move science forward. It can take weeks—or months—of trial and error until a big breakthrough happens.

We live in a world that seems to spin faster and faster. It is critical for our society to understand that proper science is not about rushing experiments. It is about setting the right ones.

How do you think your lab colleagues would describe you?
Upbeat, reliable and organized (hopefully!).

How has the pandemic affected your life?
I had my first baby last June, and the pandemic prevented any relatives to come from our home country, Spain, and meet their first grandchild. Thankfully, we had Skype to get in touch. Looking on the bright side, daycares have never been so clean, and the rate of sickness around kids has dropped significantly!

What is the best career advice you have ever received?

“Have fun and make friends,” from Dr. Eduardo Chini of the Mayo Clinic. It is possible to do great science and have fun—don’t feel guilty about it. My best collaborations came from my greatest friendships among colleagues.

What do you wish people knew about Sanford Burnham Prebys?
It’s an amazing community. Science moves forward thanks to communication and collaboration and it wouldn’t happen without a strong sense of community. This includes wise faculty members who train graduate students and postdocs, an Office of Education and International Services that offers year-round seminars and workshops, and a group I am part of, called SBP-Social Network (SBP-SN), which organizes fun social and scientific events. All of this creates a place where scientific excellence thrives.

Institute News

Duc Dong honored at Alagille Syndrome Alliance Gala

AuthorSusan Gammon
Date

July 10, 2018

Associate Professor Duc Dong, PhD, was the guest of honor at the Gala of Dreams, the inaugural fundraiser for the Alagille Syndrome Alliance held June 30 at the San Diego Marriott Del Mar. Dong is a trailblazer in the field of Alagille syndrome research—he is working toward a cure for the extremely rare genetic condition that affects approximately one in 30,000 births.

Babies born with Alagille syndrome have too few bile ducts—which are essential for the transport of waste out of the liver. This causes toxins build up in the liver and throughout the body, leading to constant severe itching, and more critically, liver damage and failure. Alagille syndrome patients also have many other life-threatening developmental defects in other parts of their bodies, including the heart, kidneys, vertebrae, and blood vessels. There is no cure for this debilitating disease, and up to 50 percent of patients eventually need a liver transplant, often during childhood.

Dong and his team have been studying JAGGED1, the gene implicated in Alagille syndrome. Taking advantage of an unusual animal model, the zebrafish, he has been able to uncover a novel genetic mechanism for the disease—opening new potential therapeutic avenues. Further, his team has surprisingly discovered that the bile ducts lost can be regenerated after turning the affected gene back “on.”

“The implication is that these developmental defects in Alagille syndrome patients could potentially be reversible and therefore curable,” says Dong. “We will now start screening for drugs that may be used to restore the function of this genetic pathway and hopefully allow for these lost bile ducts to regenerate. We will continue to challenge the science of Alagille syndrome to move closer to a cure.”

The theme of the event, “The Dawn of a Dream,” signified new advances in Alagille syndrome research and the anniversary of the organization’s 25th year in existence. The evening gave advocates, families, doctors and pharma representatives an opportunity to interact in a fun, casual setting and participate in a silent auction to raise money for research. Dong’s lab was presented with the Champion of Alagille Syndrome Award and funds raised by the Alliance through crowd sourcing.