congenital heart disease Archives - Sanford Burnham Prebys
Institute News

Sanford Burnham Prebys graduate student selected for prestigious Women in Science scholarship

AuthorMiles Martin
Date

June 20, 2023

Katya Marchetti has had her heart set on research since childhood. Today, she’s a bright, confident scientist making her dream a reality at Sanford Burnham Prebys.

Katya Marchetti, a first-year PhD student in the lab of Karen Ocorr, PhD, was recently awarded an Association for Women in Science (AWIS) scholarship. This competitive award encourages outstanding women pursuing degrees in science, technology, engineering and mathematics (STEM) fields at San Diego colleges and universities.

“Receiving this recognition highlights the importance of advocating for women’s empowerment in STEM and fostering an inclusive and diverse scientific community,” says Marchetti.

Marchetti grew up in Bakersfield California and finished her undergraduate degree from UC San Diego in just three years. Last year, she enrolled as a graduate student at 21 years old, making her one of the youngest PhD students to ever join the Institute. For her, the AWIS award is a culmination of a lifelong enthusiasm for science, inspired and encouraged by her family.

“I’m a very curious person,” says Marchetti. “I just inherently have to know how everything works, and my dad is the one got me inspired and interested in exploring things. I am so grateful for the opportunities that he fought for me to have, because he gave me everything that he didn’t.”

With the enthusiastic support of her family, Marchetti began her research career at the ripe age of nine years old. 

“My first-ever science project was heart research,” she says. “My favorite song was “Kickstart My Heart” by Mötley Crüe, and I wanted to see if it would raise blood pressure. I tested myself and my family, and we actually found that it did, obviously.” 

Today, Marchetti’s heart research is a bit more sophisticated. She studies hypoplastic left heart syndrome (HLHS), a rare disease in which the left side of the heart is underdeveloped and unable to effectively pump oxygenated blood to the rest of the body. HLHS is a congenital disease that is nearly always fatal without heart surgery. Marchetti’s research focuses on uncovering the genetics that underpin this disease to find new ways to prevent and treat it.

“Researching heart disease is very rewarding in and of itself, but it’s also really motivating to work on a disease that occurs in one of the most vulnerable populations,” says Marchetti. 

Marchetti is also heavily involved on campus at the Institute, as one of just two graduate students to serve on the Institute’s Education and Training committee, part of the Institute’s Diversity Equity and Inclusion Council. She has also mentored interns for the Institute’s CIRM-sponsored SPARK program, which provides research experiences to high school students from underrepresented backgrounds.

“I really love mentoring people who don’t have a lot of lab experience,” says Marchetti. “It’s my favorite thing I’ve done in graduate school so far. I think that’s kind of my way of paying forward the opportunities that I’ve had.” 

Marchetti will use the funds from the AWIS scholarship to further support her HLHS research. She also maintains that even after finishing her PhD, her long-term goal is to continue working in the San Diego research community. 

“If were to describe myself as a city, it would be San Diego,” she says. “It’s really the perfect place for me.” 

Institute News

Graduate student awarded American Heart Association Fellowship

AuthorSusan Gammon
Date

April 14, 2021

The heart is the core of life, and for PhD graduate student Katja Birker, it’s the foundation for the beginning of a career.

Birker recently received a prestigious predoctoral fellowship from the American Heart Association (AHA) to continue her research on hypoplastic left heart syndrome (HLHS), a congenital heart disease that affects between two and four of every 10,000 babies born. As of today, the only cure for HLHS is three open-heart surgeries that begin two weeks after birth.

“I’m very grateful to the AHA for supporting my research,” says Birker. “I’ve embarked on a career to study the genes that contribute to HLHS, and this award will help me continue my work that may eventually lead to targeted prevention of HLHS as well as other congenital heart diseases.”

Birker is collaborating with the Mayo Clinic to identify and test whether genes found in HLHS patients—or “candidate” genes—have similar consequences in the hearts of fruit flies—a model organism for cardiovascular research. The research aims to identify novel gene functions and pathways that are likely to contribute to HLHS.

“Many believe that HLHS is a genetic disease, but the genes that are involved are not well known,” says Birker. “The fruit fly is a very good genetic system to model disease because it has many similar genes to humans and a short life span. I’m able to film videos of fly hearts to understand the impact of the candidate genes on heart function.

“My goal is to find genes that can be used in the future for the diagnosis and treatment of HLHS in babies. The research approach could also be used to screen for genes that might be involved in many other types of heart disease,” adds Birker.

The AHA supports early-career scientists with passion, commitment and focus by providing fellowships that fund their pursuit of cardiovascular research. Birker, a graduate student in the lab of Rolf Bodmer, PhD, professor and director of the Development, Aging and Regeneration Program, received her first AHA fellowship in 2018.