Meet The Lab

Principal Investigator

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Martina Brueckner, MD

Professor of Pediatrics (Cardiology) and Genetics

Dr. Brueckner obtained her BS and MD degrees from the University of Virginia, followed by a Pediatric Residency at the University of Pittsburgh and a Pediatric Cardiology Fellowship at Yale University School of Medicine. Her clinical and research focus is the genetic cause and developmental mechanisms underlying CHD with a focus on the function of cilia in heart development and left-right patterning. The lab first discovered that a ciliary dynein was essential for establishing vertebrate LR asymmetry, then identified that both motile and immotile cilia at the conserved embryonic left-right organizer are required to create organismal LR asymmetry, identifying a novel paradigm for embryonic axis formation. The lab is now translating the understanding of the basic biology underlying LR development to a comprehensive understanding of human congenital heart disease through genomic analysis of the largest single cohort of CHD patients. This has identified the genetic cause of ~15% of CHD, and directly linked genes required for cilia function to human CHD

Dr. Brueckner's clinical focus is on patients with genetic causes of congenital heart disease. She co-founded one of the first pediatric cardiac genetics clinics at Yale-New Haven Children's Hospital. The clinic provides comprehensive diagnostic evaluation and follow-up care for patients with genetic-cardiovascular disease. Dr. Brueckner has been a staff cardiologist since completing her fellowship at Yale in 1990.

 

Current Members

Roxanna Altus

PhD Student

Roxanna is a PhD student in the Genetics Department at Yale University. In 2021, she earned her B.A. in Biochemistry and Molecular Biology from Boston University. As an undergraduate, she worked in Dr. Francisco Naya’s muscle biology laboratory investigating the impaired differentiation of muscle progenitor cells deficient in the Meg3 lncRNA. She is currently interested in questions of vertebrate embryonic patterning and development, and her work in the Brueckner lab focuses on understanding the mechanisms of symmetry breaking in the Left Right Organizer. Outside of the lab, she enjoys doing puzzles, trying out new recipes, and playing Dungeons and Dragons with her friends from home.

Liana Baconguis

Research Assistant

Liana was born and raised in the Philippines. She recently completed her M.S. from Louisiana State University, where she worked on the immunotoxicological effects of free radicals in combustion-generated particulate matter on the mouse lung, as well as the effects of exposure to these particles in a community surrounding a waste incinerator. She's passionate about science communication and hopes to one day transition into a community-oriented scientific role. Outside of the lab she enjoys baking, tending to her houseplants, science fiction/fantasy, and livetweeting prestige TV episodes. 

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Svetlana Makova

Lab Manager/Research Associate

Svetlana earned her M.S. degree in the Chemistry of Biologically Active Compounds from Moscow State University of Fine Chemical Technology and her M.S. in Biochemistry from the Ohio State University. She joined the Brueckner lab as a research associate/lab manager in 1999. Svetlana is interested in the role of cilia in left-right patterning during embryogenesis. One of her favorite pastimes is staring at beating cilia in different systems: mouse LRO, brain, trachea, and oviducts.

Aidan Marks

Undergraduate Student

Aidan is a third-year student in Davenport College at Yale University from Greenwich, CT. He is working with Anea Zimmerman to differentiate cardiomyocytes from induced pluripotent stem cells that express congenital heart disease mutations at the Brueckner Lab. He hopes to one day go to medical school, and when he’s not in lab, he enjoys cooking, hanging out with friends, and rowing for the Lightweight Crew team here on campus.

Kenneth Ng

PhD Student

Kenneth is a PhD student in the Brueckner lab and Lek lab. He completed his BSc in Life Sciences at the National University of Singapore. Transitioning from a mostly experimental background to computational genetics, he is passionate about leveraging large-scale sequencing cohorts and cutting-edge computational techniques to understand disease etiology. He is currently working on the Pediatrics Cardiac Genomics Consortium (PCGC), the largest collection of patients with congenital heart disease, to investigate the much-unknown genetic architecture of congenital heart disease. In his free time, he loves to participate in various sports and to travel, with the goal of visiting all the countries in the world one day.

Sam Obioma

Undergraduate Student

Samuel is a second-year undergraduate student at Yale University, originally hailing from Chicago, Illinois. At the Brueckner Lab, he is currently working alongside Roxanna Altus to elucidate MMP21 targeting and function in the symmetry breaking of the Left-Right Organizer.

On campus, Samuel is involved with multiple student organizations such as Yale MedSci, Yale Scientific, and Yale Club Spikeball. In his free time, he enjoys listening to music, visiting various museums, and playing cards with friends.

Jessica Sweeney

Research Coordinator

Coming soon!

Anea Zimmerman

Post Bacc Fellow

I recently graduated with a B.S. in Biology from the University of North Carolina at Wilmington. During my undergraduate career, my research involved understanding the underlying mechanism(s) regulating craniofacial bone growth and development. At the Brueckner lab I’ll be generating induced pluripotent stem cell lines that express congenital heart disease mutations and differentiating them into cardiomyocytes to investigate how these mutations are affecting heart tissue function. When I’m not in the lab I enjoy reading thriller novels, cooking, and listening to music.