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Home > ARRA Stories > Dr. Edward Lammer: Chromosomal Microdeletions Causing Heart Defects
Dr. Edward Lammer: Chromosomal Microdeletions Causing Heart Defects

By Sheila Walsh

Edward Lammer, M.D.

Principal Investigator, Children's Hospital and Research Center at Oakland, Oakland, California

"Chromosomal Microdeletions Causing Heart Defects"

Administered by the NHLBI Division of Cardiovascular Sciences, Heart Development and Structural Diseases Branch

FY 2009 Recovery Act Funding: $668,140

Research Focus: Congenital heart defects are the most common type of birth defect, affecting eight out of every 1,000 newborns. The frequency of recurrences in the same families strongly suggests there are genetic contributions.

Edward Lammer, M.D., and his team are searching for chromosomal abnormalities among 500 California infants who were born between 1999 and 2004 with conotruncal defects that cause improper blood circulation. These life-threatening birth defects require costly medical interventions throughout life. The 500 infants were enrolled by their parents in a recently completed population-based case-control study of infants with conotruncal defects—the largest of its kind and the result of a collaboration between Children's Hospital Research Institute (CHORI) and March of Dimes-California Research Division.

"Without knowing the genetic and environmental contributors, we cannot develop prevention plans for these heart defects," said Dr. Lammer. "This includes more informed reproductive planning for parents and their children, as well as better clinical care for children born with conotruncal defects. Identifying genes that cause heart defects may help us better predict later complications such as arrhythmias that may be characteristic of some genes."

Dr. Lammer's team will employ a high-resolution, genome-wide screening technique, array comparative genomic hybridization (array-CGH), to detect submicroscopic chromosomal imbalances. This investigation, according to Dr. Lammer, complements past studies — sponsored by the National Heart, Lung, and Blood Institute (NHLBI) — of genetic and environmental contributions to causes and outcomes of congenital heart defects.

"I'm hoping we can make quite a bit of progress in two years," said Dr. Lammer. "It helps a lot that we already have DNA samples from a large population of California children born with heart defects. So we can move right from the DNA samples to the searches for the chromosomal abnormalities. Our project was exactly what the president wanted: shovel-ready."

Economic Impact: "Without the support of the NHLBI's Recovery Act grant, our efforts in this area of research would have been severely pared back," said Dr. Lammer.

According to Dr. Lammer, the NHLBI Recovery Act grant helped create jobs for three scientists:

  • Kazutoyo Osoegawa, Ph.D., whose staff research position in another lab at CHORI had been eliminated at the end of 2008. Much of the preliminary data used to apply for the NHLBI/Recovery Act grant was developed from a study on cleft lip palate that was published in 2007 by Dr. Osoegawa.
  • David Iovannisci, Ph.D., who had begun searching for jobs outside of CHORI when he learned that more than half of his salary support would be cut on July 1, 2009.
  • A lab technician who had been expecting to be laid off on July 1.

A Scientist's Inspirations: "My 10th grade biology teacher gave me several books about evolution and Darwin, including 'The Voyage of the Beagle,'" said Dr. Lammer. "If every student read that story of Darwin's voyage, there might be more passion for the life sciences."

"If I had to name one scientific 'hero,' it would be Dr. Rita Levi-Montalcini," added Dr. Lammer. "She was a biology professor at Washington University when I was an undergrad, and I opted to take a verbal final exam with her rather than the written exam. That was quite an experience. She was later awarded a 1986 Nobel Prize in Physiology or Medicine for her work on the identification of nerve growth factor. Her 1988 autobiography, 'In Praise of Imperfection,' is a marvel. During World War II, because she was a Jew, she was eventually banned from the Turin lab where she was a graduate student. She continued many of her experiments at her apartment, even incubating chick eggs under her bed."

A Scientist's Hope: "I hope that the work that we do makes a difference in children's lives," said Dr. Lammer.

This article originally appeared on the National, Heart, Lung, and Blood Institute website.

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Research/Disease Category

  • Biotechnology
  • Cardiovascular
  • Clinical Research
  • Genetics
  • Heart Disease
  • Human Genome
  • Pediatric
  • Prevention
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