Genetic News from Johns Hopkins Medicine

Sponsored by the McKusick-Nathans Institute for Genetic Medicine

Volume 3, Issue 4 – January 2012

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This and past issues can be found online here.

Top Stories

Johns Hopkins Awarded $16M to Launch New Genetics Research Identify Disease Cause

The McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins in collaboration with Baylor College of Medicine has been named one of three Mendelian Disorders Genome Centers by the National Human Genome Research Institute and will receive $16 million over the next four years to identify causes of genetic disease. This partnership arose out of longstanding interactions between geneticists at Baylor and Hopkins. Like the IGM, Baylor has a history of extensive training program activity. By combining our efforts we will have access to a large network of former trainees around the world. Baylor also has an accomplished large scale DNA sequencing center, the Human Genome Sequencing Center, that played a central role in the Human Genome Project.  Their expertise in sequencing together with our own rapidly developing abilities will be essential for the success of this effort. Our new center will be called the Baylor-Hopkins Center for Mendelian Genomics; the other two centers will be at University of Washington and Yale University.

“Although they are individually rare, Mendelian disorders in aggregate account for more than ten percent of inpatients in pediatric hospitals. Moreover, one third or more of the patients we see in our genetics clinic who clearly have inherited conditions remain undiagnosed after exhausting all possible and available tests,” says David Valle, M.D., the Henry J. Knott Director of the McKusick-Nathans Institute of Genetic Medicine. Read more...

Meet the Scientist - Q and A with Joann Bodurtha

You had been at Virginia Commonwealth University for 28 years, why did you now decide to come to Johns Hopkins?

BODURTHA:  I believe at Hopkins I now have the chance to do things that can have broader impacts in health and society. As a geneticist, I’ve observed that genetic conditions don’t depend on socioeconomic status, and as a society we haven’t always figured out how to bring genetic medicine to all who might benefit. But, I get the sense that Hopkins is grappling with these issues and trying to bring the benefits of genetic medicine to those in the surrounding community, as well as be an international leader. I want to contribute to the aims of the team here. I have a master’s in public health, and one of my professional goals has been to use genetics to try to help people in real life, at the family, community and population levels.

How do you go about bringing genetic medicine to everyone?

BODURTHA: Mostly I do this through my research, training of new professionals and collaborations with families and agencies. I am continuing to work on a research project with the Ob-Gyn department’s woman’s health clinic at VCU. Less than half of the patients there are insured and many of them are of diverse backgrounds with low income. As we have worked with these patients, we began to realize that many of them didn’t know their family medical history and didn’t feel comfortable talking with their families about health issues. Read more...

Other News

61st International Congress of Human Genetics Recap
Held in Montreal, Canada on October 11-15, 2011

Incorporating Genetic Medicine Into Developing Countries’ Primary Care
This workshop paired genetics experts with clinicians from developing countries in an effort to bring genetics into clinical practice. “In developing countries, families are the unit of care, which actually is a benefit to the practice of genetics,” said Aravinda Chakravarti, Ph.D., professor of Medicine and of the McKusick-Nathans Institute of Genetic Medicine, who served as one of the physician mentors. “Family history can be used as a guide for identifying genetic diseases and common disorders that can inform the physician when to order a genetic test or when to suggest a lifestyle change.” Some isolated communities tend to have a higher prevalence of severe genetic diseases because of little genetic variation. The disease genes continually are passed on to future generations since healthy versions of the genes aren’t available or are few in number in the population. By tracking the family history of the disease, physicians may be able to predict when a couple might be susceptible to producing children with a particular genetic disease, and can suggest when to order maternal or newborn testing, says Chakravarti. He suggested that developing country physicians should be aware that new spontaneous mutations that can appear and these should be tracked too. Tracking the incidence of more common diseases like diabetes, cancer and heart disease, which are affected by many genes working together, said Chakravarti, provides physicians an opportunity to know when to make recommendations for lifestyle change.

Ethics Awareness In International Genomics Research Collaborations
The genomic revolution has led to much international collaboration comparing various indigenous populations’ genomes across the world of to discover genetic factors contribute to certain diseases. However, Chakravarti said, sometimes when researchers travel to other countries and collect DNA samples, they can unknowingly violate or bypass the rules of local governments. “We should ensure that we get consent from the government and the people and engage the community,” says Chakravarti. “Just because it takes time to establish relationships and gain permission, doesn’t mean geneticists shouldn’t do the right thing.” He gives examples of successful international collaborations, like the Human Genome Project, 1000 Genomes Project and HapMap, that he participated in and how the researchers went about ensuring the proper mechanisms of gaining permission and collecting data were followed. He also gives instances in which better sensitivity and diplomacy could have been used to gain trust and understanding from the people involved. “The purpose of this discussion is not to point fingers, but to make other researchers aware of the ethical boundaries that we must follow when performing research in other countries and on other cultures,” he said.

Elizabeth Gerber Receives Trainee Award

Elizabeth Gerber, a student in the Human Genetics Program in Hal Dietz’s laboratory, won a Trainee Award from the American Society of Human Genetics. Recipients were selected on the basis of an abstract and presentation materials on their research. As a finalist, Gerber received paid travel and registration to the International Conference of Human Genetics, where she was awarded a cash prize for being one of three winners.

Gerber studies scleroderma, which is progressive hardening of the skin due to fibrosis—formation of scar tissue. Her main focus is stiff skin syndrome—a rare genetic form of scleroderma in which stiff tight skin encases the entire body and limits joint movement. She generated two mouse models of this disease, one with the same genetic change that causes stiff skin syndrome in humans, and a second model to understand how this genetic change leads to disease. Using cells and tissue from the stiff skin mice, she has found therapies that reverse the disease and may be clinically relevant in human patients. She is also investigating whether these therapies may be used for treatment of another more common form of scleroderma, systemic sclerosis—an autoimmune disorder that results in recurrent episodes of stiff skin, as well as lung, kidney and blood vessel damage.

Johns Hopkins Researchers Discover How Breast Cancer Spreads to Lung

The spread of breast cancer is responsible for more than 90 percent of breast cancer deaths. Now, the process by which it spreads -- or metastasizes -- has been unraveled by researchers at Johns Hopkins.

Reporting in two papers, the researchers have discovered the switch that enables breast cancer cells to travel to and be received in the lungs.

The results appear in two separate papers, one in the September 12 issue of the Proceedings of the National Academy of Science Early Edition and the other in the August 22 issue of Oncogene.

"Metastasis transforms breast cancer from a local, curable disease, to one that is systemic and lethal," says Gregg L. Semenza, M.D., Ph.D., the C. Michael Armstrong Professor of Medicine, director of the Vascular Program in the Institute for Cell Engineering and a member of the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins. "Metastasis was long thought a late event in cancer progression, but we have now shown metastasis to be an early event that is dependent on HIF-1." Read more...