News from the McKusick-Nathans Institute of Genetic MedicineVolume 1, Issue 2 – June 2009 Optimized for viewing in HTML
This and past issues can be found online here.
Top StoriesGreenberg Center is All About Being Little
In July 2009, about 3,500 dwarfs or Little People from all over the world will converge on Brooklyn, N.Y., for what is expected to be the biggest-ever National Conference of the Little People of America. The staff of the Johns Hopkins Greenberg Center for Skeletal Dysplasias will be there, manning the medical consultations , serving many who might otherwise not have the opportunity to meet with a group whose expertise is diagnosing, treating and managing the various types of skeletal dysplasia. Dee Miller was 2 years old in 1946 when a doctor at Johns Hopkins Harriet Lane Clinic diagnosed her as a dwarf: “Your child’s going to be short,” her mother was told. Period. “My mom didn’t know what to expect from one week to the next,” says Dee, senior clinical program coordinator for the Greenberg Center for Skeletal Dysplasias in the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins University. Dee’s dad made sense of her dwarfism by reasoning that the crops were bad everywhere in the mid-1940s: “There just wasn’t enough to go around,” he told her mom. Read more. Burning to Do Research
In his final year as a medical student, Haig H. Kazazian, Jr. ’62 became hooked on genetics when he decided to take an elective course that would be taught only once by legendary geneticist and pediatrician Barton Childs ’42. In time, Kazazian became a protégé of Childs’, who often told him that intense motivation was the key to life in the lab. “He always said, ‘You’ve got to burn to do research,’” Kazazian recalls. Read more. Meet a Scientist: Joshua Mendell on how science and microRNAs can be a family affair
Q: You started your lab at Hopkins after having earned a medical degree here in 2003 and a Ph.D. here in 2001. At what point in your science career did microRNAs become the focus?
Mendell: The field was just starting up in 2003 when I started exploring questions of microRNA biology. At the time, very few microRNAs had been studied in detail. Six years later, we now know that there are at least 500 human microRNAs—maybe as many as 1000—but still the functions of only a handful have been worked out fairly rigorously. Read more. Meet a Scientist: Julie Hoover-Fong on challenges of improving health care for Little PeopleQ: How did you end up at the Greenberg Center?
Hoover-Fong: I didn’t ever really plan on being a skeletal dysplasia specialist, but I did know since the sixth grade that I wanted to be a doctor. I was a geeky kid who liked science and had a sister who was very ill, so I knew something about children’s hospitals and was intrigued by medical treatment in pediatrics. Read more. Meet a Scientist: Aravinda Chakravarti on patience
Q: For years, you’ve invested yourself heavily in the search for common genetic variants, working to correlate genomic architecture with traits by employing progressively bigger screens for genes. What’s on your research horizon? Chakravarti: It won’t be long until we will be repeating these studies at higher resolution by doing DNA sequencing, in which case we will know all 3 billion sites in the genome. That would be more informative. Read more. | 
