News from the McKusick-Nathans Institute of Genetic MedicineVolume 1, Issue 3 – September 2009 Optimized for viewing in HTML
This and past issues can be found online here.
Top StoriesGenetics Residency Program is Rich in TraditionA nurse in the pediatric intensive care unit at Johns Hopkins Hospital hovers over a patient whose blank stare and jerking limbs command attention. Monitoring the teen’s vital signs, the nurse eyes new visitors to the room, asking:
“You are?”
“David Valle.”
“From what service?”
“Genetics.”
Valle, the director of the McKusick-Nathans Institute of Genetic Medicine Institute of Genetic Medicine, is making rounds with Abdallah F. Elias, M.D., a 39-year-old clinician-researcher who’s new to the Johns Hopkins Genetic Medicine Clinical Residency program. Read more. Wheelan' in the New
One day Veena Gnanakkan, a third-year Ph.D. student in the human genetics graduate program at Johns Hopkins, discovered that some of her lab mates were trying to align and compare DNA sequences with the human genome using an online database, a process commonly used to identify DNA sequences. Her lab mates were mired in trying to laboriously align 50 or so sequences, one at a time. Gnanakkan, who has a bachelor’s degree in computer engineering and a master’s degree in bioinformatics—and real-life experience in tackling such DNA alignment challenges—informed them of a much faster computational way of doing it. Read more. Meet a Scientist: Jill Fahrner
Q: Why did you choose to do a residency in genetics?
Fahrner: I’m fascinated by the idea that a change at the level of a person's DNA can cause a syndrome affecting multiple organ systems. I enjoy trying to put together the pieces of the puzzle into a genetic syndrome when patients present with multiple, seemingly unrelated problems. Finally, as geneticists, we often diagnose rare disorders, and families are often very grateful, which is truly rewarding. This residency training program will provide me with the expertise to focus on pediatric patients with genetic disorders. Read more.
Meet a Scientist: Hans Bjornsson
Q: What do you envision yourself doing after completing the residency? Bjornsson: I hope to help set up one of the first epigenetics clinics in the world. We now know of a number of conditions for which changes in epigenetics contributes to pathogenesis. These conditions have many features in common affected patients might best be served by a clinic solely focused on epigenetic disorders given the complexities in the diagnostic workup. Such a clinic would also help develop the expertise needed to better classify these types of patients and help develop epigenetic therapies. Read more. Meet a Scientist: Vinayak Kottoor
Q: What is the best thing about this residency? Kottoor: It’s the amazing access trainees have to the IGM faculty as well as other faculty and staff within the greater institution. Any meeting I have had with IGM faculty has ended with an invitation to return and discuss some more when I needed to. That is a very positive aspect that I hope to emulate. Read more. | 
Facebook
Twitter
Sharecare
Blogs
YouTube
RSS
Podcasts
