This newsletter aims to facilitate communication within the Department of Human Genetics, and was conceived by the Research Retreat Committee in 2006. Please send items for the next edition to Linda Downes-Piazza at ldownes@vcu.edu.
On April 17th, Amy Hawkins presented a poster at the annual American Association for Cancer Research meeting in Los Angeles, California. The poster detailed the initial characterization of a mouse model deficient in tyrosyl-DNA phosphodiesterase, a DNA-end processing enzyme. This model was developed through a research collaboration between Dr. Lawrence Povirk and Dr. Jolene Windle, with additional support from Dr. Kristoffer Valerie. Amy received a portion of the funding to attend the conference from a travel grant awarded from the VCU Graduate Student Association.
Lin Li will be starting a postdoc with Dr. Vijaya Ramesh at Massachusetts General Hospital at Harvard Medical School on July 1st. Dr. Ramesh’s laboratory investigates tumor suppressor genes and their functions, particularly tumor suppressors related to Neurofibromatosis 2 and Tuberous Sclerosis 1 and 2.
Paulie Papavassiliou has been selected for membership to Phi Kappa Phi Honor society and has also been selected as the School of Medicine's Phi Kappa Phi Scholarship recipient.
Congratulations to Our May Graduates
Maria Gyure
Maria successfully completed her research project entitled “Assessing Smile as a Diagnostic Tool for the Dysmorphologist”. For her hard work throughout graduate school, Maria will be rewarded by her family with a two-week Caribbean cruise with her husband and family. Beautiful islands and beaches await her! After returning, she hopes to be adjusting well to a new position as a genetic counselor.
Meghan Strenk
Meghan successfully completed her research project entitled “Development and Evaluation of a Computer Based Learning Module to Increase the Genetic Awareness of Non-Genetic Professionals”. Following graduation, Meghan reports that although she does not have a job yet. She has had offers! But is waiting for the right one. She hopes to return to the Midwest to work and is exploring several opportunities in Chicago. Meghan looks forward to spending time with extended family during a family reunion planned for later in the summer and hopes to have time to visit friends from college.
Michelle Waite
Michelle successfully completed her research project entitled “Using the Internet to Empower Genetic Counseling Patients”. Following graduation, Michelle reports that she is currently applying and interviewing for genetic counseling positions in D.C. She is also looking forward to spending more time with her friends and relatives who live in the area.
Julie Williams
Julie successfully completed her research project entitled “Increasing the Awareness of Restless Legs Syndrome (RLS) Among Family Medicine Practitioners and Pediatricians”. Julie is in the process of interviewing for jobs, but ultimately plans to be in the Georgia/Carolina area working as a prenatal counselor. In the mean time, she looks forward to relaxing at home with family and friends, and anticipating the birth of her nephew who is due in late May!
Certificate Students
We’ll be saying goodbye to our four certificate students this year: Tim Bigdeli, Christopher Chapman, Ankita Patel, and Dong (David) Shin.
Advanced Degree Recognition Event
This event will take place on Friday, May 18, 2007, at 11:00 a.m. in Sanger Hall room 8-036. A reception will follow immediately after the ceremony in Sanger Hall room 1-038.
Joann Bodurtha: The Synergy grant, one of three national 3-year projects funded by the Association of University Centers on Disabilities, to connect genetic counseling more closely with the LEND programs, leadership training program for neurodevelopmental disabilities, successfully recruited two summer interns from Virginia Union University. They will be mentored by the genetic counseling students.
Sarah Elsea received two grants:
Jerome-Lejeune Foundation (3/1/07-2/28/09) "Identification of novel loci for Smith-Magenis syndrome-like disorders." Total amount funded: $40,017
A.D. Williams Foundation (4/1/07-3/31/08) "Tom1l2 and susceptibility to Infection." Total amount funded: $15,000
Andrea Gropman, Sarah H. Elsea, Wallace Duncan, and Ann C.M. Smith (2007) "New developments in Smith-Magenis syndrome (del 17p11.2)," Curr. Opin. Neuro., 20:125-134.
Papers in press:
Alisa Nakamine, Leonid Ouchanov, Patricia Jiménez González, Elina R. Manghi, Marcela Esquivel, Silvia Monge Monge, Marietha Fallas, Barbara K.Burton, Barbara Szomju, Sarah H.Elsea, Christian R. Marshall, Stephen W. Scherer, and L. Alison McInnes (2006) "Duplication of 17(p11.2p11.2) in a Male Child with Autism and Marked Language Delay," Am. J. Med.Genet., in press. Published online 3/07.
Santhosh Girirajan, Roberto Mendoza-Londono, Norma Nowak, David K. Bunyan, Eli Hatchwell, and Sarah H. Elsea (2007) "Smith-Magenis syndrome and moyamoya disease in a patient with del(17)(p11.2p13.1)," Am .J. Med. Genet., in press. Published online 4/07.
Emily A. Edelman, Santhosh Girirajan, Brenda Finucane, Pragna Patel, James R. Lupski, Ann C. M. Smith, and Sarah H. Elsea (2007) "Gender, genotype, and phenotype differences in Smith-Magenis syndrome: A meta-analysis of 105 cases," Clin. Genet., in press.
Santhosh Girirajan, Stephen R. Williams, James Y. Garbern, Norma Nowak, Eli Hatchwell, and Sarah H. Elsea (2007) "17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome," Clin. Genet., in press.
Dr. Walter Nance was invited to give a Keynote Address on April 20,2007, at the Annual Meeting of the American Academy of Audiology which was held in Denver Colorado. This annual lecture honors the achievements of Marion Downs, a remarkable 93 year old audiologist who has devoted most of her professional career to demonstrating the feasibility and promoting the establishment of Newborn Hearing Screening Programs throughout the world. His talk described ways in which these programs could be improved.
The Department’s annual baseball lottery took place on April 12th at 3:00 p.m. on the 11th floor Marshall Street side of Sanger Hall. With a lower turnout this year, many of us walked away with three sets of box tickets. Thank you Joann for always thinking of us!
Dr. Linda Corey, our Graduate Program Director, has relocated to Sanger Hall, room 11-003A. Her new phone number is 828-9632 x134. Welcome back!
