One of the items that was given the highest priority at last year’s AHC Symposium was the creation of a blood cell bank that would allow for future genetic research to take place. To do this, it will be necessary to collect blood samples from affected AHC children, both parents and possibly certain other family members. Once collected, these samples will be stored along with the corresponding data at the Eccles Institute of Human Genetics. Dr. Louis Ptacek, who took part in the recent symposium, will oversee this project. His comments regarding it’s objectives are as follows: AHC is likely to have genetic components that contribute to developing this condition. Our goal is to develop a bank of blood cells from AHC patients and selected family members. Once this bank of DNA is established, research to study genes contributing to AHC can begin. Such genetic contributions are complicated but a panel of DNA samples from a large group of patients and families will allow testing of specific hypotheses regarding genetic contributions to AHC. Once a gene for this disorder is identified, the function of the gene could be studied to better understand the biological basis of this disease. These goals will take a long time to achieve and immediate benefit to patients is unlikely however, starting to investigate such possibilities is just one more step in our long-term goals of ultimately understanding AHC and eventually, to be able to treat it more effectively. AHC Families wishing to take part in this project will need to send their name, address, phone number, and any contact information to the following address shown below. If you prefer, this information can be submitted to Dr. Swoboda via Fax.
Dr. Kathryn Swoboda University of Utah Dept. of Human Genetics 15 N. 2030 E. Room 7160 Salt Lake City, UT 84112 (801)694-4102/(801)585-9717 or e-mail to Mylynda Schlesinger at firstname.lastname@example.org
Once this information is received, a blood kit will be sent out along with a consent to release medical information form. This form will need to be signed and returned to Eccles before it goes to their doctor, where they will retain a copy in their files authorizing the release of records. Eccles will then forward the signed consent to the doctor that has been indicated on the form. Once a number of blood samples have been drawn and returned, Eccles will be able to begin their search. In cases where young children or other participants are terrified of needles or have extreme difficulty in collecting blood, a small amount of DNA can be collected using Cytosoft oral brushes. However, since we do not obtain nearly the same amount of DNA from the brush as we do from blood samples, we much prefer to have participant blood samples whenever possible. If you would like additional information on this project or other potential AHC research, please refer to the initial symposium summary or feel free to contact Kim Cooper via phone at: (425) 486-9525 or via e-mail at email@example.com