I am very grateful to you for reading this introduction. You may be related to an individual that is participating or you may be considering to participate yourself. I have the privilege of working with you or your relatives who are afflicted by changes in DNA or chromosomes. Throughout the course of my career as a geneticist, I have met or corresponded with many families by personal interview, phone calls, or emails and have received much encouragement, advice, and moral support from them.
You or your relative are participating because it is assumed there is a change in a gene that affects human growth or development. An affected individual might have a congenital birth defect, a neurological or physical problem or a known disorder. Some chromosomal abnormalities or gene mutations may disrupt the function of genes required for normal growth and development. By identifying these genes in people with specific developmental disorders, we hope to reach a greater understanding of how the human body grows and develops.
As molecular geneticists we are carrying out genetic research which has been approved by our Institutional Review Board (IRB) at Georgia Regents University. The principal researcher on the study is Hyung-Goo Kim with the Department of Obstetrics and Gynecology / Department of Neuroscience and Regenerative Medicine and the name of the study is the Developmental Gene Discovery Project (DGDP). We are searching to locate the abnormal genes causing genetic disorders in affected individuals. Since we would like to compare DNA sequences between affected and unaffected family members to identify the culprit gene the participation of family members is most helpful. Researchers will isolate DNA from the blood sample of the participants, and will analyze DNA to look for significant genetic changes at the level of the nucleotide and the chromosome associated with the individual’s condition.
In order to help with this, please provide relevant clinical information about your family from your medical doctor or genetic counselor. Clinical data is requested for each affected individual who is participating in the study. These data include medical records, photographs, results of karyotype analysis and microarray, other laboratory tests, X-rays, CT scans, and MRI scans. This is very important to better understand the problem for improved diagnosis and better treatment in the future.
Please see our consent forms attached in the links below. The consents are based on the age of participants: adults, 7-12 years old and 13-17 years old. For minors, the parental /guardian consent is also required by our IRB.
Taking part in this study is voluntary. You will neither be paid nor charged anything for participating in this project. The results of this research will not directly benefit you, but will help researchers identify people at risk for developmental disorders and may provide an understanding of why some people have these disorders. You may withdraw your consent to take part in this study at any time. If you withdraw your consent, there will be no penalty.
For your protection, all samples and medical information will be stored without identifying patient information. All collected samples will be coded; the codes and medical information of the participants will be kept in locked files and a secured database, and will be known only to the investigators.