Using genomic analysis to define the molecular causes of symptoms in patients with Chromosome 9 P Minus Syndrome
Research Site: Washington University School of Medicine, St. Louis, Missouri USA
The goal of our research project is to identify the specific genes that are deleted in people with 9 P Minus Syndrome and correlate these genetic abnormalities with specific characteristics of each affected person to gain insights needed to develop therapeutic strategies. Each individual who participates in this research project (or her/his parent or legal guardian) will need to provide informed consent, a detailed summary of her/his medical and family histories by providing medical records or access to medical records, and specific characteristics through a standardized examination and/or questionnaire, and a blood sample drawn from the arm and placed in a special blood tube that we will provide. DNA will be extracted from each person’s blood sample and state of the art gene code deciphering (called whole genome sequencing analysis) on as many as 100 affected people will be used to determine the exact location of the deleted region of the 9th chromosome in each person. We anticipate that our analysis will help us identify a core set of deleted genes that are consistently associated with specific characteristics of people with 9 P Minus Syndrome. Once the set of deleted genes is in hand, we will use genetic methods, including gene editing technology, to develop new insights into how the missing genes function to alter cells. These studies will be supplemented using blood cells that we will immortalize and store from the original blood sample to investigate, at a molecular level, how the deletion of these genes causes the specific characteristics observed in chromosome 9 P minus patients.
Contact: F. Sessions Cole, M.D. (firstname.lastname@example.org)
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