Developmental Genomics Core-D
Korf, M.D. and and Ludwine
Human Genome Project has generated tools of unprecedented power
to identify genes that contribute to the etiology of developmental
disorders. This opens the door to analysis of genotype-phenotype
correlations, study of biological mechanisms of developmental
disorders, and generation of new diagnostic tests. The UAB
Department of Genetics offers a full complement of genomic
tools to facilitate gene identification, but most investigators
in the IDDRC are not equipped to organize and conduct a study
aimed at gene identification, to interpret the raw data that
are generated, or to translate a discovery into clinical practice.
The Developmental Genomics Core will function as a coordination
and consultation service to IDDRC investigators, helping them
to strategize a gene identification project, access genomic
technologies, and liaison with the patient or family during
Core-D objectives include:
Clinical Study Coordination: Assistance
with collection of clinical information and DNA or tissue
samples. This includes coordination of patient and family
recruitment, development of IRB protocols and informed
consent documents, creation and maintenance of phenotypic
databases, DNA and tissue collection and storage, and genetic
counseling regarding results of studies.
2. Genomics: Performing linkage analysis
and screening candidate genes or regions for mutations
and microarray-based comparative genomic hybridization
(array CGH) to rapidly screen for genome-wide deletions
or duplications, with bioinformatics and statistical genetics
support to interpret data.
3. Translational Genomics: Development and
validation of clinical molecular diagnostic assays that can
be performed in a CLIA–certified laboratory.