The laboratory is pursuing two projects: Preimplantation genetic diagnosis (PGD) in conjunction with the Reproductive Medicine Clinic at Froedtert Hospital and deletion/duplication testing in patients with neurocognitive disabilities and birth defect in conjunction with Dr. Uli Broeckel's laboratory.
The preimplantation genetic diagnosis (PGD) program has two areas of interest, PGD-HLA and PGD for single gene disorders. The PGD-HLA program helps children in need of an HLA matched hematopoietic progenitor cell transplant by enabling the affected child’s parents to have an HLA matched sibling who can act as a cord blood donor for the child in need. A couple uses IVF to form embryos then uses PGD to identify embryos that are HLA matched to the child in need of a transplant. Embryos found to match the affected child are transferred to the woman’s uterus resulting in a pregnancy. When the child is delivered cord blood from the placenta is collected at birth and used as the source of HLA matched hematopoietic progenitor cells for transplantation.
The PGD for single gene disorders program seeks to help couples at risk for bearing a child with a genetic disorder. This program allows couples to start a pregnancy free of the genetic disease by testing embryos formed thru IVF and transferring to the uterus only those embryos that are unaffected. PGD for spinal muscular atrophy (SMA) and autosomal recessive polycystic kidney disease (ARPKD), both recessive disorders, are available. PGD for ARPKD was developed in conjunction with Dr. Ellis Avner’s ARPKD program, supporting the missions of the Individual Medicine Institute and the Childrens Research Institute to translate research into clinical practice (translational medicine). The PGD program is using an important recent advancement in PGD, called whole genome amplification. This technique makes a copy of the entire genome from a single cell allowing molecular analysis of any number of genes in a second round of PCR.
Neurocognitive disabilities (learning disabilities and mental retardation) and birth defect can be the result of small chromosomal aberrations (duplication and deletions). It is now known that 10-20% of patients with mental retardation/developmental delay (MR/DD) and/or dysmorphology have small duplication and deletions that are undetectable by routine chromosome analysis.
A comprehensive duplication/deletion testing format that covers the entire genome (Affymetrix® Genome-Wide Human SNP Array 6.0) is now in use in the laboratory to identify these abnormalities in patients enrolled in a research study of neurodevelopmental disabilities. We have also developed this assay to test patient samples from Children’s Hospital of Wisconsin.
DNA Extraction from Formalin Fixed, Paraffin Embedded Tissue for PCR and quantitative PCR (qPCR)
Click here for Dr. Bick's Faculty Collaboration Database profile page, which includes an up to date listing of his publications.
Click here for Dr. Lau's Faculty Collaboration Database profile page, which includes an up to date listing of his publications.