Starting in this month's newsletter we will be taking a closer look at the various team members that comprise the University of Chicago Genetic Services. First up is Soma Das, Ph.D., Professor and Director of the DNA Diagnostic laboratory. Dr. Das received her B.Sc. in Health Sciences from the University of Ife, Nigeria, followed by her M.Sc. in Medical Genetics from the University of Glasgow, and her Ph.D.
Intellectual disability and global developmental delay are particularly challenging genetic diagnostic challenges because of the presumed myriad of causes. Microcephaly is a common finding in patients with intellectual disability. Microcephaly vera is a rare cause of global developmental delay that is characterized by severe microcephaly, MRI with normal structures and without evidence of focal injury or degeneration, developmental delay and no other significant neurological sequelae. The level of microcephaly involved is generally very severe, with head circu
The University of Chicago Genetic Services Introduces our Microcephaly and Early Infantile Epileptic Encephalopathy Panels by Next Generation Sequencing.
Starting July 16, we are offering two new panels:
The genetic basis for Weaver syndrome recently has been identified (Tatton-Brown et al., Oncotarget, 2011, 2:1127-1133 and Gibson et al., Am. J. Hum. Genet. 2012, 90:110-118) allowing now for the possibility of genetic testing for this disorder. Weaver syndrome is a rare congenital developmental disorder that was first identified and described in two unrelated males in 1974 by Dr.
The University of Chicago Genetic Services Laboratory is an active supporter of the CdLS foundation activities and is pleased to provide some information on the upcoming CdLS scientific symposium.
Anne Mitchell sensed something was not quite right when the fetus in her first pregnancy did not move as she had been told to expect. When her son Michael was born, he was extremely hypotonic and weak, requiring immediate intubation and a trip to the NICU. Without any family history of similar issues, Anne and David Mitchell did not have any idea why Michael’s muscles were so weak. After various tests all came back negative, Michael had a muscle biopsy at 4 weeks of age and was diagnosed with centronuclear myopathy.
The University of Chicago provides testing of the TCF4 gene for Pitt Hopkins syndrome. www.pitthopkins.org is an organization established by two families to help others with this diagnosis. Below is an article by one of the founders, Sue Routledge, that introduces you to her experience with the creation of their support group organization:
Come visit us in the exhibitor hall at the 2012 American College of Medical Genetics Annual Clinical Meeting in Charlotte, NC
March 28-30, Charlotte Convention Center, Booth 413
