Meet the Team - Daniela del Gaudio Ph.D.

Up next in our continuing series highlighting the many members of the UCGS lab is Daniela del Gaudio, Ph.D., associate director of the University of Chicago Genetic Services.  Dr. del Gaudio received her PhD. in Clinical Molecular Biology from the University of Naples “Federico II”, Naples, Italy. Shortly after graduation, Dr. del Gaudio joined American Board of Medical Genetics training program at Baylor College of Medicine and became certified in Clinical Molecular Genetics. Prior to joining The University of Chicago Genetic Services, Dr.

The Coding Corner Update

In this new series of articles, we will be bringing you news and updates from our billing department.  Many of you may have at some point communicated with Yulanda Outlaw, the Billing Manager for the University of Chicago Genetic Services.  Yulanda has been with UCGS for 12 years and plays an integral role in the group.  We understand the difficulties associated with healthcare reimbursement and one of Yulanda's goals is to help our clients navigate  our billing processes and procedures  with ease and clarity.

Meet the team - Soma Das, Ph.D

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.

Mutations in the DNA repair enzyme polynucleotide kinase 3’-phosphatase lead to both microcephaly and seizures without other obvious DNA repair phenotypes.

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