Come visit our exhibit at the following upcoming conferences:
October 11-15 at the ASHG 61st Annual Meeting in Montreal Exhibitor Booth #1002
October 27-30 at the NSGC Annual Education Conference in San Diego, CA Exhibitor Booth #511
The genetic diagnosis of non-syndromic neurological disease presents unique challenges to clinicians and diagnostic labs: recognizable phenotypes are genetically heterogeneous with many dozens of genes causally implicated, mutations in each gene only explain a negligible percentage of patient cases, and a complex and rapidly developing literature requires constant re-evaluation of the diagnostic strategy. We are pursuing a highly multiplexed approach to the diagnosis of non-syndromic intellectual disability, developmental delay and brain malformations and are evaluating three different e
Full gene sequencing for KCNJ11, a gene associated with permanent neonatal diabetes, is available at The University of Chicago Genetic Services Laboratory and research on this condition is conducted by several researchers at The University of Chicago. In 2006, the University of Chicago helped to improve the life of 6-year-old Lilly Jaffe. Through advances in molecular medicine, researchers utilized the Clinical Resource Center (CRC) to treat Lilly for monogenic diabetes with pills instead of insulin.
Our laboratory performs testing on several genes associated with autosomal recessive primary microcephaly and other brain malformation disorders. The Foundation for Children with Microcephaly is a 501(c)(3) nonprofit organization dedicated to helping children diagnosed with Microcephaly (and other closely-related neurological disorders) to progress, thrive and succeed in life. Founded by a mother of a little girl diagnosed with Microcephaly, FCM is the only charity in the nation dedicated to helping children with the all too common disord
We currently have three fellows working towards their American Board of Medical Genetics Clinical Molecular Genetics Certification. Scott Topper, Ghayda Mirzaa, and Yu-Wei Cheng are valued members of our laboratory that work on clinical testing, along with projects of interest to them and the laboratory.
MCT8 deficiency, has been recently recognized to cause a severe form of X-linked mental retardation and neuromotor impairment in more than 150 individuals. Full gene sequencing is available at The University of Chicago Genetic Services Laboratory and research on this condition is conducted in Dr. Samuel Refetoff's laboratory, also at The University of Chicago. The condition is characterized by a unique combination of thyroid hormone (TH) test abnormalities.
Do you have a patient with congenital myopathy or congenital muscular dystrophy? If yes, please help us build a database of patients and DNA to support clinical trials and improve efficiency of patient contact. When you have patients collecting blood for genetic tests (like at the University of Chicago) please consider asking them to register in the CMDIR and simultaneously draw blood for the CMD BioBank. Tell your patients to visi
Starting July 15, we will be offering an oligonucleotide microarray-based test for the detection of exonic deletions or duplications of 54 genes currently tested by sequence analysis in our laboratory.
A brother and sister of consanguineous Middle Eastern ancestry were seen in the neurogenetics clinic at the University of Chicago with a rare congenital microcephaly syndrome characterized by microcephaly with asymmetrical polymicrogyria (PMG) and severe developmental handicap.
The Center for Cornelia de Lange Syndrome and Related Diagnoses is the culmination of years of dedicated work by a core team of clinicians and investigators at The Children’s Hospital of Philadelphia, coupled with the passion and vision of parents and families of children born with Cornelia de Lange syndrome (CdLS) and related diagnoses. This Center was established to develop a comprehensive approach to treating and understanding, on a clinical and molecular level, developmental diagnoses.
