In 2002, my husband and I were blessed with our third child. As the first months went by, we noticed our son, Brandon, wasn’t progressing normally. When he was five months old, he had difficulty holding his head up and was not able to sit on his own. Our worst fears were confirmed when Brandon
Wilson disease (WD) is a rare genetic disorder of copper metabolism that affects 1 in 30,000 people worldwide. Mutations in the ATP7B gene on chromosome 13 prevent copper from being properly excreted from the body. This results in the accumulation of copper in the liver, brain, and oth
Seckel syndrome belongs to the microcephalic osteodysplastic dwarfism group characterized by intrauterine growth retardation, dwarfism, and microcephaly. Characteristics of Seckel syndrome include severe proportionally short stature with severe microcephaly (mean postnatal growth retardation is
The centronuclear myopathies (CNM) are a rare group of hereditary neuromuscular diseases that are both clinically and genetically heterogeneous. Although most patients present with muscle weakness and low muscle tone, onset of symptoms and severity ranges from neonatal onset of severe weakness r
Our laboratory performs full gene sequencing of MLL2 for Kabuki syndrome.
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
A Comparison of Enrichment Techniques for Clinical Next-Generation Sequencing of Intellectual Disability, Early Infantile Epilepsy and Congenital Brain Malformations
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 cas
Investigating the Relationship Between Beta Cell Function, Sleep and Development in Patients with Monogenic Diabetes
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
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 he
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 la
New answers regarding thyroid pathophysiology of monocarboxylate transporter 8 (MCT8) deficiency derived from gene knock out mice
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
Do you have a patient with congenital myopathy or congenital muscular dystrophy? If yes, please help us build a database of patients and
The University of Chicago Genetic Services Introduces Exonic Deletion/Duplication Analysis by Oligonucleotide Array-CGH
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.
Cornelia de Lange syndrome and Related Diagnoses Multispecialty Clinic at The Children’s Hospital of Philadelphia
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 La
5841 South Maryland, Room G701/MC0077
Chicago, IL 60637
Our laboratory now has an IRB-approved Research Consent Form for patients that are interested in participating in further studies, should their clinical testing not reveal the etiology of their disorder. We will no longer require a consent form for clinical testing. Consent is only necessary, i
Jaeden was born in March 2009.