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 was diagnosed with an extremely rare genetic disorder. I left the physician’s office that day feeling so alone and wondering; what the future holds for my child?
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 other organs. WD is always fatal unless it is diagnosed and treated before serious symptoms develop.
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 requiring respiratory and feeding intervention to onset of mild weakness in adulthood requiring assistance with mobility. The clinical presentation can appear similar to congenital or limb girdle muscular dystrophy, but the creatine kinase level is generally not elevated and muscle biopsies do not
Our laboratory performs full gene sequencing of MLL2 for Kabuki syndrome. The Kabuki Syndrome Network (KSN) is a support group for patients and families with Kabuki syndrome. Like many support groups, the inception of Kabuki Syndrome Network (KSN) was born out of the need to contact parents with similar challenges. When our daughter was diagnosed in 1994, Kabuki was still a newly described syndrome. Not only were support groups nonexistent, personal home computers were still in their infancy.
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.
