The researchers from Baylor College of Medicine, Dr. Joseph Alaimo and Dr. Sarah Elsea, who came to the Pitt Hopkins Research Symposium in September 2015, are launching some exciting new research studies for Pitt Hopkins. They want to help us get the Coriell bank going and also do some important metabolomics screening. The Global Maps test they are offering is the first test of its kind in the country right now. This simple blood test will give us an in depth look at the metabolic process of our kids, and provide valuable insight that could help us not just in future research, but now. Here’s some more information:

Metabolomic profiling is a newly-developed, large scale, semi-quantitative screening test that looks at perturbations in both individual analytes and pathways related to biochemical abnormalities, including but not limited to amino acid, organic acid, lipid, and nucleotide metabolism. This is a small molecule screen for compounds ranging in size from 50-1500 Da. It should be used as a screening tool for individuals who have an undifferentiated phenotype or as supportive evidence in individuals with equivocal mutations in genes related to metabolic processes. It is not intended to supplant current diagnostic testing for specific conditions nor is it intended for monitoring therapy. Any abnormalities detected on the Metabolomic Profile should be confirmed by diagnostic biochemical or molecular diagnostic testing. This test must be ordered by a physician and must be accompanied by detailed clinical information for the most informative interpretation.

The three parts of this study are:
1. Blood for global metabolomics
2. Fibroblasts to make IPSC lines and put in the Coriell bank
3. Surveys

If you and your family would like to be a part of these studies or would like more information about how to get involved please read the attached flier and use the contact information below to begin the enrollment process:

Joseph.Alaimo@bcm.edu and audrey.davidow@gmail.com

See STUDY FLYER below for more information: