SNPgenomics

SNPgenomics is committed to providing academic labs, as well as pregnant women with a noninvasive method to screen for the most common heritable forms of intellectual disabilities, Fragile X syndrome and Down syndrome, as well as chromosomal aneuploidies.

The company was founded by Randell T. Libby, PhD, and Paula D. Ladd, PhD. Dr. Libby is a pioneer in the field of human identity analysis, and has published extensively in the field of human molecular genetics. He has presented his work at numerous national and international conferences. Dr. Ladd has a decade of experience interrogating the molecular mechanisms of neurodevelopmental and neurodegenerative disease, and several years experience in the development of diagnostic tests.

SNPgenomics specializes in unstable tandem repeat mutations, with a particular expertise in trinucleotide repeat expansions, such as polyglutamine repeats, which are associated with Huntington's disease or CGG repeats associated with Fragile X syndrome. They can also size tetra, penta, and hexanucleotide repeats, including the C9ORF72 repeat region. They can size the length of repeats in cell lines, transgenic mice, various tissues, including liquid biopsies, and plasmid/BAC/YAC preparations.