3595 John Hopkins Court
San Diego, CA 92121-1331
Phone: 858-202-9000

Toni Schuh, president and CEO


Sequenom is a discovery genetics company focused on determining the medical impact of genes and genetic variations. Using a novel population genetics approach, Sequenom is systematically identifying potential disease-related genes that affect the most significant portions of the overall population.

Sequenom completed its merger with Gemini Genomics plc, a clinical genomics company, in September 2001.

Sequenom’s proprietary MassARRAY system enables large-scale SNP analysis and improves upon mass spectrometry, a standard reference technology. The MassARRAY system analyzes molecules directly, without the need for labels or tags. The platform produces highly accurate, highly specific and unambiguous results for SNP analysis, the company said. By focusing on disease genes with a broad population impact, Sequenom expects to play a critical role in bringing new therapeutic products to the market while maximizing the return on drug development.

Sequenom’s MassARRAY technology is based on MALDI-TOF (Matrix-Assisted-Laser-Desorption/Ionization-Time-of-Flight) mass spectrometry (MS). MALDI-TOF MS directly measures molecules during time-of-flight according to the difference in molecular weights. This means MALDI-TOF MS combines separation, detection and characterization in one step.

The cornerstone in Sequenom’s disease gene discovery program is its ability to systematically identify genetic variations and genes that impact human health using full genome screens. Sequenom performs full genome screens by examining multiple SNPs for every gene in the human genome in relation to a given disease and can do so in large numbers of individuals.

Sequenom’s ability to use DNA pools vs. individual genotyping for disease gene and target discovery reduces cost, saves time and decreases the amount of genomic DNA required for studies. Sample pooling allows collaborators to design and carry out studies that were once deemed impossible due to cost, time or DNA availability constraints.

Sequenom’s approach to identifying disease-causing genes based on its proprietary DNA bank of more than 15,000 healthy people focuses on determining allelic or gene variant frequency shifts over age-stratified groups of individuals within the proprietary DNA bank. Sequenom’s population genetics approach identifies SNPs associated with disease susceptibility.


Chemical genomics approach to validate disease gene targets and develop drug candidates for these targets: Morphochem AG.

The company said its collaborators and customers are: AgResearch Limited; Baylor College of Medicine; Center for Human Genetics at Boston University; Children’s Hospital of Boston; Galileo Genomics; Genaissance Pharmaceuticals; Genetics Institute; Genomics Institute of the Novartis Research Foundation; Genome Institute of Singapore; GlaxoSmithKline; GSF-Germany’s National Research Center for Environment and Health; Hibergen Limited; Hitachi; Incyte Genomics; Institute of Biomedical Sciences, Academic Sinics; Integrated DNA Technologies; Japan’s National Cancer Center Research Institute; Korea Advanced Institute of Science and Technology; Life Technologies; Metabion; Methexis Genomics; Nissei Sangyo; Partners Healthcare/ Harvard Medical School; Pfizer Inc.; Public Health Research Institute; Quest Diagnostics; Sanger Centre; Specialty Laboratories; U.S. Department of Agriculture; U.S. National Cancer Institute; U.S. National Human Genome Research Institute; U.S. National Institute of Diabetes and Digestive and Kidney Diseases; U.S. National Institutes of Health/Center for Inherited Disease Research; University of Texas Southwestern Medical Center; and Whitehead Institute.