October 28, 2002
Sequenom Searching For SNP Disease Risk Factors

Wired News writer David Ewing Duncan paid a visit to Sequenom of San Diego to become the first person to be tested for all known genetic markers that are thought to contribute to diseases. While a couple of risk factors for high blood pressure and heart problems were uncovered his genetic screening results came out looking favorable for a longer than average life.

Toni Schuh, CEO of Sequenom, told Genomics & Proteonomics magazine that Sequenom is rapidly scaling up its ability to the number of genetic markers it is watching in a large group of people to try to identify genetic variations that contribute to disease:

“We are doing large-scale genetics discovery studies to find the genes that harbor the predisposition to disease and to nail down the variations in these genes that turn them into risk genes. A year ago if a geneticist wanted to do this, he would have 400 to 800 microsatellite markers to cover the entire human genome. Two years ago, if somebody had these 400 markers to do a study on 500 people, that was considered a big genetic study. We have 11,000 people in our healthy population now and our total base of DNA markers is more than 100,000. The dramatic change in scale in terms of markers is 100 times more than a few years ago. That’s the very significant inflection point in the power of pharmacogenetics and medical genetics in general,” says Schuh.

Update: On that previous link it is claimed that 4 million SNPs have been discovered so far and there may be millions more that have not yet been discovered. The article reports on many biotech instrumentation companies which are rapidly introducing new products that further accelerate and automate the process of DNA assaying.

While Sequenom doesn't have as many SNPs identified as Perlegen Sequenom is offering 2 million SNP assays to its customers.

At the end of last year, Sequenom Inc., San Diego, completed a portfolio of 400,000 different working SNP assays, which is now available to their customers on its recently launched Web site, www.realSNP.com. The site is named as such “because the SNPs are real,” says Charles Cantor, chief scientific officer at Sequenom. The Web site contains information on how to run the assays, as well as information on population frequency of SNPs in various populations. Sequenom continues to design SNP assays for every SNP in the public domain, so the RealSNP.com Web site currently has more than 2 million designed assays. “And we know from past experience that about 90% of those will work the first time they’re tried without any optimization,” says Cantor.

We are on the edge of an explosion in the number of known genetic risk factors for diseases.

Share |      Randall Parker, 2002 October 28 11:57 PM  Biotech Advance Rates

Dr S. L. Halim said at December 28, 2003 10:14 PM:

We're a clininical laboratory in Jakarta Indonesia. We'd like to send samples to your laboratory for "sequenom searching for SNP Disease factors". At present I'm at Temecula (CA).
Certainly appreciate if I can visit your lab facility on January 2, 2004.
My phone number is 9093031375.


Dr. S.L. Halim Clinical Pathologisy
Lab Klinik Utama JOHAR
Jl Johar 1A, MENTENG
Jakarta Indonesia 10350
Fax: 6221-3101042 (I'll be back in Jakarta after
January 10, 2004

Halim said at December 28, 2003 10:25 PM:


Kindly send unformation how to send samples
for information genetic information that
contribute to disease.

Thank You.

Dr. S.L. Halim
Jl. Maluku 46 Menteng
Jakarta Pusat INDONESIA 10350
Fax 6221-3101041

At this moment I'm in California
Phone : 909303 1375

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