Reprogenetics

Dr. Santiago Munné Featured in Infertility & Reproductive News

admin — Sun, 29 Jan 2012 21:19:05 +0000

“Focus on Array Comparative Genomic Hybridization
Santiago Munné, PhD, head of Reprogenetics, Livingston, NJ, had helped to develop the first PGD test in the early 1990s. In 2001 he created Reprogenetics, the first laboratory in the United States to be accredited to perform PGD. The work performed by Dr Munné and his team these days focuses on array comparative genomic hybridization (aCGH). This technique highlights the presence of defects such as microdeletions and duplications in the DNA and uses a standard control rather than parental DNA in the analysis..”

View full article here: link

Reprogenetics wins the SART Prize Paper at ASRM in Orlando, FL

admin — Tue, 18 Oct 2011 17:22:55 +0000

Congratulations to Dagan Wells, PhD and Reprogenetics for winning the SART Prize Paper at the 67th Annual Meeting of the American Society for Reproductive Medicine (ASRM) in Orlando, FL
view here

Validation of Array Comparative Genomic Hybridization for Pre-implantation Genetic Diagnosis

admin — Wed, 10 Aug 2011 16:09:04 +0000

Researchers at Reprogenetics have published a study demonstrating the high accuracy of a new technique, called array CGH (aCGH), for analysis and screening of all chromosomes in human embryos. The authors report that errors or potential misdiagnoses occur very rarely with this technique. In the case of individual blastomeres from day-3 embryos, the error rate is only 1.8%, despite complications arising from mosaic embryos; these are embryos with a mix of normal and abnormal cells. They are known to occur frequently in vitro and can cause non-technical diagnostic errors during PGD. Further research at Reprogenetics has shown the accuracy of aCGH for blastocyst (day-5) biopsies to be 100% (unpublished data). This is clearly very encouraging.

The error rate published by Gutierrez and co-workers was obtained through the full analysis of all blastomeres in embryos that were previously analyzed and excluded from transfer based on chromosomal and other abnormalities; the results of the reanalysis were then compared with the original results obtained based on analysis of one (day-3) or a few cells (day-5). The 1.8% error rate indicates that only 2 of every 100 embryos had discordant results, that is, they were classified as abnormal but were not entirely abnormal; none of those classified as normal was found to be abnormal.

Many laboratories do not publish error rates which is problematic because they have no reference point for the results they produce. In our view, reanalysis of embryos using either the same technique or another technique as a quality control measure is critical for genetic testing laboratories. Implementation of such Quality Control/Quality Assurance measures sets Reprogenetics apart from many of its competitors.

“We now think that although mosaicism is very common in human embryos, a majority of mosaic embryos are what we call chaotic mosaics, resulting from a random distribution of chromosomes from cell division to cell division. Analysis of all chromosomes in every cell in these embryos shows that the likelihood of one cell having a normal chromosome count is slim to none. With previous techniques, not all chromosomes were analyzed; some cells appeared to be normal for the chromosomes analyzed, suggesting that mosaic embryos could produce a misdiagnosis.” Comments Santiago Munné, President of Reprogenetics and senior author on the article.

For more information: PubMed

1 Gutierrez-Mateo et al. Fertility and Sterility, 2011, 95:953-958

Dr. Mina Alikani of Reprogenetics on Embryonic Cell Line Approvals

admin — Thu, 28 Jul 2011 18:59:50 +0000

In a recent article on Bloomberg.com, Dr. Mina Alikani of Reprogenetics and Tyho-Galileo Research Labs comments on the process of embryonic stem-cell line approval. According to the article, in June alone, 37 stem cell lines were approved by the NIH for tax-payer funded research. Three of these approved lines were derived at Reprogenetics. This brings the national total to 128 U.S. endorsed lines.

Despite the surge in approvals, Dr. Alikani comments on the still-politicized nature of embryonic stem cells and how it seeps into the approval process. “Down the line, they may have to deal with some kind of a congressional committee coming down to check to see what they did, what the approval process entailed and how well they screened everybody, and how well they stuck to the guidelines,” cautions Alikani.

While clinical applications derived from embryonic stem cells may not be immediately made available, we are hopeful that an increase in federally-approved stem-cell lines, and funding towards research on these cells, will help bring life-changing therapies to the patients who need them.

Dr. Elpida Fragouli (Reprogenetics UK) receives a prize at the European Society of Human Reproduction and Embryology (ESHRE) for her work on non-invasive methods to test embryos for chromosome abnormalities

admin — Wed, 20 Jul 2011 16:41:39 +0000

Preimplantation Genetic Diagnosis (PGD) involves removal of one to 10 cells from human embryos developing in vitro and allows diagnosis of chromosome abnormalities at those early stages. At the 2011 Annual Meeting of ESHRE, Reprogenetics researcher, Dr. Elpida Fragouli, was honored with the Basic Science Award for her work on alternatives to embryo biopsy and conventional PGD. Dr. Fragouli’s paper described her team’s work on testing cells associated with the egg and the follicle for altered patterns of gene expression and how the expression patterns were associated with normal and abnormal eggs. These cells, called cumulus cells, are typically discarded following egg collection since they are not needed. Dr. Fragouli found that certain alterations in the cumulus cells from given follicle significantly increased the likelihood of abnormalities in the embryo following fertilization of the egg from that same follicle. This approach is not as comprehensive as that of direct analysis of the chromosomes in an embryo following biopsy, however, it is intriguing because the technique is essentially non-invasive and does not require embryo biopsy.

In an interview on the BBC (11 July 2011), Dr. Fragouli noted: “We are still in the process of establishing the usefulness of these genes as non-invasive markers of egg chromosome status and quality. However, it is interesting that several of these genes are involved in vital cellular functions of the cumulus cells and the egg they enclose, such as cell signaling and regulation, hormonal response and cell death, and so they may shed light on the genetic origins of chromosome abnormality.”