April 7, 2014

Center for Reproductive Genetics Established With $10 Million Grant

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With a five-year, $10 million grant from the National Institute of Child Health and Human Development, a Center for Reproductive Genetics will be established on both Cornell’s Ithaca and Weill Cornell Medical School campuses.

“The CRG is aimed at understanding the genetic basis for processes that give rise to healthy gametes for reproduction,” said Prof. Paula Cohen, biomedical sciences, who is director of the CRG. “If you don’t have healthy eggs and sperm, then this can lead to all sorts of issues such as birth defects, miscarriages, preterm delivery and infertility.”

This grant — which the University announced it had received on April 1 — marks a significant milestone for groups researching reproductive genetics, according to Cohen.

“This is the first time that a number of groups are being funded collectively to ask the same questions and, as such, this is likely to bring rapid advances in our knowledge,” Cohen said. “In science, so often we work in isolated bubbles, but this center grant, which encompasses five different investigators in four different projects, is likely to lead to bigger and quicker advances.”

The center aims to address these issues at the “basic research level” in a joint effort between the two campuses, which Cohen describes as the “bench-to-bedside approach.”

“Given that the CRG is based on both the Ithaca and Weill Cornell campuses, we hope to translate our findings from the lab into the clinic to help infertile couples and to understand how birth defects arise in humans,” Cohen said.

The CRG’s research focus is to understand how healthy gametes are produced, but more specifically, how the defects that arise during gametogenesis are produced. “This grant will enable cutting-edge research, using the latest technological advances and discoveries, to better understand fundamental processes in mammalian spermatogenesis.” — Jen Grenier

“Given how important healthy eggs and sperm are for sexual reproduction and how conserved the genetic processes are that give rise to these cells, it’s surprising to find that human gametogenesis — the process that gives rise to sperm and eggs — is extremely error prone,” Cohen said. “In fact, between 40 and 60 percent of human eggs contain the wrong complement or number of chromosomes, and this situation can lead to spontaneous miscarriages or birth defects such as Down syndrome and Klinefelter syndrome.”

The research conducted at the CRG may have implications on a myriad of issues surrounding the errors in human gametes, according to Cohen.

“Humans alone appear to have [this] dramatically elevated rate of chromosomal errors associated with the production of healthy gametes, and these are responsible for the relatively high rate of fetal and neonatal deaths in our species, as well as for the high rates of birth defects that we suffer from compared to other species,” Cohen said. “This research has the potential to address all these issues.”

This grant focuses specifically on understanding the role of small non-coding RNAs in gametogenesis, and it is the first big grant to focus on this area, according to Cohen.

“Each cell type has a different set of small RNAs and a different pattern of gene expression, including developing sperm,” said Jen Grenier, the head of the new RNA sequencing core for the CRG. “The exact roles and mechanisms of small RNAs are not clear, and one of the main areas of research at the Center for Reproductive Genomics at Cornell is to understand how small RNAs are involved in sperm development.”

The grant from the National Institute of Child Health and Human Development also includes an outreach component, which will provide funds to host a seminar series for the public, according to Cohen.

“These [seminars] will be held at the medical school around six times a year and will feature a renowned researcher in the field presenting their research to a lay audience,” Cohen said. “The idea is to bring basic research to the community and to the patients so that they can understand where our research is going.”

The members of the CRG team said they are optimistic for the future research potential of the center.

“It’s a great development for reproductive research at Cornell, and I’m personally very pleased about the support for the new RNA Sequencing Core and more generally for reproductive genomics research,” said Grenier. “This grant will enable cutting-edge research, using the latest technological advances and discoveries, to better understand fundamental processes in mammalian spermatogenesis.”

The research in reproduction at the CRG may have a significant impact for human fertility in the future, according to Cohen.

“It’s important to realize that infertility affects something in the order of 70 million couples annually worldwide, so understanding the basis for human fertility is crucial,” Cohen said.