Repeated pregnancy losses will be the focus of a genetic study

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The Eunice Kennedy Shriver National Institute for Child Health and Human Development and the National Human Genome Research Institute have awarded a team of Yale researchers a grant to study recurrent miscarriages. The nearly $ 8 million grant will pave the way for the team to identify genes and types of genetic variation that may be responsible in people who experience multiple miscarriages.

“The grant will put Yale on the map as one of the country’s two largest centers for understanding the genetics of pregnancy loss,” said Hugh S. Taylor, MD, president and Anita O’Keeffe Young Professor of Obstetrics , of Gynecology and Reproductive Sciences and professor of molecular, cellular and developmental biology.

Fifteen percent of all pregnancies end in miscarriage. About 5% of women will have two miscarriages, and about 1% of these women will have a third.

“Most women will be pregnant more than once in their lifetime, and there are so many women who have experienced at least one loss,” says Taylor. “And most of the time, we don’t know why.”

Looking for genetic causes, the team will recruit people who have suffered multiple miscarriages and characterize the genomes of the most recent. After collecting material from the miscarriage and blood samples from both parents, the researchers will compare the genomes of the three. After ruling out cases that can easily be explained by known causes, such as a fetus with an extra copy or missing chromosomes, they’ll take a closer look at the genome sequencing data and look for other mutations now invisible.

“Because there haven’t been studies like this before, we have the ability to find new genes essential for development and viability and to reveal new biology about the types of mutations affecting fertility. “says Ira Hall, PhD, professor of genetics and director of the Yale Center for Genomic Health.

The team hopes to characterize intoleroma, the collection of genes essential for human development and life. Currently, only a small minority of the genes necessary for viability are known. This knowledge will help physicians educate prospective parents when they begin planning for reproduction.

Hall’s lab will help lead the analysis of genomic data. He expects a handful of millions of genetic differences to be important in recurrent miscarriages. Part of its role in the study will be to predict which of these millions of variants may be responsible.

Fifteen years ago, this project would have been unaffordable. Since then, however, there have been tremendous advancements in genome sequencing technologies that allow scientists to perform genome sequencing in large numbers of people quickly and affordably. Now, at a time when human genomes are being sequenced for a wide variety of projects, the Yale team has a strong knowledge base on genetic and human variation that allows them to put their observations of this project into context.

Yale already has an ongoing recurrent pregnancy loss program to help treat and provide support for people with multiple miscarriages. The new study will provide specialists with valuable information to understand and deal with cases that are now unexplained.

“Miscarriages can be simply devastating and heartbreaking, especially when they’re repetitive,” says Taylor. “We will be one of the leading centers in the country and our patients will have the first access to this revolutionary technology that will begin to understand why women can lose pregnancies.”

In addition to Taylor and Hall, Yong-Hui Jiang, MD, PhD, and Uma Reddy, MD, MPH, will be major contributors to the study. Jiang is a professor of genetics and head of medical genetics. Reddy is Professor of Obstetrics, Gynecology and Reproductive Sciences, and Section Chief of Maternal and Fetal Medicine


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