Reproductive Genetics Program

Although one in six couples within the United States struggles with infertility, the causes vary widely. Poor gamete quality (egg and sperm), hormonal abnormalities, and/or structural disorders are responsible for a large number of infertility cases.  Many of these conditions have underlying genetic variation or mutation driving the phenotypic expression.

Researchers at the Human Genetics Institute of New Jersey’s Reproductive Genetics Program use a combination of basic and clinical scientific approaches to understand the genetic basis of infertility. By focusing on the identification of relevant genes and biomarkers involved in fertility, researchers can translate findings into clinically relevant applications to improve family planning and reproductive options for couples.

In the basic science branch of the program, HGINJ researchers use model organisms such as fruit flies, nematode worms, and mice as powerful tools to address fundamental questions concerning gamete production, fertilization and embryonic development. The genes identified in model organisms can be genetically manipulated for scientific exploration and provide insight into human reproduction where the same genes are often conserved and utilized. By studying similar processes in model organisms, HGINJ researchers have gained novel insight into fertility issues such as poor egg quality in women of advanced maternal age, egg and sperm interactions prompting embryo development, and egg susceptibility to chromosome segregation mistakes that lead to disorders such as Down’s syndrome.  Human studies are currently being conducted to identify genes that determine the hormonal levels reflecting ovarian reserve, a strong predictor of reproductive potential.

The clinical branch of the program is closely associated with the Robert Wood Johnson Medical School and Reproductive Medicine Associates of New Jersey. Current research efforts are pioneering the use of cutting-edge technologies to improve live birth rates after in vitro fertilization (IVF) procedures and to reduce the incidence of multiple births in a single pregnancy. Other research interests include using DNA sequencing to identify genetic biomarkers of oocyte quality and developmental health.

Scientists in the HGINJ Reproductive and Computational Programs work closely together.  These collaborations facilitate statistical and computational genetic analyses by using a variety of bioinformatics approaches and tools to complement and enhance basic and clinical research.

The strength of the HGINJ reproductive genetics program lies within the overlapping interests and collaborative efforts of our basic science and clinical branch combined with expertise in statistical and computational genetics. With a focus on understanding the underlying genetics of reproductive biology, this group is at the forefront of developing ways to improve reproductive health.

 

Links

 

Center for Disease Control and Prevention

http://www.cdc.gov/nchs/fastats/fertile.htm

http://ovary.stanford.edu/ 

http://www.rmanj.com/

 

Jove videos:

Isolation and In vitro Activation of Caenorhabditis elegans Sperm
http://www.jove.com/video/2336/isolation-and-in-vitro-activation-of-caenorhabditis-elegans-sperm?ID=2336

Mouse Oocyte Microinjection, Maturation and Ploidy Assessment
http://www.jove.com/video/2851/mouse-oocyte-microinjection-maturation-and-ploidy-assessment

 

Lab pages