Changes in NLRP genes may be an answer to unexplained female infertility

Changes in NLRP genes may be an answer to unexplained female infertility

Scientists estimate that as many as 15 percent of couples with infertility and 50 percent of women with recurrent pregnancy loss do not have a diagnosis for their condition. Some of these women may have recurrent loss of pregnancies with abnormally developing placentas, loss of the embryo before implantation, or, more rarely, having a baby … Continue reading

From mouse model to human; serendipity leads to human genetic diagnosis

From mouse model to human; serendipity leads to human genetic diagnosis

When Dr. Huda Zoghbi and her colleagues were investigating the role protein complex ATXN1-CIC plays in the normal development of the mouse brain they did not expect their work would lead to finding a genetic cause of an undiagnosed human condition. “When we began this research, we were just curious about what the ATXN1-CIC complex normally does,” … Continue reading

No SOX9, no cartilage; and how DDRGK1 causes a rare human skeletal dysplasia

No SOX9, no cartilage; and how DDRGK1 causes a rare human skeletal dysplasia

SEMD, Shohat-type spondyloepimetaphyseal dysplasia, is a rare type of skeletal dysplasia that affects the development of cartilage and results in a form of dwarfism with a particular pattern of joint abnormalities, scoliosis and defects of the long bones. Similar skeletal disorders are linked to mutations in type II collagen (COL2A1) gene, but the gene causing SEMD … Continue reading

A striking number of genetic changes can occur early in human development

A striking number of genetic changes can occur early in human development

Dr. Pengfei Liu has a challenging job.  As the assistant laboratory director of Baylor Genetics and assistant professor of molecular and human genetics at Baylor College of Medicine, he is part of a team of researchers that evaluates young patients with a variety of developmental issues in order to determine the posibility of a genetic diagnosis of their condition. … Continue reading