Changes in NLRP genes may be the answer to unexplained female infertility
Articles / Fertility

Changes in NLRP genes may be the 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
Articles / Neuroscience

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

ABL1 gene plays a role in cancer and in a developmental disorder
Articles / cardiovascular disease / Genetics

ABL1 gene plays a role in cancer and in a developmental disorder

The human gene ABL1 is well-known for its association with cancer. In this case, a piece of chromosome 9 containing the ABL1 gene and a piece of chromosome 22 break off and switch places. The ABL1 gene fuses with the BCR gene in chromosome 22, which is then called the Philadelphia chromosome. Bone marrow cells … Continue reading

Mutations in CWC27 result in spectrum of conditions
Articles / Genetics / Retinitis pigmentosa

Mutations in CWC27 result in spectrum of conditions

Mingchu Xu searches for genes linked to retinitis pigmentosa, a condition of the retina characterized by progressive development of night blindness and tunnel vision, sometimes from the early age of 2. Retinitis pigmentosa is the most common inherited disorder of the retina; it affects nearly 1 in 4,000 people, and more than 1 million are visually … Continue reading

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

The underappreciated astrocyte; a vital link between brain tumors and epileptic seizures
Articles / Epilepsy / glioblastoma

The underappreciated astrocyte; a vital link between brain tumors and epileptic seizures

The brain has billions of cells of which only 30 percent are neurons. Astrocytes are the predominant cell type of the remaining 70 percent. Surprisingly, astrocytes have not been studied in as much detail as neurons have. “We began this project by studying normal brain cells,” said co-senior author Dr. Benjamin Deneen, associate professor in … Continue reading