How having too much or too little of CHRNA7 can lead to neuropsychiatric disorders

How having too much or too little of CHRNA7 can lead to neuropsychiatric disorders

Studying the genetic code allows researchers to know whether some patients with neuropsychiatric disorders either have extra copies of the CHRNA7 gene or are missing copies. However, little was known about the functional consequences of this genetic imbalance in brain cells. “For several years we have been studying patients with these conditions in different ways … Continue reading

Largest study of malignant brain tumors finds new genetic markers for two distinct glioma subtypes

Largest study of malignant brain tumors finds new genetic markers for two distinct glioma subtypes

In 2017, approximately 24,000 people will be diagnosed with malignant brain tumors and 17,000 will die from the disease in the United States. The most common form of malignant brain tumor is glioblastoma, which has a 5-year survival rate of less than 6 percent. “Until now our understanding of the risks of developing glioma has … 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 pill to prevent Alzheimer’s disease might someday be a reality

A pill to prevent Alzheimer’s disease might someday be a reality

Taking a pill that prevents the accumulation of toxic molecules in the brain might someday help prevent or delay Alzheimer’s disease, according to scientists at Baylor College of Medicine, Texas Children’s Hospital and Johns Hopkins University School of Medicine. The scientists took a three-pronged approach to help subdue early events that occur in the brain long before … Continue reading

Improving the view on the genetic causes of retinitis pigmentosa

Improving the view on the genetic causes of retinitis pigmentosa

Progressive development of night blindness and tunnel vision, sometimes from the early age of 2, are trademarks of retinitis pigmentosa. Being the most common inherited disorder of the retina, retinitis pigmentosa affects nearly 1 in 4,000 people. More than 1 million are visually impaired around the world due to this untreatable disease. A number of … Continue reading

“Freeze-frame” synthetic proteins capture DNA events leading to cancer

“Freeze-frame” synthetic proteins capture DNA events leading to cancer

Cancer scientists have focused on identifying signature genetic changes present in cancerous cells and understanding how these changes lead to cancer. Although this approach has delivered important advances, at Baylor College of Medicine Dr. Susan Rosenberg and colleagues wanted to get closer look at how these changes happen. “In my lab we study how the … Continue reading