CRKL in 22q11.2; a key gene that contributes to common birth defects
Articles / Birth defects / Genetics

CRKL in 22q11.2; a key gene that contributes to common birth defects

The 22q11.2 region of human chromosome 22 is a hotspot for a variety of birth defects. Scientists learned about this region because it is deleted in about 1 in 4,000 births, causing the loss of up to 40 genes. This chromosome microdeletion can result in a number of developmental abnormalities that vary greatly in severity among … Continue reading

Largest study of malignant brain tumors finds new genetic markers for two distinct glioma subtypes
Articles / Genetics / Glioma

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

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

How do muscles grow up? Check alternative splicing
Articles / Genetics / muscular disorders

How do muscles grow up? Check alternative splicing

Growing up is a complex affair, even for muscles. In the mouse, for instance, newborn muscles grow into adult muscles within the first three weeks after birth. This transition allows a newborn mouse with limited ability to move to become an agile, fast-moving creature. During this transition, some of the newborn muscle proteins are replaced by adult … Continue reading

A pill to prevent Alzheimer’s disease might someday be a reality
Alzheimer's disease / Articles / Genetics

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