Sometimes, scientists solve medical mysteries in a day’s work
Articles / Human genetics

Sometimes, scientists solve medical mysteries in a day’s work

It all began on a Thursday, the day Dr. Daryl Scott goes to clinic to visit patients. One of the patients was a young male with intellectual disability, developmental delay, macrocephaly (enlarged head) and very flexible joints. The genetics lab indicated that the patient did not seem to have any known genetic changes that could explain … Continue reading

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

Mouse blood vessels and immune system can team up against cancer metastasis
Articles / Breast cancer microenvironment

Mouse blood vessels and immune system can team up against cancer metastasis

Picture a shapeless, small mass of tumor cells inside an otherwise healthy organ. The tumor is growing, thanks, among other things, to its ability to trigger the formation of new blood vessels, a process called angiogenesis that supplies oxygen and nutrients to the cell mass. This discovery has led to therapies that aim at blocking … Continue reading

Bacteria living in your gut may help diagnose colorectal cancer
Articles / colorectal cancer / Microbiome

Bacteria living in your gut may help diagnose colorectal cancer

Those millions of bacteria living in your gut may someday be your allies in early detection of colorectal cancer, the second-leading cause of cancer-associated death in the United States. Individuals diagnosed early have a 90 percent chance of survival; however, more than 30 percent of individuals 50 years old or older, the high-risk group, indicate never … Continue reading

Mutated genes and rogue proteins can reveal new ways to treat breast cancer
Articles / breast cancer / personalized treatments

Mutated genes and rogue proteins can reveal new ways to treat breast cancer

Scientists are puzzled by mysteries such as, why a certain drug that induced one tumor to shrink in one patient did not affect the growth of a similar tumor in another patient? Each person’s cancer has a particular molecular signature that drives tumor growth, and identifying this signature can lead to personalized treatments that potentially … 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

Of mice, men and proteasomes; OTUD6B variant causes intellectual and physical disability
Articles / developmental disorders / Human genetics

Of mice, men and proteasomes; OTUD6B variant causes intellectual and physical disability

One of Dr. Magdalena Walkiewicz’s patients had not received a genetic diagnosis for his condition that included a number of intellectual and physical disabilities. After following the appropriate protocols, Walkiewicz, an assistant professor of molecular and human genetics at Baylor College of Medicine and assistant laboratory director at Baylor Genetics, ordered whole exome sequencing analysis. … Continue reading