Ana Rodríguez, Author at Baylor College of Medicine Blog Network

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

From The Labs

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

May 5, 2017 brain tumor, genetic markers, Genetics, glioblastoma, Glioma

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

From The Labs

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

May 3, 2017 developmental disorders, Human genetics, intellectual disabilities, Mouse models, OTUD6B, physical disabilities, proteasome, whole exome sequencing

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

From The Labs

Image of the Month: Mouse brain with Batten disease

May 1, 2017 Juvenile Batten disease, lysosomal disorder, neurological disease, waste storage disorder

Juvenile Batten disease is one of nearly 50 human cellular waste storage disorders. In the Sardiello lab, researchers use genetics, cell biology and systems biology approaches

From The Labs

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

April 28, 2017 Fertility, in vitro fertilization, infertility gene, mouse model, NLRP genes

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

From The Labs

Neurons deep in brain are more active than once thought

April 26, 2017 Cerebellum, cognitive process, granule cell, neuron, Neuroscience

It’s the part of the brain that makes sure you cannot tickle yourself. The cerebellum, an apple-sized region near the base of the skull, senses

From The Labs

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

April 24, 2017 ATXN1-CIC, Autism, developmental delay, epilepsy, hyperactivity, intellectual disabilitis, Mouse models, Neuroscience

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

From The Labs

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

April 18, 2017 ABL1 gene, Cancer, Cardiovascular Disease, Genetics, genomic data, Human genetics, Marfan syndrome, Philadelphia chromosome

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

From The Labs

Mutations in CWC27 result in spectrum of conditions

April 13, 2017 blindness, craniofacial and skeletal problems, CWC27, Genetics, Retinitis pigmentosa, spliceosome, whole exome sequencing

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

From The Labs

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

April 11, 2017 cartilage, DDRGK1, dwarfism, Genetics, SEMD, Skeletal dysplasia, SOX9

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

Author: Ana Rodríguez

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

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

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

Image of the Month: Mouse brain with Batten disease

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

Neurons deep in brain are more active than once thought

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

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

Mutations in CWC27 result in spectrum of conditions

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