Genetics Archives - Page 3 of 11 - Baylor College of Medicine Blog Network

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

May 24, 2017 22q11.2, Birth defects, CRKL, cryptorchidism, DiGeorge syndrome, Genetics, genitourinary birth defects, hypospadias, kidney birth defects, mouse model

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

Policywise

Trade secrets and health data access: How policy plays a role

May 19, 2017 Center for Medical Ethics and Health Policy, Christi Guerrini, data sharing, Defend Trade Secrets Act, Genetics, Health Law, HIPAA, law, Patent Law, Trade Secret

A “quiet revolution” in medicine is underway that involves tailoring care to each patient’s unique genetic and health profile. To be successful, that revolution depends

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

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

From The Labs

How do muscles grow up? Check alternative splicing

January 30, 2017 alternative splicing, Genetics, heart muscle, muscular disorders, muscular dystrophy, myotonic dystrophy, skeletal muscle

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

From The Labs

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

January 18, 2017 Alzheimer's Disease, fruit fly model, Genetics, mouse model, Nuak1, Parkinson's Disease, tau

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

From The Labs

Improving the view on the genetic causes of retinitis pigmentosa

January 13, 2017 blindness, CRISPR/Cas9, Genetics, REEP6, Retinitis pigmentosa, visula impairment

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

From The Labs

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

January 11, 2017 Cancer, cancer evolution, DNA repair, E. Coli, Freeze-frames proteins, Genetics

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