Genetics Archives - Page 3 of 10 - Baylor College of Medicine Blog Network

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

From The Labs

Image of the Month: Neuron-muscle synapses in the fruit fly

January 4, 2017 ATAD3A, Drosophila, fruit fly, Genetics, heart conditions, low muscular tone, neurological syndromes, Neuroscience

Certain human gene variants of ATAD3A can cause rare neurological syndromes characterized by global developmental delay, low muscular tone and visual, neurological and heart problems. The

From The Labs

Mouse Gata2 gene can affect female fertility and uterine susceptibility to cancer

November 30, 2016 estrogen, Fertility, Gata2, Genetics, human fertility, mouse fertility, progesterone, uterine cancer

Determining the cause of infertility can be a complex matter. Infertility may be the result of a problem in one or several of the multiple

From The Labs

How understanding tumor diversity can potentially improve the outcomes of patients with lung cancer

November 28, 2016 Cancer, Cancer Genome Atlas, cancer molecular profile, Genetics, Immunotherapy, immunue check point, lung cancer, lymphocyte infiltration

[See video below] “People may think of lung cancer as one disease, but lung cancer is a collection of diverse subtypes of cells and each

From The Labs

Research opens the possibility of new, noninvasive genetic prenatal testing

November 25, 2016 amniocnetesis, blood test, chorionic villus sampling, Genetics, prenatal testing, trophoblasts

Performing a routine prenatal test with a mother’s blood sample might be possible in the future, says a group of researchers. They have determined that