Human genetics Archives - Baylor College of Medicine Blog Network

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

June 19, 2017 Ana Rodríguez 0 Comments developmental disability, flexible joints, gene datasets, GSPT2, Human genetics, MAGED1, X chromosme, Xp11.22

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

From The Labs

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

May 3, 2017 Ana Rodríguez 0 Comments 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

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

April 18, 2017 Ana Rodríguez 0 Comments 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

A striking number of genetic changes can occur early in human development

April 6, 2017 Ana Rodríguez 0 Comments Baylor Genetics, clinical genomic studies, copy number variants, de novo genetic changes, developmental disorders, embryonic development, Human genetics

Dr. Pengfei Liu has a challenging job. As the assistant laboratory director of Baylor Genetics and assistant professor of molecular and human genetics at Baylor College of Medicine, he

From The Labs

New mutations in gene PKD1L1 are associated with disarrangement of human internal organs

December 9, 2016 Ana Rodríguez 0 Comments congenital heart malformations, Human genetics, internal organ disarrangement, laterality defects, PKD1L1, pre-implantation genetic diagnosis, prenatal diagnosis

Scientists have linked gene PKD1L1 with disarrangement of human internal organs, known as laterality defects, and complex congenital heart disease. This discovery contributes to a

From The Labs

Genomic approaches can provide answers to undiagnosed primary immunodeficiency diseases.

November 18, 2016 Ana Rodríguez 0 Comments Genetic Sequencing, Human genetics, Immunology, molecular causes of disease, next generation genome sequencing, PIDD, primary immunodeficiency disease

Lea este artículo en español, aquí. An international team of physician-researchers set out to change the approach by which they genetically diagnose primary immunodeficiency diseases

From The Labs

$27.9 million from NIH to support Baylor’s Knockout Mouse Project

October 24, 2016 Ana Rodríguez 0 Comments Award, Genetics, Human genetics, International Mouse Phenotyping Consortium

Nearly $28 million has been awarded to Baylor College of Medicine’s Knockout Mouse Project led by Dr. Arthur Beaudet, professor of molecular and human genetics,

From The Labs

Variations in gene ATAD3A can result in distinct neurological syndromes

October 21, 2016 Ana Rodríguez 0 Comments ATAD3A, fruit fly, Human genetics, mitochondria, miyophagy, neurodevelopmental disorders

Research has revealed that a group of rare neurological syndromes for which there was no cause can be the result of variations in the gene