Human genetics Archives - Baylor College of Medicine Blog Network

Dr. James R. Lupski has delivered more than 620 lectures in 37 countries, but none was received with nearly the same enthusiasm as his Mendel lecture this past June in Berlin.

From The Labs

And the awards go to…

January 30, 2024 Awards, cancer neuroscience, Gruber Prize, Human genetics, Marcus Foundation, MasSpecPen, Research, TAMEST

The new year started with a bang! at Baylor College of Medicine. Three faculty members have received major recognitions for their achievements in basic science research and technology development.

From The Labs

How having too much or too little of CHRNA7 can lead to neuropsychiatric disorders

November 28, 2017 Autism, calcium channel, cellular stress, CHRNA7, cognitive impairment, genetic condition, Genetics, Human genetics, neuron, Neuropsychiatric disorders, neuropsychiatric disordrs

Studying the genetic code allows researchers to know whether some patients with neuropsychiatric disorders either have extra copies of the CHRNA7 gene or are missing

From The Labs

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

June 19, 2017 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 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 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 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

Collaboration matters when looking for answers to undiagnosed diseases

February 10, 2017 data sharing, de novo mutation, developmental delay, Human genetics, NACC1, Rare Diseases, undiagnosed diseases, whole exome sequencing

It used to be that identifying genes involved in a particular disease was like finding a needle in a haystack. Nowadays, scientists still have to

From The Labs

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

December 9, 2016 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 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

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