Baylor College of Medicine’s Human Genome Sequencing Center performed whole exome sequencing of DNA samples from the North American Chronic ITP Registry and the Platelet Disorders Center at the Weill-Cornell Medical Center. This work was done as a collaboration with the ITP Consortium of North America.
A genomic analysis of 37 patients with Sézary syndrome, a rare form of T-cell lymphoma that affects the skin and causes large numbers of atypical T-lymphocytes to circulate, reveals mutations in genes that affect T-cell signaling and those that interfere with cell cycle checkpoints that govern cell division, said researchers from Baylor College of Medicine and The University of Texas MD Anderson Cancer Center in a report in the journal Nature Genetics.
“These kinds of studies are taking us to the doorstep of personal genomics,” said Dr. David Wheeler, professor in the Baylor College of Medicine Human Genome Sequencing Center and a corresponding author of the paper.
“This research is important because it identifies genes that may be important in this rare cancer,” said Dr. Linghua Wang, assistant professor of molecular and human genetics at Baylor and lead author of the study.
In a study that appears in the journal Neuron, researchers at Baylor College of Medicine -- including those from the Human Genome Sequencing Center -- and a large swath of Turkish medical professionals evaluated the genetics behind brain disorders and malformations. They found variants of genes known to cause such problems and new mutations in genes not known to be involved before. Along with that, they identified structural deviations such as the duplications or deletions known as copy number variations in different chromosomes.
An international consortium, including the Baylor College of Medicine Human Genome Sequencing Center, sequenced and analyzed the genomes of more than 2,500 individuals from 26 populations and mapped more than 68,000 structural variants in the individuals. Dr. Fuli Yu, assistant professor with BCM-HGSC, discusses the newly released report from the final phase of the 1000 Genomes Project and the resulting technologies -- including those pioneered at HGSC -- that have improved the identification of structural variants.
Dr. Richard Gibbs, director of the Baylor College of Medicine Human Genome Sequencing Center, was announced as one of 13 new Faculty Fellows of the Texas A&M University Institute for Advanced Study in recognition of his work in the field of genetics. Gibbs will collaborate with faculty-researchers and graduate students in the Texas A&M Health Science Center College of Medicine.
In this article from the Texas Medical Center News website, Dr. Richard Gibbs, director of BCM-HGSC, discusses the advances in genomics research and the opportunities for collaboration between TMC member institutions through the TMC Genomics Institute.
The effort, called the Electronic Medical Records and Genomics (eMERGE) network, focuses on understanding the genomic basis of disease and tailoring medical care to individual patients based on their genomic differences. The Human Genome Sequencing Center will serve as one of two genome sequencing and genotyping facilities and will perform DNA sequence generation on 12,500 patients.
Next-generation sequencing performed at HGSC zeroed in on the gene that caused a genetic disorder for twins Noah and Alexis Beery, enabling physicians to hone their treatment. In this update published in BCM's Momentum blog, Retta Beery recalls the medical odyssey of her twin children and the life-changing results of whole genome sequencing.
In partnership with HGSC, researchers at the University of Melbourne have decoded the genome of the Australian sheep blowfly, Lucilia cuprina, adding ammunition to the battle against one of that nation's most insidious pests.
Around 2,000 genes not seen before in any other organism were discovered. These genes can now be investigated as potential drug and vaccine targets. This blowfly is responsible for over $200 million in losses to Australia's sheep industry each year from flystrike.