Remembering Dr. C. Thomas Caskey - (Friday, January 14, 2022)
Dr. C. Thomas Caskey, a pioneer in genetics and genomics and a professor of molecular and human genetics at Baylor College of Medicine, has died at the age of 83. Caskey built the genetics program at Baylor from the ground up, founding what is known today as the Department of Molecular and Human Genetics and growing the department into a national leader in genetics. He is remembered for his contributions to genetic research and his dedication to mentoring and developing the next generation of scientists and physicians.
Rhesus macaque genome study enhances our understanding of human genetic variation - (Thursday, January 7, 2021)
Researchers at Baylor College of Medicine, the University of Missouri and the University of Washington have taken a major step toward improving our understanding of the genetic variation in the rhesus macaque, the most widely studied nonhuman primate in biomedical research.
“We have actually identified thousands of new mutations in the population of research animals. Now colleagues all over the country who are investigating various aspects of health and disease using rhesus macaques can begin to make use of that information,” said Dr. Jeffrey Rogers, associate professor at the Human Genome Sequencing Center and Department of Molecular and Human Genetics at Baylor and one of the corresponding authors of the study.
Unravelling arthropod genomic diversity over 500 million years of evolution - (Thursday, January 23, 2020)
An international team of scientists report in the journal Genome Biology results from a pilot project to kick-start the global sequencing initiative of thousands of arthropods. Comparative analyses across 76 species spanning 500 million years of evolution reveal dynamic genomic changes that point to key factors behind their success and open up many new areas of research. Dr. Stephen Richards launched the i5k pilot project at the Baylor College of Medicine Human Genome Sequencing Center to sequence, assemble, and annotate the genomes of 28 diverse arthropod species carefully selected from 787 community nominations.
Connecting gene mutations, rare genetic diseases - (Thursday, October 24, 2019)
Clinical exome sequencing has revolutionized genetic testing for children with inherited disorders, and Baylor College of Medicine researchers have led efforts to apply these DNA methods in the clinic. Nevertheless, in more than two-thirds of cases, the underlying genetic changes in children who undergo sequencing are unknown. Researchers everywhere are looking to new methods to analyze exome sequencing data to look for new associations between specific genes and those rare genetic diseases – called Mendelian disorders. Investigators at the Human Genome Sequencing Center have developed new approaches for large-scale analysis of Mendelian disorders, published today in the American Journal of Human Genetics.
The investigators used an Apache Hadoop data lake, a data management platform, to aggregate the exome sequencing data from approximately 19,000 individuals from different sources. Using information from previously solved disease cases, they established methods to rapidly select candidates for Mendelian disease. They found 154 candidate disease-associating genes, which previously had no known association between mutation and rare genetic disease, according to Adam Hansen, lead author of the study and graduate student in molecular and human genetics at Baylor.
“We found at least five people for each of these 154 genes that have very rare genetic mutations that we suspect might be causing disease,” Hansen said. “This shows the power of big data approaches toward accelerating the rate of discovery of associations between genes and rare diseases.”
“These computational methods solve the dual problems of large-scale data management and careful management of data access permission.” said Dr. Richard Gibbs, study author and professor of molecular and human genetics and director of the Human Genome Sequencing Center at Baylor. “They are perfect for outward display of data from the Baylor College of Medicine programs.”
Study builds roadmap for collecting, sequencing genetic data - (Thursday, August 22, 2019)
Precision medicine aims to deliver personalized treatment based on an individual’s genetics, environment and lifestyle. This approach depends on researchers’ ability to study DNA from people with and without clinical conditions. Often, clinical visits provide the perfect opportunity to collect those genetic samples. The National Institutes of Health has conducted a four-year study to harmonize and standardize clinical genetic reporting. The results are published online in the American Journal of Human Genetics.
The work of the NIH’s Electronic Medical Records and Genomics (eMERGE III) program coordinated activities at 11 clinical participant enrollment sites with two sequencing centers and a coordinating center to analyze the DNA of more than 25,000 participants enrolled through biobank programs. The Baylor College of Medicine Human Genome Sequencing Center was one of two Centralized Sequencing and Genotyping (CSG) Facilities, and performed the data generation, analysis and clinical data reporting for more than 14,500 of the 25,000 participants, in this phase of the program.
“Together with our colleagues in the eMERGE III Network we have built a roadmap for coordination of future efforts in precision medicine,” said Dr. Richard Gibbs, study author and director of the Human Genome Sequencing Center and professor of molecular and human genetics at Baylor College of Medicine. “All of the steps, from consenting individual participants, extracting DNA, sequencing, interpreting and returning clinical data, were coordinated and finessed.”