BCM-HGSC in the News

Baylor College of Medicine receives NIH funding to study somatic mosaicism - (Thursday, May 11, 2023)

As part of a new National Institutes of Health Common Fund program called the Somatic Mosaicism across Human Tissues (SMaHT) Network, Baylor College of Medicine researchers received three grants totaling more than $17.8 million over five years to develop state-of-the-art tools to catalog the extent of somatic mosaicism in different cell types, tissues and life stages, to better understand how much somatic mosaicism influences human biology and disease.

One of Baylor’s grants will establish a genome characterization center at Baylor’s Human Genome Sequencing Center.

National DNA Day 2023: Inside look at BCM’s Human Genome Sequencing Center - (Tuesday, April 25, 2023)

In a special segment for National DNA Day, Fox 26 Houston reporter Chelsea Edwards visits the Baylor College of Medicine Human Genome Sequencing Center and talks with Dr. Richard Gibbs and the HGSC team about the history of the center and the cutting-edge research taking place in genomics. 

Baylor College of Medicine Human Genome Sequencing Center celebrates 20 years since the completion of the Human Genome Project - (Thursday, April 13, 2023)

On April 14, 2003, the National Human Genome Research Institute and its international partners, including the Baylor College of Medicine Human Genome Sequencing Center (BCM-HGSC), announced the completion of the Human Genome Project and the successful generation of a highly accurate and publicly available reference sequence of the human genome. 

To celebrate the anniversary of completion of this unprecedented project, carried out from 1990 to 2003 and considered one of the most ambitious and important scientific endeavors in human history, From the Labs sat with Dr. Richard Gibbs, director of the BCM-HGSC since its establishment in 1996, to learn about the role BCM has played in this landmark global scientific effort.

The Human Genome Project Turns 20: Here's How It Altered the World - (Tuesday, April 11, 2023)

Marking the 20th anniversary of the announcement of the first complete sequencing of the human genome, Gizmodo takes a look at the achievements and ongoing legacy of the ambitious Human Genome Project (HGP). The tech website also interviews Dr. Richard Gibbs, founding director of the Baylor College of Medicine Human Genome Sequencing Center, which was one of five institutions that together contributed around 80% of the data for the HGP. 

GigaScience names Dr. Fritz Sedlazeck guest editor for new T2T series - (Monday, April 3, 2023)

Dr. Fritz Sedlazeck of the Baylor College of Medicine Human Genome Sequencing Center and Dr. Jue Ruan of the Agricultural Genomics Institute at Shenzhen, Chinese Academy of Agricultural Sciences, have been named guest editors of a new thematic series by GigaScience highlighting the telomere-to-telomere (T2T) approach to gapless sequences. The series will focus on T2T papers, including discussions of standards and definitions, datasets, methods and technologies.

Shining a light on dark genes - (Tuesday, March 7, 2023)

The PacBio blog takes a look at recent studies that examine the benefits of incorporating long-read sequencing in population genomics programs.  Recently, HGSC's Dr. Fritz Sedlazeck led a collaborative project with Twist Bioscience and PacBio to optimize a gene panel for HiFi long-read technology. The main result of this study has been made available as the Twist Alliance Dark Genes Panel. 

HiFi long-read sequencing brings more accuracy to population genomics studies - (Sunday, January 22, 2023)

The PacBio blog shares findings from a recent preprint of a technical pilot comparing short- and long-read sequencing. The pilot was conducted by groups participating in the All of Us program, including the Baylor College of Medicine Human Genome Sequencing Center

Dr. Bo Yuan named editor of genetics journal - (Friday, January 20, 2023)

Dr. Bo Yuan, associate professor of molecular and human genetics, recently was appointed editor-in-chief of Genetics in Medicine Open, an official journal of the American College of Medical Genetics (ACMG) that launched January 2023. It is a companion open-access journal of ACMG’s flagship publication, Genetics in Medicine.

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.

NIH funding supports genetic single-gene disorder research - (Thursday, July 15, 2021)

The National Institutes of Health will award nearly $80 million to support the establishment of the Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium and the development of novel methods and approaches that help researchers identify the genetic causes of single-gene diseases. Baylor College of Medicine will be one of five clinical sites included in the consortium. The National Human Genome Research Institute (NHGRI), part of NIH, will fund the consortium.

"Over the past 15 years, we have made tremendous strides in the field of genomic medicine and rare disease research,” said Dr. Jennifer Posey, assistant professor of molecular and human genetics at Baylor and one of the principal investigators of the Baylor site, with Dr. Richard Gibbs and Dr. James Lupski. “Despite this, about two-thirds of rare disease families still remain without an identified genetic cause of their condition. We now have the opportunity to address this challenge head-on by harnessing new approaches to study families with rare diseases.”

Find more information on the new consortium here.