BCM-HGSC in the News

Baylor Genetics rebrand makes debut with simplified name, targeted message - (Friday, July 22, 2016)

Baylor Miraca Genetics Laboratories, a joint venture of Baylor College of Medicine and Miraca Holdings, Inc., has rebranded as Baylor Genetics. 

Baylor has provided diagnostics services for more than 35 years, and is the No. 1 funded genetics department by the National Institutes of Health. Additionally, Baylor is home to one of four U.S.-based large scale genome sequencing centers funded by the NIH, the Human Genome Sequencing Center. Baylor Genetics was launched in February 2015, building on Baylor’s genetic testing services.

Gary Huff, Baylor Genetics President and CEO, explains, “Our new identity - firmly associated with Baylor College of Medicine and the partnership with the Human Genome Sequencing Center - plays to those strengths and to the needs of today’s genetic counselors, physicians, payers and patients who require in-depth answers and support.”

› Read BCM press release
› Baylor Genetics

Study identifies a new rare genetic syndrome associated with severe infections and lung disease in infants - (Monday, July 18, 2016)

An international team of researchers has identified a new rare genetic condition – a chromosome breakage syndrome associated with severe infections and lung disease in infants. The discovery provides an explanation for this deadly pulmonary disease, possibilities to diagnose it and opportunities for developing alternate ways to treat it. The results appear in the Journal of Clinical Investigation.

Independently from each other, a team of researchers at Baylor College of Medicine and a team at the University Medical Center Utrecht in The Netherlands identified a local family with two young children with severe infections and lung disease. 

In collaboration with Dr. David Wheeler, professor of molecular and human genetics at Baylor, Dr. Deborah Ritter, research scientist of pediatrics at the Human Genome Sequencing Center at Baylor and Texas Children’s Hospital, compared the sequencing data from one pair of siblings' genes with the data in newer databases containing genetic info from tens of thousands of individuals. Ritter’s work strongly suggested that the mutations of NSMCE3 gene present in the infants were responsible for the severe lung disease and infections that affected the children.

Primate brain development can help explain human developmental disorders - (Wednesday, July 13, 2016)

Scientists have elucidated the genetic programs that guide the formation and development of specific regions within the brain of rhesus monkeys. This study, the results of which appear in Nature, is important because it can help better understand how the human brain develops and identify neurodevelopmental processes involved in disorders such as autism spectrum disorders and schizophrenia. 

This work was designed and directed by investigators from the Allen Institute for Brain Sciences in Seattle and involved dozens of scientists from various institutions across the world, including Baylor College of Medicine. Dr. Ed Lein, investigator at the Allen Institute, and colleagues created a high-resolution atlas of the development of rhesus monkey brain that uncovers, in fine levels of anatomical detail, how gene expression changes across time, from early gestation to young adulthood. 

At the Human Genome Sequencing Center (HGSC) at Baylor, Dr. Jeffrey Rogers, associate professor of molecular and human genetics, and Dr. Richard Gibbs, professor and Wofford Cain Chair of molecular and human genetics, and director of the HGSC, contributed to this work by helping to associate observed changes in gene expression during development with significant human disease characteristics.

Tiny, Unseeing Mite Defies Expectations - (Monday, June 27, 2016)

Genome Biology and Evolution highlights the findings from sequencing the genome of Metaseiulus occidentalis, an agriculturally important predatory mite. Dr. Stephen Richards, coauthor of the highlighted paper, reflects on the intriguing results that reveal a surprising arrangement of Hox genes in this mite.

Complete genome sequenced of Elephant Endotheliotropic Herpesvirus 4 - (Friday, June 17, 2016)

The complete genome of Elephant Endotheliotropic Herpesvirus 4, known as EEHV4(Baylor), has been sequenced by researchers at Baylor College of Medicine and the Johns Hopkins School of Medicine, revealing unique characteristics of this particular species of Elephant Endotheliotropic Herpesvirus – which causes a deadly disease that affects Asian elephants in both managed care and free-range environments.

The findings appear in the current edition of mSphere from the American Society of Microbiology.

“The deadly form of the disease is predominantly associated with EEHV1, but milder disease has been caused by EEHV5 or EEHV4, of which less is known,” said Dr. Paul Ling associate professor of molecular virology and microbiology at Baylor. “Here, we have determined the complete genomic DNA sequence, completed by the Human Genome Sequencing Center at Baylor, of a species of EEHV4 obtained from a trunk wash sample collected from a surviving Asian elephant calf after suffering from EEHV4.”

Largest genomic study on kidney cancer brings hope for more effective treatments - (Friday, March 4, 2016)

Understanding the complexity of cancer is a major goal of the scientific community, and for kidney cancer researchers this goal just got closer. Dr. Chad Creighton, associate professor of medicine, member of the Dan L Duncan Comprehensive Cancer Center Division of Biostatistics at Baylor College of Medicine and affiliated faculty member of the Human Genome Sequencing Center, led the study that analyzed close to 900 kidney cancers at the molecular level. The team discovered that what have historically been considered three major types of kidney cancer according to their characteristics under the microscope, could be further distinguished into nine major subtypes through molecular analyses. Each subtype was unique in terms of altered molecular pathways and patient survival. This study made use of data from The Cancer Genome Atlas.

Creighton and colleagues’ findings are important because they help pave the way toward more effective personalized medicine. Each kidney cancer has unique characteristics. As a result, different cancers may respond differently to the same treatment. Understanding what makes each kidney cancer unique can provide clues to finding targets for effective therapies. The nine subtypes discovered by Creighton and colleagues were found to have therapeutic implications.

New research into the genetic basis of mesothelioma opens doors for better treatment - (Sunday, February 28, 2016)

Malignant pleural mesothelioma is a deadly malignancy caused by asbestos that affects more than 3,000 individuals in the United States each year. The five-year survival of mesothelioma has increased to about 10 percent at five years with aggressive multimodality therapy, but a report published in Nature Genetics provides new hope for more effective treatments.

Dr. David Sugarbaker, professor of surgery and director of the Mesothelioma Treatment Center and Lung Institute at Baylor College of Medicine, co-authored this study with physician-researchers from the International Mesothelioma Program at Brigham and Women's Hospital, a program founded by Sugarbaker.

The Baylor College of Medicine Human Genome Sequencing Center currently provides genetic testing for patients seen at the Mesothelioma Treatment Center in Houston.

“The Baylor Human Genome Sequencing Center, one of the nation’s largest genomic centers, will provide a powerful platform with which we will continue to investigate and identify potentially actionable new mutations. We will continue to move aggressively to provide this analysis to our patients coming to the MTC in order to pursue more effective therapies for every patient,” said Sugarbaker.

Whole genome sequencing advances pancreatic tumor classification - (Thursday, February 25, 2016)

Researchers from the Human Genome Sequencing Center and the Elkins Pancreas Center at Baylor College of Medicine have collaborated with researchers in the United Kingdom and Australia in a breakthrough reclassification of pancreatic cancer, offering new opportunities to treat the often-fatal disease. Their report was published online Feb. 24 in Nature.

Through the study, whole genome sequencing was performed on more than 450 patients with pancreatic cancer. Several new genes involved in the disease were identified. Most importantly, the study found four key subtypes of the cancer, with each possessing their own distinct clinical characteristics and differential survival outcomes.

› Read BCM news release
› Read article in Nature

Researchers discover genetic cause of second-most common kidney cancer in children - (Tuesday, February 16, 2016)

A genetic mutation associated with clear cell sarcoma of the kidney that has opened a new path of research and could point the way toward a new diagnostic test for the disease, said researchers from Texas Children’s Cancer and Hematology Center and Baylor College of Medicine in a study in Nature Communications.

The collaborative research team used a combination of whole exome sequencing and whole-transcriptome (RNA) sequencing to characterize the genomic landscape of this disease. They initially detected a mutation in the BCOR gene, which is involved in regulating cell differentiation through epigenetic mechanisms, in a single patient with clear cell sarcoma of the kindey. Further investigation then led to the discovery of recurrent duplication mutations within the gene in 85 percent of those with the disease, but not in other childhood kidney tumors, such as Wilms tumors.

Blood sucking fated in bed bug’s genome - (Tuesday, February 2, 2016)

In a report that appears in the journal Nature Communications, an international consortium of scientists describe the sequence of the 650 megabase genome of the Cimex lecturlarius, the common bed bug. Within the code of the 14,200 genes that provide the blueprint for the workhorse proteins of the cell, they found genes linked to reproduction, the genes that attract the insects to human blood and several mechanisms that could lead to pesticide resistance.

“There are consequences of the bed bugs’ vampire tendencies,” said Dr. Stephen Richards, associate professor in the Baylor College of Medicine Human Genome Sequencing Center. “Their blood meals make them swell up, and they have cuticle genes that give them the flexibility to do that. Blood is a liquid diet, and they have water channels that allow them to deal with the sheer amount of fluid. They have the olfactory and vision repertoire similar to other dawn-to-dusk insects.”

“It’s no surprise we like to kill them. However, that is becoming more difficult. We now have a list of all the genes that can be involved in resistance to pesticides.”