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.
› Read BCM news release› Read article in Cell Reports: Multilevel Genomics-Based Taxonomy of Renal Cell Carcinoma
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.
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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
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.
› Read post in BCM's From the Labs› Read full article in Nature Communications
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.”
› Read press release › Nature Communications: Unique features of a global human ectoparasite identified through sequencing of the bed bug genome
Combined whole exome tumor and blood sequencing in pediatric cancer patients revealed mutations that could help explain the cause of cancer or have the potential to impact clinical cancer care in 40 percent of patients in a study led by researchers from Baylor College of Medicine and Texas Children’s Cancer Center.
These findings point toward the usefulness of broad-based testing of both tumor and blood samples for children diagnosed with solid tumors, say study senior co-authors Dr. Sharon Plon, professor of pediatrics at Baylor, and Dr. Will Parsons, associate professor of pediatrics at Baylor and Texas Children’s Cancer Center.
The study, which appears in the current issue of JAMA Oncology, is part of the ongoing Baylor College of Medicine Advancing Sequencing in Childhood Cancer Care (BASIC3) project funded through a $6.6 million grant from the National Human Genome Research Institute and the National Cancer Institute.
“This is an important study and a powerful illustration of how genomic data can be effectively used by skilled physicians in a clinical context,” said Dr. Richard Gibbs, professor of molecular and human genetics and director of the Human Genome Sequencing Center at Baylor. Gibbs and Dr. Christine Eng, professor of molecular and human genetics at Baylor, lead the study’s efforts to perform genomic testing -- conducted at the WGL -- and evaluate results.
› Read press release› Read article in JAMA Oncology
Baylor College of Medicine centers will play major roles in newly announced National Human Genome Research Institute DNA sequencing programs designed to understand the genomics of both common and rare diseases.
Baylor College of Medicine’s Human Genome Sequencing Center was named one of four Centers for Common Disease Genomics. The center, under the leadership of Dr. Richard Gibbs, will receive a four-year $60 million grant to focus on the genomics of heart and blood vessel and metabolic diseases as well as neuropsychiatric disorders.
“2016 marks the 20th year since the inception of the Human Genome Sequencing Center and its continuing funding by the NHGRI,” said Gibbs. “We will continue the push to translate genomic discovery into medicine.”
› Read news release from Baylor College of Medicine› Read news coverage from Houston Chronicle
Researchers at Baylor College of Medicine have found genes associated with an autoimmune bleeding disorder called chronic immune thrombocytopenia, or ITP.
Dr. Jenny Despotovic, assistant professor of pediatrics at Baylor and Texas Children’s Cancer and Hematology Centers, presented the research Dec. 5 at the American Society of Hematology 57th Annual Meeting.
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.
› Read the press release› 73 Genes Influencing the Development and Severity of Chronic ITP Identified through Whole Exome Sequencing
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.
› Read the press release› Read article in Nature Genetics
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.
› Read the press release› Read article in Neuron› Video abstract
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