Genetics in the News

A team of researchers at Baylor College of Medicine and Texas Children’s Hospital have revealed a connection between mTORC1 and Src, two proteins known to be hyperactive in cancer. The study, published in the journal Nature Communications, shows that Src is necessary and sufficient to activate mTORC1.

A special issue of the journal Human Mutation contains 25 papers related to the activities of the National Human Genome Research Institute-funded Clinical Genome Resource program (ClinGen) and ClinVar, a large database supported by the National Center for Biotechnology Information. ClinGen was launched in 2013 and includes leading faculty from Baylor College of Medicine who played key roles in developing and advancing the program.

The Undiagnosed Diseases Network (UDN), a multi-institutional consortium of researchers has found 31 new syndromes and has been able to make diagnoses for 132 patients within two years of the group’s inception. These findings are described in the current edition of the New England Journal of Medicine.

As part of a larger effort of the NIH’s Somatic Cell Genome Editing (SCGE) program, researchers at Baylor College of Medicine and Rice University have been awarded a U42 grant to create mouse model resources for testing the therapeutic potential of novel genome editing approaches.

An international team of researchers has found compelling evidence that links dynamin-binding protein (DNMBP) to congenital bilateral cataracts and severe vision loss. The study appears in the American Journal of Human Genetics.

NIH's All of Us Research Program has named a consortia led by the Baylor College of Medicine Human Genome Sequencing Center (BCM-HGSC) as one of three centers responsible for generating clinical grade genomic data for the program. 

In a study appearing in Arthritis and Rheumatology, Researchers at Baylor College of Medicine have identified a potential strategy for treating osteoarthritis using gene therapy to inhibit the interleukin-1 pathway. 

An international team of scientists, including researchers from Baylor College of Medicine, has discovered that mutations of the gene IRF2BPL are associated with a previously undiagnosed neurological disorder in seven unrelated individuals.

An international team of researchers, including researchers from Baylor College of Medicine, have developed a new analytical tool to effectively and efficiently predict genes that can cause disease due to the production of truncated or altered proteins that take on a new or different function.

A team of researchers have identified four different mutations in the gene TRAF7. by sequencing the protein-coding genes of the genomes of patients presenting with a similar disorder of unknown origin.

In a report in the journal Autophagy, researchers found that sugar trehalose increases cellular waste disposal and improves the neurological symptoms in a mouse model of the disease, mucopolysaccharidoses IIIB (MPS IIIB).

With the use of a high-throughput, multi-pronged approach that integrates laboratory experiments, data from published literature and network analysis of large datasets, a team of scientists uncovered the functional significance of various molecular changes in Huntington's Disease. 

For the second year, top geneticists from around the world gathered for the Joint Symposium in Clinical Genetics and 14^th Asia Pacific Congress in Maternal Fetal Medicine in Hong Kong.

Congratulations to Dr. Meng Wang! Dr. Wang has been named a Howard Hughes Medical Institute (HHMI) Investigator at Baylor. 

In a study appearing in the American Journal of Medical Genetics, one of the first data-driven, population-based genomic studies have found significant diversity in the genetic makeup of a population from the southern region of the African continent. 

Researchers at the Human Genome Sequencing Center at Baylor College of Medicine have conducted a study of 20 individuals with Xia-Gibbs Syndrome and have established a registry to collect genetic and other clinical information from patients with the condition. The results of this study appears in the American Journal of Medical Genetics. 

Dr. Huda Y. Zoghbi has been elected one of the newest members of the American Academy of Arts and Sciences, one of the nation’s most prestigious honorary titles.

A study published in eLife by the Bellen Lab reports on the development of a large versatile library of fruit flies that can be used to perform in vivo gene-specific manipulations using the new protocol and gene-specific integration vector CRIMIC (CRISPR-Mediated Integrated Cassette).

Congratulations to following department faculty and staff who were recognized by Baylor College of Medicine as Women of Excellence: Stephenie Chargois, Neva Durand, Claudia Fonseca, Pilar Magoulas, Jill Mokry, Debra D. Murray, Salma Nassef, Jennifer Posey, and Lisa White. 

Researchers from the Baylor Human Genome Sequencing Center and Emory University set out to sequence and analyze the genomes of two nonhuman primates to develop new insights into the behavior of the HIV virus in humans. The research appears in Nature.

The Department of Molecular and Human Genetics and the Dan L Duncan Comprehensive Cancer Center hosted their first joint United States - Japan Clinical Cancer Genomics and Personalized Medicine Symposium in Tokyo, Japan.

Congratulations to Dr. Huda Zoghbi! Dr. Zoghbi was awarded the sixth annual Ross Prize in Molecular Medicine by The Feinstein Institute for Medical Research at Northwell Health.

A group of researchers in the Zoghbi lab discovered that polyQ-ATAXIN1 and a partner molecule called capicua form a neurodegeneration complex that is able to disrupt the expression of a number of genes in neurons in animal models of the condition, spinocerebellar ataxia type 1. The study appears in the journal Neuron.

For the 10th year, the Department of Molecular and Human Genetics at Baylor College of Medicine hosted a genetics educational conference for Advanced Placement Biology students at Bellaire High School in Houston. 

Researchers are closer to solving the puzzle of a complex neurological condition called 15q13.3 microdeletion syndrome after they identified which gene is responsible for patients' clinical characteristics.

Dr. Trey Westbrook has been named the newest McNair Scholar at Baylor College of Medicine. This recognition will support his work focused on discovering the genes and mechanisms that drive breast cancer and developing the next generation of cancer medicines. 

Drs. Philip Hastings and Jeffrey Noebels have both been named 2017 fellows of the American Association for the Advancement of Science.

An international group of researchers led by Dr. Laurie Robak, has identified a group of lysosomal storage disease genes as potential major contributors to the onset and progression of Parkinson's disease. The results of this study appear in the journal, Brain.

A group of researchers led by Dr. Atul Chopra have recently conducted studies on the hormone asprosin which reveal that it also has an affect on the brain, stimulating the hunger center in the hypothalamus to control appetite and body weight. This opens an intriguing possibility for developing novel treatments for obesity. The study appears in the journal Nature Medicine.

The American Society of Human Genetics has honored Dr. Arthur L. Beaudet, Henry and Emma Mayer Professor in the Department of Molecular and Human Genetics at Baylor College of Medicine, with the 2017 Victor A. McKusick Leadership Award.

A team of physicians and researchers from Baylor College of Medicine, Texas Children’s Hospital and Baylor Genetics designed a study to determine the efficacy of exome sequencing in intensive care units. The results appear in JAMA Pediatrics.

In a study reported in the journal Nature, researchers in the laboratories of Drs. Christophe Herman and Susan Rosenberg have found that in the model organism E. coli, the fidelity of transcribing DNA comes at the expense of DNA repair.

A multi-institutional team of researchers has created the first high-resolution 4-D map of genome folding, tracking an entire human genome as it folds over time. The report appears on the cover of Cell.

Dr. Hamed Jafar-Nejad, associate professor of molecular and human genetics, was selected as the winner of the 2017 Glycobiology Significant Achievement Award given by Oxford University Press, publisher of Glycobiology. This award is presented to a new or mid-career scientist who has made a key discovery during their early career with potential impact on the glycoscience community.

In a paper published in Science Translational Medicine, a multi-institutional team of researchers has developed a strategy that allows them to identify potential treatments that would restore altered levels of MeCP2.

A four-year grant co-funded by the National Cancer Institute and the National Human Genome Research Institute’s Clinical Sequencing Evidence-Generating Research Consortium, will support Baylor’s new KidsCanSeq program that will compare the results of large-scale genomic testing, such as whole exome sequencing, to targeted clinical tests in childhood cancer patients at five sites across the state that serve a highly diverse patient population.