Genetics in the News: October - December 2018

Protein connection shown to be major player in cancer growth

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.

Special issue of journal highlights ClinGen program

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.

Undiagnosed Diseases Network finds 31 new syndromes

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.

Grant funds somatic cell genome editing mouse models study

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.

Dynamin-binding protein linked to congenital cataracts

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.

Genetics in the News: July 2018 - September 2018

Baylor’s HGSC named an NIH All of Us research center

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. 

New gene therapy treatment for osteoarthritis

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. 

Previously undiagnosed neurological disorder linked to mutations in gene IRF2BPL

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.

Analytical tool predicts disease causing genes

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.

Genetics in the News: April - June 2018

Mutations in gene TRAF7 associated with multisystem disorder

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.

Sugar delays neurodegeneration caused by enzyme deficiency

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).

Scientists develop new approach to understand Huntington’s

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. 

Joint symposium brings advances in genetic research to Asia for second year

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

Dr. Meng Wang named Howard Hughes Investigator

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

Research reveals uncaptured genetic diversity in Botswana

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. 

Xia-Gibbs Syndrome study led to new patient registry

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

Zoghbi joins American Academy of Arts and Sciences

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.

New genetic tool will expand library of fruit flies

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).

Genetics in the News: January - March 2018

Women of Excellence Honorees

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. 

Primate genomics study reveals clues into AIDS resistance

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.

Baylor geneticists, oncologists host symposium in Japan

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.

Molecular Medicine awards Ross Prize to Huda Zoghbi

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.

credit: Elsevier Inc. 2018
Research reveals mechanism that drives ataxia type 1

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.

Baylor hosts high school educational genetics conference

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. 

Gene playing major role in neurological condition found

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.

Genetics in the News: November - December 2017

Trey Westbrook Named McNair Scholar

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. 

Baylor researchers recognized with prestigious AAAS honor

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

Defects in cell’s ‘waste disposal system’ linked to Parkinson’s

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.

Regulating asprosin levels might help control appetite, weight

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.

Genetics in the News: July - October 2017

Dr. Beaudet recognized for leadership in genetics

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.

Study reveals benefit of exome sequencing for infants in ICU

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.

Study shows accurately transcribing DNA overrides DNA repair

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.

Researchers map human genome in 4-D as it folds

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.

Jafar-Nejad Winner of the 2017 Glycobiology Significant Achievement Award

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.

Test reveals possible treatments for disorders involving MeCP2

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.

Grant to compare large-scale genomic sequencing, standard clinical tests for childhood cancer patients

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.