Genetics in the News

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.

A team led by Dr. Suzanne Leal has developed new software called SEQSpark, which increases the speed and efficiency of  performing quality control, annotation, and rare variant association analysis on the large data sets resulting from large sample sizes and massively parallel sequencing technologies. A study about this new software appears in the American Journal of Human Genetics.

A multi-institutional team of scientists led by Drs. Michael Wangler and Hugo Bellen have discovered that Zellweger syndrome, also known as peroxisomal biogenesis disorder, is not only linked to lipid or fat metabolism but also affects sugar metabolism. The paper about the work leading to this discovery appears Plos Genetics.

Congratulations to Dr. Charles Lin who has been named one of five 2017 Pew-Stewart Scholars. The Pew-Stewart Scholars for Cancer Research, presented by the Pew Charitable Trusts and Margaret Stewart Trust, honors select early-career scientists who are leading groundbreaking research with the aim to find cures for cancer.

In a study that appears in the journal Science, Dr. Andrea Ballabio and his colleagues have discovered a new cellular pathway that can promote and support the growth of cancer cells. The group also discovered that blocking this pathway resulted in the reduction of tumor growth. 

In a paper appearing in Cell, a nation-wide team of genomics researchers co-led by David Wheeler, Director of Cancer Genomics and Professor in the Human Genome Sequencing Center (HGSC) at Baylor College of Medicine, and Lewis Roberts, Professor of Medicine at the Mayo Clinic, analyzed 363 liver cancer cases from all over the world gathering genome mutations, epigenetic alteration through DNA methylation, RNA expression and protein expression in an effort to learn more about the causes of liver cancer and to identify potential new therapeutic targets for Hereditary Colon Cancer. 

In a study appearing in Cell, a multi-institutional group of scientists that includes researchers in the Meng Wang and Christophe Herman Labs at Baylor College of Medicine have identified bacterial genes and compounds that extend the life of and also slow down the progression of tumors and the accumulation of amyloid-beta, a compound associated with Alzheimer’s disease, in the laboratory worm C. elegans.

Researchers at Baylor College of Medicine have played a leading role in sequencing the whole genome of the common white-tailed deer, which has recently been made public by the National Center for Biotechnology Information.

Congratulations to Dr. Carlos Bacino for being one of a group of Baylor College of Medicine faculty members that were recognized for excellence in patient care at the Faculty Awards Day Ceremony on May 18. 

The world’s top geneticists convened for the first-ever Joint Symposium in Clinical Genetics May 19 - 21, 2017 in Hong Kong. 

Congratulations to Dr. Benjamin Arenkiel who was named as one of the five winners of the 2017 Michael E. DeBakey Award for Excellence in Research.

In a paper published in Nature Cell Biology, Researchers in the Meng Wang Laboratory have dissected for the first time a molecular mechanism by which E. coli bacteria can regulate C. elegans’ lipid storage. 

In a study published in PLoS ONE, a team of researchers reports solving a medical mystery in a day’s work. The team, including Drs. Seema Lalani and Daryl Scott, were able to narrow down the genetic cause of intellectual disability in four male patients to a deletion of a small section of the X chromosome that had not been previously linked to a medical condition. 

Dr. Huda Zoghbi is being honored by the Gairdner Foundation with the 2017 Canada Gairdner International Award for seminal discoveries and contributions to biomedical science.

A multi-institutional team that includes scientists from the Center for Genome Architecture at Baylor College of Medicine has developed a new method to sequence genomes, which can assemble the genome of an organism, entirely from scratch, dramatically cheaper and faster. The report appears in Science.

An international team of researchers that includes Drs. Teresa Sim, Magdalena Walkiewicz, Lindsay Burrage, and Jason Heaney, has discovered that mutations of the OTUD6B gene result in a spectrum of physical and intellectual deficits. The study appears in the American Journal of Human Genetics.

In a study appearing in Scientific Reports, researchers in the Van den Veyver laboratory, have uncovered that a gene mutation may provide answers to unexplained female infertility. 

Scientists in the Zoghbi lab studying the role of a protein complex in the normal development of the mouse brain created a mouse model that mirrors clinical symptoms of patients with complex neurological disorders such as hyperactivity, learning deficits and social behavior abnormalities. Careful study of this mouse model led to the discovery of the genetic cause of the human neurological condition of five patients who, until now, had not received a genetic diagnosis. The results of this study were published in Nature Genetics.

An international team of scientists, which included Dr. Rui Chen and graduate student, Mingchu Xu, has discovered that mutations in the human gene CWC27 result in a spectrum of clinical conditions that include retinal degeneration and problems with craniofacial and skeletal development. The results appear in the American Journal of Human Genetics.

ABL1, a human gene well-known for its association with cancer now has been linked to a developmental disorder. The study, which was carried out by an international team of researchers that included Drs. Xia Wang, Christian Schaaf, and Yaping Yang from Baylor,  appears in Nature Genetics. 

Dr. Brendan Lee and a team of researchers have identified a previously uninvolved gene behind a particular form of chondrodysplasia, a skeletal dysplasia that affects cartilage formation and causes disproportionate short stature and premature osteoarthritis. The results of this study have been published in the Journal of Clinical Investigation. 

The National Heart Lung and Blood Institute’s Trans-Omics for Precision Medicine program has named the Human Genome Sequencing Center at Baylor as a participant in a half-billion dollar program to bring whole genome sequencing to the forefront of clinical research.

In a study that appears in this month's issue of Cell,  an international team of researchers has uncovered a rare phenomenon where a burst of genetic changes happens only during the early stages of embryonic development.

The National Institute of Health has selected the Center for Genome Architecture at Baylor College of Medicine as one of the eight laboratories that will be responsible for mapping how the genome folds inside the nucleus of about 100 different types of cells. The center, led by Dr. Erez Liberman Aiden, has received $3.3 million to fund its role in the project. 

Researchers from the Sardiello Laboratory at Baylor College of Medicine, the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital and King’s College London have discovered a treatment that improves the neurological symptoms in a mouse model of juvenile Batten disease. The study appears in Nature Communications.

Dr. Pawel Stankiewicz was honored with the Polish Presidential Scholar Award of Full Professor, the highest scientific title in Poland, celebrating his career in medical sciences. Congratulations Dr. Stankiewicz!

In a study appearing in Nature Methods, Scientists in the Zong laboratory have developed a method that allows them to accurately determine genes expressed in single cells. Among other applications, this method will be useful in examining how cancerous tumors begin which could lead to better diagnosis, prevention and treatments.

Baylor Genetics is once again making its mark on the genetic testing industry by introducing the first clinical non-invasive prenatal multi-gene sequencing screen, PreSeek^TM, to the commercial market. PreSeek^TM goes further than current non-invasive prenatal screening tests by sequencing cell-free fetal DNA for pathogenic disease-causing or likely pathogenic variants associated with select single-gene conditions.

A new test called the rare-variant generalized disequilibrium test (RV-GDT) has been developed by Dr. Suzanne Leal and a team of researchers at Baylor College of Medicine. This new method improves the detection of rare genetic variants involved in complex diseases such as Alzheimer's.

Genetics Ph.D. student Angel Lopez and mentor Dr. Edward C. Cooper analyzed the expression of ANK3 to better understand causes of bipolar disorder and links between epilepsy and bipolar. The results of this study appear Molecular Psychiatry.