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.

Genetics in the News: June 2017

Researchers build SEQSpark to analyze huge genetic data sets

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.

Patient-inspired research uncovers new link to rare disorder

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.

Baylor scientist named early-career Pew-Stewart Scholar

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.

Newly revealed cellular pathway may lead to cancer therapies

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. 

Analyses of liver cancer reveals unexpected genetic players

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. 

Gut bacteria might one day help slow down aging process

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.

Fully sequenced deer genome made publicly available

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.

Genetics in the News: May 2017

Clinical excellence by faculty honored at award ceremony

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. 

International genetics symposium launches in Hong Kong

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

credit: BCM Creative Services
Baylor faculty honored with DeBakey awards

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.

Genetics in the News: April 2017

Mechanism of environment-microbe-host interactions revealed

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. 

Medical mystery solved in record time

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. 

Genetics in the News: March 2017

Zoghbi honored with Canada International Gairdner Award

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.

credit: Brandon Martin, Rice University
Scientists assemble Zika virus mosquito genome from scratch

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.

OTUD6B gene mutations cause intellectual, physical disability

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.

Gene mutation may be linked to unexplained female infertility

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. 

Mouse study helps find causes of human behavioral disorders

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.

Mutations in CWC27 result in spectrum of conditions

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.

Gene ABL1 implicated in cancer, developmental disorder

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. 

Genetic driver behind rare skeletal dysplasia condition found

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. 

Baylor’s Human Genome Sequencing Center looks to bring adult whole genome sequencing to clinical space with unprecedented NHLBI grant

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.

Genetics in the News: February 2017

Many genetic changes can occur early in human development

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.

$3.3M effort to map human genome’s intricate folding pattern

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. 

Research finds strategy that may treat juvenile Batten disease

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.

Genetics in the News: January 2017

Baylor geneticist receives Polish Presidential Scholar Award

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!

'Listening' to single cells may uncover cancer origins

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 launches PreSeek™ - 1st non-invasive prenatal multi-gene sequencing screen

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, PreSeekTM, to the commercial market. PreSeekTM 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.

Familial test helps detect genes that cause complex diseases

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.

Bipolar disorder and epilepsy linked to turning down an inhibitory switch in brain circuits

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