Genetics in the News: June 2017

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

Genetics in the News: December 2016

Genes Nardilysin and OGDHL linked to human neurological conditions

An international team of scientists, led by Drs. Wan Hee Yoon and Michael F. Wangler, has discovered that the gene, OGDHL, a key protein required for normal function of the mitochondria and its chaperone, nardilysin (NRD1) are linked to progressive loss of neurological function in humans. The results of this study appear in Neuron.

Genetic cause identified for previously unrecognized developmental disorder

An international team of scientists has identified variants of the gene EBF3 that can cause a developmental disorder with similar features to what is seen in autism spectrum disorders. The study appears in the American Journal of Human Genetics.

New mutations in gene PKD1L1 are associated with disarrangement of human internal organs

Scientists at Baylor Genetics have linked gene PKD1L1 with disarrangement of human internal organs, known as laterality defects, and complex congenital heart disease.

Scientists can now better diagnose diseases with multiple genetic causes

A multi-institutional team of scientists are combining descriptions of patients' clinical features with their complex genetic information in an effort to obtain more precise diagnoses of complex diseases, particularly those that involve more than one gene causing the condition. The study is published in the New England Journal of Medicine.

Dr. Meng Wang honored with 2017 Edith and Peter O’Donnell Award

Dr. Meng Wang has been awarded the 2017 Edith and Peter O’Donnell Award in Medicine from the Academy of Medicine, Engineering and Science of Texas.

Dr. Huda Zoghbi awarded the 2017 Breakthrough Prize in Life Sciences

Established in 2012 by Russian billionaire Yuri Milner and tech pioneers such as Sergey Brin and Mark Zuckerberg, The Breakthrough Prizes for Scientific Achievements were created to recognize geneticists, biologists, physicists, and mathematicians for their groundbreaking work. Dr. Huda Zoghbi is one of this year's five recipients to be awarded the Breakthrough Prize in Life Sciences. Each recipient is awarded a $3 million prize. Congratulations Dr. Zoghbi!

Genetics in the News: November 2016

Baylor College of Medicine launches new residency program in internal medicine and genetics

A new residency program for medical students interested in pursuing adult medical genetics is being developed by the departments of medicine and molecular and human genetics. The four year internal medicine-genetics program is expected to welcome its first class in July 2017. 

New synthetic protein captures DNA events leading to cancer, opens possibilities for improved cancer therapies

In a report that appears in Science Advances, a multi-institutional team of scientists have developed a technology that has allowed them to identify molecular intermediates that drive the genetic changes that transform normal cells into cancerous cells. 

Evenings with Genetics event featured in TMC News

Kristen Powers, one of the speakers of Evenings with Genetics seminar that took place on Nov. 3 has been featured in TMC News. 

Cancer Prevention and Research Institute of Texas Awards

Dr. Brendan Lee and Dr. Kenneth Scott have been awarded research grants from the Cancer Prevention and Research Institute of Texas. Congratulations Dr. Lee and Dr. Scott! 

Unraveling what happens inside a tumor; new method opens opportunities to improve diagnosis and treatment

In a study that appears in Cell Reports, a multi-institutional team of researchers, that includes senior author, Aleksandar Milosavljevic and first author, Vito Onuchic, has developed an innovative computational approach to unravel the complexity of breast cancer tumors. This approach allows researchers the ability to identify the different types of cells in the tumor and to show how the interactions between cancer and normal cells may set up the fate of the tumor. 

Genomic approaches can provide answers to undiagnosed primary immunodeficiency diseases

An international team of researchers used comprehensive genomic analysis to identify genes potentially causing nearly 280 undiagnosed primary immunodeficiency diseases (PIDDs). This project, also known as the Houston Project, is headed by Baylor's Dr. James R. Lupski and Dr. Jordan S. Orange. The results of this study appear in the Journal of Allergy and Clinical Immunology.

Researchers develop novel system for cataloging cancer gene variants

A multi-institutional group of researchers have developed a standard way to catalog gene mutations in cancers in order to enhance the use of the information in research and clinical practice. A paper published online in Genome Medicine describes the cataloging system.

Baylor welcomes new McNair Scholar, Dr. Bing Zhang

Dr. Bing Zhang has been named the newest McNair Scholar at Baylor College of Medicine. Zhang joins Baylor as a professor in molecular and human genetics and the Lester and Sue Smith Breast Center within the NCI-designated Dan L Duncan Comprehensive Cancer Center. Welcome Dr. Zhang!

Genetics in the News: October 2016

Sequencing the white-tailed deer genome

Uncovering the genes that regulate antler growth could lead to bone regeneration therapies for many types of bone disease. An article about the partnership between medical researchers and wildlife biologists that led to the sequencing of the white-tailed deer genome is featured in the October issue of TMC Pulse

Research provides new understanding of Parkinson’s and Alzheimer’s disease and opens path to treatment

A team of scientists at Baylor College of Medicine and Texas Children’s Hospital has found that in three separate laboratory models, the protein TRIM28 can promote the accumulation of two key proteins that drive the development of Parkinson’s, Alzheimer’s and related diseases. Dr. Maxime Rousseaux, postdoctoral associate in the Zoghbi lab, is the first author of the study that appears in eLife.

Dr. Brendan Lee to debut virtual integrative genetic services platform at ASHG conference

Dr. Brendan Lee will debut Consultagene, a new, innovative virtual platform for genetics services, at this year’s American Society of Human Genetics conference in Vancouver Oct. 18-22.

$27.9 million from NIH to support Baylor’s Knockout Mouse Project

NIH grant renewal supports Knockout Mouse Project that generates modified mice and establishes primary phenotype analysis as a resource for researchers world-wide. 

Study reveals potential new strategy to prevent Alzheimer’s disease

According to a new study published in Neuron, scientists in the Zoghbi and Botas labs have found that reducing early events in the brain, such as the accumulation of toxic molecules, might someday help prevent or delay Alzheimer’s disease.

Dr. Meng Wang awarded Pioneer Award from National Institutes of Health

Dr. Meng Wang has been awarded the National Institutes of Health Pioneer Award. The NIH Pioneer Award will support Dr. Wang’s work in identifying new strategies to improve human health and longevity. Congratulations Dr. Wang!

Genetics in the News: September 2016

Elefteriou recognized by American Society for Bone and Mineral Research

Dr. Florent Elefteriou has been awarded the 2016 Fuller Albright Award from the American Society for Bone and Mineral Research. The award recognizes scientific accomplishment in the bone and mineral field by a member of the society under age 45.

Research opens the possibility of new, noninvasive genetic prenatal testing

In a study that appears in Prenatal Diagnosis, researchers at Baylor College of Medicine, Drexel University College of Medicine, Texas Children’s Hospital and RareCyte, Inc. have determined that it is possible to develop a prenatal, noninvasive genetic test based on rare fetal cells that are present in the mother’s blood.

Dr. Meng Wang awarded Faculty Scholar grant from Howard Hughes Medical Institute

Dr. Meng Wang has been named a Howard Hughes Medical Institute Faculty Scholar, a grant awarded to outstanding young scientists and researchers who have made impressive accomplishments and have a bright future in making groundbreaking contributions. Congratulations Dr. Wang!

Genetics in the News: August 2016

Alaimo chosen for ASHG Trainee Paper Spotlight

Joseph Alaimo, Ph.D. has been chosen by the American Society of Human Genetics as the ASHG Trainee Paper Spotlight, a feature that highlights outstanding papers written by trainee members.

Baylor and The Chinese University of Hong Kong assemble clinical genetics symposium

The world’s top geneticists will come together for the first-ever Joint Symposium in Clinical Genetics May 19 - 21, 2017. The symposium will be hosted at the Postgraduate Education Centre in the School of Public Health at the Prince of Wales Hospital in Hong Kong.

Unexplained developmental disorder linked to gene involved in essential cellular processes

First author, Dr. Mari Tokita, along with senior authors, Drs. Magdalena Walkiewicz and Christian Schaaf led a multidisciplinary international team of researchers from 10 institutions in the discovery of a link between a neurodevelopmental disorder for which there was no known cause and the gene, SON.   

Rett and MECP2 duplication syndrome mice have identical malfunction in neural circuits that can be corrected by DBS

In a paper published this week in Neuron from Dr. Huda Zoghbi’s laboratory reveals that identical abnormalities in neural circuits might underlie similar features in two distinct genetic syndromes, Rett syndrome and MECP2 duplication syndrome.

Center for Genome Architecture explores 3-D structure of DNA

In studies published last week in Cell Systems, Dr, Erez Lieberman Aiden and his team at Baylor introduced an open source tool that allows users to transform raw sequencing data into genome-wide maps of looping. 

Genetics in the News: July 2016

Introducing Baylor Genetics

Baylor Miraca Genetics Laboratories, a joint venture of Baylor College of Medicine and Miraca Holdings, Inc., has rebranded as Baylor Genetics.

Baylor researchers advance rat model to enhance understanding of Rett syndrome

Researchers at Baylor College of Medicine have developed a novel rat model to better understand what causes patients with RTT to lose these behavioral, cognitive and physical abilities.

Primate brain development can help explain human developmental disorders

Baylor scientists helped associate observed changes in gene expression during development with significant human disease characteristics.

Study identifies a new rare genetic syndrome associated with severe infections and lung disease in infants

An international team of researchers, including Dr. Sharon Plon, has identified a new rare genetic condition – a chromosome breakage syndrome associated with severe infections and lung disease in infants.

Scientists cut “Gordian knot” in the human genome

The Barr body is the inactive X chromosome present in females and it contains massive superloops. A multi-institutional team of scientists has determined the part of the DNA code responsible for these superloops and has shown that is possible to use this information to change the structure of the Barr body as a whole. 

Genetics in the News: June 2016

Molecular and Human Genetics Welcomes Dr. Chonghui Cheng

Dr. Chonghui Cheng has joined Baylor College of Medicine's Lester and Sue Smith Breast Center and the Department of Molecular and Human Genetics as an associate professor.

Negative feedback loops help maintain function of mutated proteins

In a report which appears in the journal, Physical Review Letters, Drs. Rhonald Lua and David Marciano of the Lichtarge Laboratory in collaboration with Dr. Christophe Herman use mathematics and gene regulation experiments to demonstrate a new role for negative regulatory feedback. 

Dr. Brendan Lee honored with American Society of Human Genetics Curt Stern Award

Dr. Brendan Lee has been awarded the American Society of Human Genetics 2016 Curt Stern Award, an honor given annually to a genetics and genomics researcher who has made significant scientific contributions in the last decade. Congratulations Dr. Lee!

Beaudet and Schaaf recipients of 2016 Master and Rising Star Clinician Awards

A select group of Baylor College of Medicine faculty members were recognized for excellence in patient care at the Master Clinician and Rising Star Clinician Awards ceremony on June 16. Dr. Arthur Beaudet received a Master Clinician Award and Dr. Christian Schaaf received a Rising Star Award. Congratulations Dr. Beaudet and Dr. Schaaf!

Baylor, the Chinese University of Hong Kong join to advance genetic research, training

Baylor College of Medicine and the Chinese University of Hong Kong have signed a memorandum of understanding to establish the Chinese University of Hong Kong-Baylor College of Medicine Joint Center for Medical Genetics in Hong Kong.

Zoghbi to receive the Shaw Prize in Life Science and Medicine for 2016

The Shaw Prize Foundation in Hong Kong awarded the 2016 Shaw Prize in Life Science and Medicine to Drs. Huda Y. Zoghbi and Adrian P. Bird for their discovery of the genes and the encoded protein associated with Rett Syndrome. Congratulations Dr. Zoghbi!