Molecular and Human Genetics News

Researchers have discovered that gene variants associated with risk of developing Alzheimer’s disease disturb the protective mechanism in ways that can lead to neurodegeneration.

New research published in the Proceedings of the National Academy of Sciences shows that examining genetic mutations in individuals with severe schizophrenia can improve the ability to detect disease-associated rare genetic variants.

BCM Researchers developed a drug-based genetic platform that enables scientists to track genetic manipulations in the laboratory fruit fly without having to screen thousands of individual flies.

Researchers from Baylor College of Medicine, the University of Oxford, the University of Wisconsin-Madison and Bayer AG, have identified a specific gene that increases risk of suffering from endometriosis.

Researchers at the Human Genome Sequencing Center at Baylor College of Medicine have validated a new type of genetic mutation that causes Xia-Gibbs Syndrome (XGS), a rare genetic disorder that results in severe developmental delay, sleep apnea, delayed speech and upper body weakness. Their findings are published in the journal Human Genetics and Genomics Advances.

Researchers at Baylor College of Medicine and collaborating institutions have discovered that a cellular phenomenon called cryptic transcription, which had been previously described and linked to aging in yeasts and worms, is elevated in aging mammalian stem cells.

A team led by researchers at Baylor College of Medicine found that a screening method known as untargeted metabolomics profiling can improve the diagnostic rate for inborn errors of metabolism, a group of rare genetic conditions, by about seven-fold when compared to the traditional metabolic screening approach.

A Undiagnosed Disease Network study has uncovered that spontaneous mutations in RNF2 (RING2) gene are the underlying cause of a novel neurological disorder. 

A joint study conducted by Baylor College of Medicine and the Chinese University of Hong Kong has discovered that the benefit of aspirin treatment in preventing preeclampsia is mediated through decelerating the metabolic clock of gestation.

A report on the approach that Dr. Oliver Lichtarge and his colleagues are using to identify missense variants in autism. 

Dr. Brendan Lee, Robert and Janice McNair Endowed Chair in Molecular and Human Genetics and professor and chair of the Department of Molecular and Human Genetics, has been named president-elect of the American Society of Human Genetics. His three-year term will begin Jan. 1, 2022. Lee previously served on the ASHG Board of Directors as secretary.

Dr. Susan Rosenberg, professor of molecular and human genetics and Ben F. Love Chair in Cancer Research, has been named to the executive committee of the new American Association of Cancer Research Cancer Evolution Working Group.

Dr. Hugo Bellen received the Barbara and Corbin J. Robertson, Jr. Presidential Award for Excellence in Education, Dr. Reid Sutton was recognized with a Master Clinician Faculty Award for Excellence in Patient Care and both Tanya Eble and Dr. Lindsay Burrage were recipients of Norton Rose Fullbright awards. 

Dr. Benjamin Arenkiel, associate professor of molecular and human genetics and neuroscience at Baylor College of Medicine, has been awarded the prestigious 2021 Edith and Peter O’Donnell Award in Medicine from the Academy of Medicine, Engineering and Science of Texas. 

Researchers at Baylor College of Medicine have been awarded a Chan Zuckerberg Initiative Pediatric Networks for the Human Cell Atlas grant to create an atlas of genes and proteins of the human eye across pediatric development.
 

The National Institutes of Health will award nearly $80 million to support the establishment of the Mendelian Genomics Research Consortium and the development of novel methods and approaches that help researchers identify the genetic causes of single-gene diseases. Baylor College of Medicine will be one of five clinical sites included in the consortium. 

Dr. Rui Chen, professor of molecular and human genetics at Baylor College of Medicine, has been awarded a Chan Zuckerberg Initiative (CZI) Seed Network grant to support diversity in the Human Cell Atlas project, an international effort to map all the cells in the human body. 

Baylor College of Medicine has received a five-year, $9.94 million grant from the National Institutes of Health for the new Center for Precision Medicine Models to facilitate the study of rare genetic diseases. The center will use precision animal models of a patient’s or group of patients’ specific genetic variation and study why the change causes disease and how the disease can be treated.