Genetics & Genomics Graduate Program

“Genomics of Rare Diseases” offers readers a broad understanding of current knowledge on rare diseases from a genomics perspective.

In the last 10 years, scientists generated thousands of whole genome bisulfite sequencing (WGBS) data sets costing millions of dollars, yet were unable to appreciate much of the information available in the data. WGBS is a next-generation sequencing technology, the current gold-standard approach to determine DNA methylation of each cytosine, one of the DNA building blocks, in the entire genome. Existing analytical approaches can not distinguish methylation signals arising from different cell types. Baylor researchers developed a software that identifies cell type-specific methylation patters.

Researchers with an interest in unraveling gene regulation in human health and disease are expanding their horizons by closely looking at alternative polyadenylation (APA), an under-charted mechanism that regulates gene expression. The interest in APA has resulted in the development of several 3′ sequencing (3′Seq) techniques that allow for precise identification on APA sites on RNA strands. But what researchers are missing is a robust computational tool that is specifically designed to analyze the wealth of 3′Seq data that has been generated. Baylor researchers developed a tool for this they call PolyA-miner.

Is it possible to change the body’s fat storage without changing eating habits? Working with the laboratory worm C. elegans, researchers conducted a broad screen to investigate whether neurons can actively send signals that, without affecting feeding habits, could alter lipid metabolism. Graduate students, Marzia Savini created the illustration shown here for the article.

When a patient with puzzling neurological symptoms enrolled in the Undiagnosed Diseases Network, researchers were set on solving the mystery. The patient presented with an unidentified late-onset neurodegenerative disorder. The team named this new syndrome “Mitchell disease” in reference to the first patient to be diagnosed with this disorder and looked to identify its genetic basis. 

You can’t escape your genetics, but with a little help, you can be proactive and intervene. That is why researchers at Baylor College of Medicine’s Human Genome Sequencing Center are working with Baylor cardiologists to determine patients’ genetic risk factors for cardiovascular disease, the leading cause of death for men and women in the United States. As part of the HeartCare study, participants will undergo genetic testing to identify genes that influence risk for cardiovascular disease and related conditions.

A protein naturally produced in the body has been found to suppress breast cancer metastasis in animal models of human tumors. In this study, the same team at BCM that published a pioneering study that brought alternative splicing to the field of cancer research, investigated how alternative splicing contributes to cancer metastasis by looking for proteins that regulate alternative splicing events linked to metastasis.

Severe acute childhood malnutrition presents in two clinically distinct forms: edematous severe acute malnutrition (ESAM) and non-edematous SAM (NESAM). Children with ESAM tend to show body swelling and extensive dysfunction of multiple organs, including liver, blood cells and the gut, as well as skin and hair abnormalities. NESAM, on the other hand, typically presents with weight loss and wasting. BCM researchers and colleagues looked at these conditions from a molecular perspective. Specifically, they investigated whether DNA methylation differed between ESAM and NESAM. Their findings suggest novel opportunities for improving these conditions in the future.

There is currently a debate about whether herpes virus infections play a role in Alzheimer’s disease and BCM researchers are actively contributing to the discussion. They looked into the proposed link between herpes virus infections and Alzheimer’s disease and found unexpected results.

Having a better understanding of how adult bones heal could reveal new ways of repair fractures faster and help find novel treatments for osteoporosis.  Dr. Dongsu Park, assistant professor of molecular and human genetics and an alum of the BCM Graduate School of Biomedical Sciences and his colleagues investigate adult bone healing and recently uncovered a new mechanism that has potential therapeutic applications.

Students are critical members of research teams and often the first authors on the newsworthy publications from faculty laboratories. View student research news.

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