This resource is a video abstract of a research paper created by Research Square on behalf of its authors. It provides a synopsis that's easy to understand, and can be used to introduce the topics it covers to students, researchers, and the general public. The video's transcript is also provided in full, with a portion provided below for preview:

"Gene regulation plays a critical role in human development and disease, including cancer. Genes are regulated by a family of proteins called transcription factors. One such molecule is GLI3, a member of the "Hedgehog" signaling pathway. GLI3 can switch genes ON (such as in development and cancer) and switches gene expression OFF in Hedgehog signaling. This central molecule is important for tissue development in the brain and lungs and for the development and activation of immune cells such as B, T and NK cells. GLI3 is upregulated in many cancers, promoting growth, angiogenesis, and tumor cell proliferation and migration, but interestingly, in certain cancers, GLI3 has an anti-tumor role. and its pro-cancerous role can be modulated by GLI3-targeting microRNA. Understanding GLI3-mediated signaling will clarify its roles in disease, development, and cancer, laying the foundation to target this critical molecule in immune and cancer therapies..."

The rest of the transcript, along with a link to the research itself, is available on the resource itself.

Students will use effective research skills to find and select appropriate information to create a "poster" to inform others about a genetic disorder.  They will use their research to create a single PowerPoint slide to be used as a poster or fact sheet that presents information about the genetic disorder they select.  The slide will be graded on the information presented, neatness, and legibility.  Students will then share their research in a Gallery Walk to learn about the genetic disorders researched by their classmates.  As they read/listen to the information presented for each project, they will take notes and provide comments.

This course reviews the key genomic technologies and computational approaches that are driving advances in prognostics, diagnostics, and treatment. Throughout the semester, emphasis will return to issues surrounding the context of genomics in medicine including: what does a physician need to know? what sorts of questions will s/he likely encounter from patients? how should s/he respond? Lecturers will guide the student through real world patient-doctor interactions. Outcome considerations and socioeconomic implications of personalized medicine are also discussed. The first part of the course introduces key basic concepts of molecular biology, computational biology, and genomics. Continuing in the informatics applications portion of the course, lecturers begin each lecture block with a scenario, in order to set the stage and engage the student by showing: why is this important to know? how will the information presented be brought to bear on medical practice? The final section presents the ethical, legal, and social issues surrounding genomic medicine. A vision of how genomic medicine relates to preventative care and public health is presented in a discussion forum with the students where the following questions are explored: what is your level of preparedness now? what challenges must be met by the healthcare industry to get to where it needs to be?

Lecturers
Dr. Atul J. Butte
Dr. Steven A. Greenberg
Dr. Alvin Thong-Juak Kho
Dr. Peter Park
Dr. Marco F. Ramoni
Dr. Alberto A. Riva
Dr. Zoltan Szallasi
Dr. Jeffrey Mark Drazen
Dr. Todd Golub
Dr. Joel Hirschhorn
Dr. Greg Tucker-Kellogg
Dr. Scott Weiss

This resource is a video abstract of a research paper created by Research Square on behalf of its authors. It provides a synopsis that's easy to understand, and can be used to introduce the topics it covers to students, researchers, and the general public. The video's transcript is also provided in full, with a portion provided below for preview:

"In Wolfram syndrome (WFS), intracellular endoplasmic reticulum stress and reduced levels of the protein wolframin lead to diabetes and neurodegeneration. In addition, deficiency of the wolframin-encoding gene, WFS1, is known to disrupt calcium balance and change mitochondrial dynamics. Unfortunately, there is no effective treatment for WFS, but better characterization of its mechanisms might aid in therapy development. To further investigate WFS, a recent study analyzed the mRNA transcript and protein profiles in a human cell WFS model. The levels of proteins in various signaling pathways differed between the WFS cells and normal control cells. For example, proteins involved in oxidative phosphorylation, the major energy-producing pathway in mitochondria, were downregulated in the WFS cells. while proteins in other energy generation pathways were upregulated..."

The rest of the transcript, along with a link to the research itself, is available on the resource itself.

This resource is a video abstract of a research paper created by Research Square on behalf of its authors. It provides a synopsis that's easy to understand, and can be used to introduce the topics it covers to students, researchers, and the general public. The video's transcript is also provided in full, with a portion provided below for preview:

"St. Louis University researchers have discovered some of the molecular processes that lead to decline in patients with progeria. Their work also helps explain why certain drugs seemingly rejuvenate progeria cells, which could hint at more potent therapies against progeria. Hutchinson–Gilford progeria syndrome is a rare genetic disease that causes premature aging. Rapid aging of different tissues causes death by teenage years, normally due to cardiovascular complications. Currently, therapies for this devastating disease provide patients minimal benefit. The origin of progeria is a mutation in the lamin A gene—responsible for fabricating structural proteins that help keep the cell nucleus sturdy and the genome intact. The mutated lamin A protein “progerin” destabilizes the cell nucleus, causes DNA damage, and ultimately leads to the aging effects found in patients with progeria. Now, the researchers have delved deeper to understand how progerin wreaks damage at the molecular level..."

The rest of the transcript, along with a link to the research itself, is available on the resource itself.

This resource is a video abstract of a research paper created by Research Square on behalf of its authors. It provides a synopsis that's easy to understand, and can be used to introduce the topics it covers to students, researchers, and the general public. The video's transcript is also provided in full, with a portion provided below for preview:

"RNA base editing has great potential for use in research for cell functions and genetic disease. Unlike DNA editing, which can cause unwanted mutations in other parts of the genome, RNA editing may allow researchers to mimic genetic variants that provide a health advantage. Two main RNA base editors have been used in vitro: REPAIR, which mediates A-to-I editing, and RESCUE, which can perform both C-to-U and A-to-I editing. Unfortunately, although RESCUE is more versatile, its low editing efficiency limits its applications. Now, researchers have developed an enhanced RESCUE (eRESCUE) system. eRESCUE was generated by fusing inactivated PspCas13b with ADAR2. In tests using human cell lines, eRESCUE mediated more efficient A-to -I and C-to-U RNA editing than the original RESCUE editor. eRESCUE editing of IKKβ successfully converted 177Ser to Gly, resulting in decreased phosphorylation and downregulation of downstream IKKβ-related genes..."

The rest of the transcript, along with a link to the research itself, is available on the resource itself.