Lifeboat Foundation

Our knowledge of the role of genetics in epilepsy is rapidly expanding, and this is enhancing epilepsy diagnosis, prognosis, and treatment. Julie Ziobro, MD, PhD is a pediatric epileptologist and research scientist at C.S. Mott Children’s Hospital. She and genetic counselor, Mallory Wagner, MS, LCGC, discuss some basic principles of genetics, currently available genetic tests, examples of genetic epilepsies, and how genetic test results can impact treatment decisions and prognosis. They also explore the role of genetics in developing precision therapies for epilepsy.

Experts from Michigan Medicine answer questions about brain health and how to prevent Alzheimer’s disease.

Learn more about the Michigan Alzheimer’s Disease Center at University of Michigan Health: https://alzheimers.med.umich.edu/

Continue reading “What You Can Do Now to Prevent Alzheimer’s Disease” »

Lung cancer is not the most common form of cancer, but it is by far among the deadliest. Despite treatments such as surgery, radiation therapy, and chemotherapy, only about a quarter of all people with the disease will live more than five years after diagnosis, and lung cancer kills more than 1.8 million people worldwide each year, according to the World Health Organization.

To improve the odds for patients with lung cancer, researchers from The University of Texas at Arlington and UT Southwestern Medical Center have pioneered a novel approach to deliver cancer-killing drugs directly into cancer cells.

“Our method uses the patient’s own cellular material as a trojan horse to transport a targeted drug payload directly to the lung cancer cells,” said Kytai T. Nguyen, lead author of a new study on the technique in the journal Bioactive Materials and the Alfred R. and Janet H. Potvin Distinguished Professor in Bioengineering at UTA.

Certain gut bacteria reside in colorectal tumors, but the species differ depending on a patient’s age, offering hope that our gut tenants could serve as early warning signs of cancer in young people.

Musk said that the first human patient implanted with a Neuralink chip last month “is able to… move the mouse around the screen just by thinking.”

Nucleases present a formidable barrier to the application of nucleic acids in biology, significantly reducing the lifetime of nucleic acid-based drugs. Here, we develop a novel methodology to protect DNA and RNA from nucleases by reconfiguring their supramolecular structure through the addition of a nucleobase mimic, cyanuric acid. In the presence of cyanuric acid, polyadenine strands assemble into triple helical fibers known as the polyA/CA motif. We report that this motif is exceptionally resistant to nucleases, with the constituent strands surviving for up to 1 month in the presence of serum. The conferred stability extends to adjacent non-polyA sequences, albeit with diminishing returns relative to their polyA sections due to hypothesized steric clashes. We introduce a strategy to regenerate stability through the introduction of free polyA strands or positively charged amino side chains, enhancing the stability of sequences of varied lengths. The proposed protection mechanism involves enzyme failure to recognize the unnatural polyA/CA motif, coupled with the motif’s propensity to form long, bundling supramolecular fibers. The methodology provides a fundamentally new mechanism to protect nucleic acids from degradation using a supramolecular approach and increases lifetime in serum to days, weeks, or months.

Recently approved gene therapies offer patients one-time, potentially curative treatments for genetic diseases such as sickle cell anemia and beta thalassemia. But “one-time” miracle solutions can often be multi-month affairs, require millions of dollars, and cause painful side effects. What if that doesn’t have to be the case?

In utero gene editing, or prenatal somatic cell genome editing, envisions treating a fetus diagnosed with a genetic disease before birth, thereby preventing that entire protocol and the onset of symptoms in the first place. It would also challenge the need for the ethically fraught enterprise of embryo editing, as the treatment would only make edits in the DNA of the individual fetus — edits which would not be passed on in a heritable way.

Watch this video to learn more about in utero gene editing, how it works, and why scientists believe it might be an advantageous approach to treating certain genetic diseases.

Gene editing technology could revolutionize the treatment of genetic diseases, including those that affect the mitochondria—cell structures that generate the energy required for the proper functioning of living cells in all individuals. Abnormalities in the mitochondrial DNA (mtDNA) could lead to mitochondrial genetic diseases.

Targeted base editing of mammalian mtDNA is a powerful technology for modeling mitochondrial genetic diseases and developing potential therapies. Programmable deaminases, which consist of a custom DNA-binding protein and a nucleobase deaminase, enable precise mtDNA editing.

There are two types of programmable deaminases for genome editing: cytosine base editors and adenine base editors, such as DddA-derived cytosine base editors (DdCBEs) and transcription activator-like effector (TALE)-linked deaminases (TALEDs). These editors bind to specific DNA sites in the mitochondrial genome and convert bases, resulting in targeted cytosine-to-thymine (C-to-T) or adenine-to-guanine (A-to-G) conversions during DNA replication or repair. However, the current gene editing approaches have many limitations, including thousands of off-target A-to-G edits while using TALEDs.

For more information on the Somatic Cell Genome Editing program, visit our website at: https://commonfund.nih.gov/editing Follow this link to for a version of the video that does not include audio descriptions: • NIH Common Fund Somatic Cell Genome E… Thousands of human diseases are caused by changes, or mutations, to the body’s DNA. What if we could treat all these diseases by diving into our living cells to correct the mistakes? The Somatic Cell Genome Editing program aims to make that happen. Recently, researchers have made great progress in correcting DNA mutations using a technique called genome editing, and the first tests of genome editing for human diseases are starting. However, there are still some challenges to achieve safe and effective genome editing in patient cells. The Somatic Cell Genome Editing, or SCGE, program was launched by the NIH Common Fund to develop quality tools to perform safe and effective genome editing in human patients. The SCGE program will make more genome editing tools available to researchers to develop better packages to deliver the tools to the right cells, design new tests for the safety and efficacy of genome editing, and make all of the information available to the scientific community to drive future discoveries and cures for patients.