Lifeboat Foundation

Gene therapy may be the best hope for curing retinitis pigmentosa (RP), an inherited condition that usually leads to severe vision loss and blinds 1.5 million people worldwide.

But there’s a huge obstacle: RP can be caused by mutations in over 80 different genes. To treat most RP patients with gene therapy, researchers would have to create a therapy for each gene—a nearly impractical task using current gene therapy strategies.

A more universal treatment may be forthcoming. Using CRISPR-based genome engineering, scientists at Columbia University Vagelos College of Physicians and Surgeons are designing a gene therapy with the potential to treat RP patients regardless of the underlying genetic defect.

Certain RNA molecules in the nerve cells in the brain last a life time without being renewed. Neuroscientists from Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU) have now demonstrated that this is the case together with researchers from Germany, Austria and the USA. RNAs are generally short-lived molecules that are constantly reconstructed to adjust to environmental conditions. With their findings that have now been published in the journal Science, the research group hopes to decipher the complex aging process of the brain and gain a better understanding of related degenerative diseases.

Most cells in the human body are regularly renewed, thereby retaining their vitality. However, there are exceptions: the heart, the pancreas and the brain consist of cells that do not renew throughout the whole lifespan, and yet still have to remain in full working order. “Aging neurons are an important risk factor for neurodegenerative illnesses such as Alzheimer’s,” says Prof. Dr. Tomohisa Toda, Professor of Neural Epigenomics at FAU and at the Max Planck Center for Physics and Medicine in Erlangen. “A basic understanding of the aging process and which key components are involved in maintaining cell function is crucial for effective treatment concepts:”

In a joint study conducted together with neuroscientists from Dresden, La Jolla (USA) and Klosterneuburg (Austria), the working group led by Toda has now identified a key component of brain aging: the researchers were able to demonstrate for the first time that certain types of ribonucleic acid (RNA) that protect genetic material exist just as long as the neurons themselves. “This is surprising, as unlike DNA, which as a rule never changes, most RNA molecules are extremely short-lived and are constantly being exchanged,” Toda explains.

Study links dopamine to learning via optogenetics:

A new study reveals dopamine’s role in animal behavior having potential applications in education and artificial intelligence.

You’ve probably heard about the gene-editing technology CRISPR. The massive biotech breakthrough, which has emerged in the last decade, has mainly been touted for the ways it will let scientists edit the human genome — hopefully to cure genetic diseases or perhaps, more worryingly, to create “designer babies.” But CRISPR is also being used in another area, the world of food.

Cultural anthropologist Dr. Lauren Crossland-Marr hosts the five-episode podcast A CRISPR Bite. She takes listeners into labs as researchers tinker with the genes in what we eat and drink. What, exactly, are they trying to achieve? And what’s at stake?

Using this natural process as a basis, scientists developed a gene-editing tool called CRISPR/Cas that can cut a specific DNA sequence by simply providing it with an RNA template of the target sequence. This allows scientists to add, delete, or replace elements within the target DNA sequence. Slicing a specific part of a gene’s DNA sequence with the help of the Cas9 enzyme, aids in DNA repair.

This system represented a big leap from previous gene-editing technologies, which required designing and making a custom DNA-cutting enzyme for each target sequence rather than simply providing an RNA guide, which is much simpler to synthesize.

CRISPR gene editing has already changed the way scientists do research, allowing a wide range of applications across multiple fields. Here are some of the diseases that scientists aim to tackle using CRISPR/Cas technology, testing its possibilities and limits as a medical tool.

Recent research published in Nature Communications from the Nuffield Department of Clinical Neurosciences at the University of Oxford has identified 15 modifiable risk factors for dementia, and of those diabetes, alcohol intake, and traffic-related air pollution are the most harmful.

Previous research from this group revealed an area of weakness in the brain of a specific network of higher-order regions that only develop later in adolescence but also display earlier degeneration in old age, and they showed that this brain network is particularly vulnerable to Alzheimer’s disease and schizophrenia. This study investigated genetic and modifiable influences on these regions by utilizing data from the UK Biobank.

Continue reading “Risk Factors For Faster Brain Aging” »

Researchers believe they have discovered a new biological mechanism for obesity, pointing to rare variants on two genes that dramatically increase the risk of carrying excess weight.

The first patient to receive a kidney transplanted from a genetically modified pig has fared so well that he was discharged from the hospital on Wednesday, just two weeks after the groundbreaking surgery.

The transplant and its encouraging outcome represent a remarkable moment in medicine, scientists say, possibly heralding an era of cross-species organ transplantation.

Two previous organ transplants from genetically modified pigs failed. Both patients received hearts, and both died a few weeks later. In one patient, there were signs that the immune system had rejected the organ, a constant risk.

To engineer proteins with useful functions, researchers usually begin with a natural protein that has a desirable function, such as emitting fluorescent light, and put it through many rounds of random mutation that eventually generate an optimized version of the protein.

This process has yielded optimized versions of many important proteins, including green fluorescent protein (GFP). However, for other proteins, it has proven difficult to generate an optimized version. MIT researchers have now developed a computational approach that makes it easier to predict mutations that will lead to better proteins, based on a relatively small amount of data.

Using this model, the researchers generated proteins with mutations that were predicted to lead to improved versions of GFP and a protein from adeno-associated virus (AAV), which is used to deliver DNA for gene therapy. They hope it could also be used to develop additional tools for neuroscience research and medical applications.