Lifeboat Foundation

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.

Neurodevelopmental disorders (NDDs) are a group of disorders in which the development of the central nervous system (CNS) is disturbed, resulting in different neurological and neuropsychiatric features, such as impaired motor function, learning, language or non-verbal communication. Frequent comorbidities include epilepsy and movement disorders. Advances in DNA sequencing technologies revealed identifiable genetic causes in an increasingly large proportion of NDDs, highlighting the need of experimental approaches to investigate the defective genes and the molecular pathways implicated in abnormal brain development. However, targeted approaches to investigate specific molecular defects and their implications in human brain dysfunction are prevented by limited access to patient-derived brain tissues. In this context, advances of both stem cell technologies and genome editing strategies during the last decade led to the generation of three-dimensional (3D) in vitro-models of cerebral organoids, holding the potential to recapitulate precise stages of human brain development with the aim of personalized diagnostic and therapeutic approaches. Recent progresses allowed to generate 3D-structures of both neuronal and non-neuronal cell types and develop either whole-brain or region-specific cerebral organoids in order to investigate in vitro key brain developmental processes, such as neuronal cell morphogenesis, migration and connectivity. In this review, we summarized emerging methodological approaches in the field of brain organoid technologies and their application to dissect disease mechanisms underlying an array of pediatric brain developmental disorders, with a particular focus on autism spectrum disorders (ASDs) and epileptic encephalopathies.

Neurodevelopmental disorders (NDDs) encompass a range of frequently co-existing conditions that include intellectual disability (ID), developmental delay (DD), and autism spectrum disorders (ASDs) (Heyne et al., 2018; Salpietro et al., 2019). ASDs represent a complex set of behaviorally defined phenotypes, characterized by impairments in social interaction, communication and restricted or stereotyped behaviors (Chen et al., 2018). Epilepsy and NDDs frequently occur together, and when refractory seizures are accompanied by cognitive slowing or regression, patients are considered to have an epileptic encephalopathy (EE) (Scheffer et al., 2017). Both ID and ASDs are clinically and etiologically heterogeneous and a unifying pathophysiology has not yet been identified for either the disorder as a whole or its core behavioral components (Myers et al., 2020). Family and twin studies suggest high (0.65–0.91) heritability (Chen et al.

Researchers have created a gene-edited cow that produces human insulin in her milk in Brazil.

Liz Parrish, CEO of BioViva Science, is the world’s most genetically modified person. She took a telomere-restoring gene therapy in 2015 alongside follistatin, making her the first person to take gene therapy to treat biological aging.

But why telomeres?

While there are other ways to measure and address the aging process, lengthening telomeres is an especially promising avenue.

TOKYO — In 2018, Chinese researcher He Jiankui announced the birth of the world’s first genome-edited babies, and was subsequently imprisoned in China. In his first solo interview with Japanese media, he revealed to the Mainichi Shimbun that he has resumed research on human embryo genome editing for the treatment of genetic diseases while adhering to international rules, and claimed “society will eventually accept it.”

A team of medical researchers at Zhejiang University, in China, has developed a way to use cryo-shocked tumor cells to fight lung cancer. In their study, published in the journal Science Advances, the group used fast liquid nitrogen treatment to modify tumor cells to carry gene-editing tools to fight tumors in mouse models.

Two progressively degenerative diseases, amyotrophic lateral sclerosis (ALS, commonly known as Lou Gehrig’s disease) and frontotemporal dementia (FTD, recently in the news with the diagnoses of actor Bruce Willis and talk show host Wendy Williams), are linked by more than the fact that they both damage nerve cells critical to normal functioning—the former affecting nerves in the brain and spinal cord leading to loss of movement, the latter eroding the brain regions controlling personality, behavior and language.

Research studies have repeatedly shown that in patients with ALS or FTD, the function of TAR DNA-binding protein 43, more commonly called TDP-43, becomes corrupted. When this happens, pieces of the genetic material called ribonucleic acid (RNA) can no longer be properly spliced together to form the coded instructions needed to direct the manufacture of other proteins required for healthy nerve growth and function.

The RNA strands become riddled with erroneous code sequences called “cryptic exons” that instead affect proteins believed to be associated with increased risk for ALS and FTD development.

Salk scientists unveil RNA capabilities that enable Darwinian evolution at a molecular scale, and bring researchers closer to producing autonomous RNA life in the laboratory.

Charles Darwin described evolution as “descent with modification.” Genetic information in the form of DNA sequences is copied and passed down from one generation to the next. But this process must also be somewhat flexible, allowing slight variations of genes to arise over time and introduce new traits into the population.

Continue reading “Unlocking the Secrets of Life With RNA’s Ancient Code” »