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Two eggs fertilized by two sperm coincided in a uterus and, instead of giving rise to two sisters, they fused to form a single person: Karen Keegan. When she was 52 years old, this woman from Boston suffered very serious kidney failure, but luckily she had three children willing to donate a kidney to her. The doctors did genetic tests to see which offspring was most compatible and they got a major surprise: the test said that two of them were not her children. The reality was even more astonishing: Karen Keegan had two different DNA sequences, two genomes, depending on the cell you looked at. Biologist Alfonso Martínez Arias maintains that this chimeric woman is conclusive proof that DNA does not define a person’s identity.

The most inspiring science book of all time is The Selfish Gene, according to a survey carried out by the Royal Society of the United Kingdom. In this famous work from 1976, British biologist Richard Dawkins defended that the DNA molecule uses the human being as a mere envelope in order to be transmitted to the next generation and become immortal. “We are survival machines, robot vehicles blindly programmed to preserve the selfish molecules known as genes,” Dawkins stated. Almost half a century later, Martínez Arias refutes this perspective of the selfish gene and proposes a much more romantic alternative: the altruistic cell. “An organism is the work of cells. Genes merely provide materials for their work,” he says in The Master Builder, a fascinating and provocative book from the London publisher Basic Books that will also be published in Spanish this year.

Martínez Arias, 68, argues that the DNA sequence of an individual is not an instruction manual or a construction plan for their body, but a box of tools and materials for the true architect of life: the cell. The Madrid-born biologist argues that there is nothing in the DNA molecule that explains why the heart is located on the left, why there are five fingers on the hand or why twin brothers have different fingerprints. Cells are what “control time and space,” he proclaims. They are the ones who know where right and left are, and where exactly a person’s foot or an elephant’s trunk should end.

A study from the Hackett group at EMBL Rome led to the development of a powerful epigenetic editing technology, which unlocks the ability to precisely program chromatin modifications.

Understanding how genes are regulated at the molecular level is a central challenge in modern biology. This complex mechanism is mainly driven by the interaction between proteins called transcription factors, DNA regulatory regions, and epigenetic modifications – chemical alterations that change chromatin structure. The set of epigenetic modifications of a cell’s genome is referred to as the epigenome.

Advancements in Epigenome Editing.

A breakthrough study by the Institut Curie reveals that embryonic cell compaction in humans is caused by cell contraction, offering new insights to enhance assisted reproductive technology success rates.

In human development, the compaction of embryonic cells is a vital process in the early stages of an embryo’s formation. Four days post-fertilization, the cells tighten together, helping to form the embryo’s initial structure. If compaction is flawed, it can hinder the development of the essential structure needed for the embryo to attach to the uterus. During assisted reproductive technology (ART), this stage is meticulously observed before the embryo is implanted.

An interdisciplinary research team led by scientists at the Genetics and Developmental Biology Unit at the Institut Curie (CNRS/Inserm/Institut Curie) studying the mechanisms at play in this still little-known phenomenon has made a surprising discovery: human embryo compaction is driven by the contraction of embryonic cells. Compaction problems are therefore due to faulty contractility in these cells, and not a lack of adhesion between them, as was previously assumed. This mechanism had already been identified in flies, zebrafish, and mice, but is a first in humans.

Advances in DNA technology enable personalized approaches to healthcare, tailoring treatments and therapies based on an individual’s genetic makeup to improve efficacy and minimize side effects.

The results of a metagenomic study from the University of Trento suggest that the CRISPR toolbox will need to make room for another CRISPR enzyme. The disruption should be minimal because the newly identified enzyme is unusually compact. It consists of just over 1,000 amino acids. And yet it is also strongly active and highly precise. The hope is that it can be packaged with guide RNA within the tight quarters afforded by adeno-associated virus (AAV) vectors, and thereby expand the use of in vivo gene editing in therapeutic applications.

The study was led by Anna Cereseto, PhD, and Nicola Segata, PhD, of the department of cellular, computational, and integrative biology. Cereseto leads a laboratory that develops advanced genome editing technologies and their application in the medical sector. Segata is the head of a laboratory of metagenomics, where he studies the variety and characteristics of the human microbiome and its role in health. Their collaboration has led to the identification, in a bacterium of the intestine, of new CRISPR-Cas9 molecules that could have a clinical potential to treat genetic diseases.

Detailed findings from the study recently appeared in Nature Communications, in an article titled, “CoCas9 is a compact nuclease from the human microbiome for efficient and precise genome editing.”

Now that’s Wonderful. It’s touching by how they were brought to tears in making progress in fighting neurogenitive disease.

Auckland scientists are celebrating an important breakthrough after zeroing in on a rare genetic mutation causing motor neuron disease. Their work is now being published in the journal Brain, and national correspondent Amanda Gillies spoke to the lead researcher. ➡️ SUBSCRIBE: https://bit.ly/NewshubYouTube.

Continue reading “‘Whole room was in tears’: NZ scientists see major breakthrough for motor neurone disease | Newshub” »

Poirier M, Smith OE, Therrien J, et al. Resiliency of equid H19 imprint to somatic cell reprogramming by oocyte nuclear transfer and genetically induced pluripotency†. Biol Reprod. 2019;102:211–9.

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Teen girls born with a rare genetic disorder are functioning well years after successful organ implant surgeries.

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Scientists at Oregon Health & Science University and the Oregon National Primate Research Center (ONPRC) have successfully reprogrammed human skin cells to become embryonic stem cells capable of transforming into any other cell type in the body. It is believed that stem cell therapies hold the promise of replacing cells damaged through injury or illness. Diseases or conditions that might be treated through stem cell therapy include Parkinson’s disease, multiple sclerosis, cardiac disease and spinal cord injuries.

The research breakthrough, led by Shoukhrat Mitalipov, Ph.D., a senior scientist at ONPRC, follows previous success in transforming monkey skin cells into embryonic stem cells in 2007. This latest research will be published in the journal Cell online May 15 and in print June 6.

The technique used by Drs. Mitalipov, Paula Amato, M.D., and their colleagues in OHSU’s Division of Reproductive Endocrinology and Infertility, Department of Obstetrics & Gynecology, is a variation of a commonly used method called somatic cell nuclear transfer, or SCNT. It involves transplanting the nucleus of one cell, containing an individual’s DNA, into an egg cell that has had its genetic material removed. The unfertilized egg cell then develops and eventually produces stem cells.