検索キーワード： 遺伝学

A tiny mutation on the X chromosome can shape a family’s history. Passed down from a “carrier” parent to a child, fragile X syndrome is the most common inherited cause of intellectual disability and autism. Beyond that—and a rarity among genetic disorders—some fragile X carriers not only transmit the mutation, but also experience related conditions themselves.

Die CRISPR-Methode und die Zukunft der Medizin. Was macht die Natur, wenn ein neuer Feind auftaucht? Sie findet eine neue Strategie. Wenn eine Bakterie von einem Virus attackiert wird, verteidigt sie sich beispielsweise, indem sie ihre genetische Struktur ändert. Doch wie können diese Mechanismen nachgewiesen werden? Und welchen Nutzen hat dieses Wissen für die Medizin? Der Amerikanerin Jennifer Doudna und der Französin Emmanuelle Charpentier sind bahnbrechende Erkenntnisse im Bereich der Biochemie gelungen.

An almost limitless archive of our history lies hidden inside our bodies, and this book traces the ancient story of Scotland from that scientific viewpoint. The mushrooming of genetic studies, of DNA analysis, is rewriting history in spectacular fashion. In Scotland: A Genetic Journey, Alistair Moffat explores the history that is printed on our genes, and in a remarkable new approach, uncovers the detail of where Scots are from, where they have journeyed, and who they are - and in so doing, vividly colors in a DNA map of Scotland.

The field of biotechnology has evolved over the past four decades, developing medicines which are curing diseases. But this journey of success has been tough and arduous, built upon the shoulders of major failures.

Une extraordinaire histoire collective dont nous sommes tous les héritiers ! Les gènes sont une fascinante machine à remonter le temps depuis que nous savons faire "parler" non seulement l'ADN des Sapiens actuels, mais aussi celui de nos lointains ancêtres. Évelyne Heyer, biologiste française, professeure en génétique des populations, dévoile un récit de l'aventure humaine dans un style clair et accessible.

In 2018, the first genetically modified babies were reportedly born in China, made possible by the invention of CRISPR technology in 2012. This controversial advancement overturned the preexisting moral consensus, which had held for over 50 years before: While gene editing an adult person was morally acceptable, modifying babies, and thus subsequent generations, crossed a significant moral line. John H. Evans here provides a meta-level guide to how these debates move forward and their significance to society.

Resistance to malaria. Blue eyes. Lactose tolerance. What do all of these traits have in common? Every one of them has emerged in the last 10,000 years.

Since 2010, it has been possible to determine a person's genetic makeup in a matter of days at an accessible cost for many millions of people. Along with this technological breakthrough there has emerged a movement to use this information to help prospective parents "eliminate preventable genetic disease". As the prospect of systematically excluding the appearance of unwanted mutations in our children comes within reach, David B. Goldstein examines the possible consequences from these types of choices.

Una piccola sigla, un mondo di significati: il DNA è una risorsa contro le malattie, uno strumento per identificare gli assassini e una chiave per comprendere il comportamento umano. La sua storia è talmente antica da intrecciarsi con quella della comparsa della vita sulla Terra. E in futuro? Proviamo a parlarne direttamente con lui. Dalla genetica di Neandertal alla clonazione di esseri umani, metteremo a fuoco speranze (e timori) che grazie al DNA si aprono per la scienza e per le nostre esistenze.

"Egoístas, inmortales y viajeras" explora el pasado, la realidad actual y el futuro de una enfermedad que, en términos estrictos, no es una única entidad sino más de doscientas distintas, tantas como tipos celulares construyen los diferentes órganos y tejidos de nuestro cuerpo. Discutiremos en primer lugar el origen del cáncer, una cuestión que hasta una fecha reciente no tuvo una respuesta concreta y de la que hoy podemos decir que es una enfermedad de los genes en el planeta de los genes.

Synthetic biology promises to reveal how life is created and how it can be re-created, enabling scientists to rewrite the rules of our reality. It could help us, for example, heal without prescription medications, grow meat without harvesting animals, or confront our looming climate catastrophe. Synthetic biology will determine the ways in which we conceive future generations and how we define family, how we identify disease and treat aging, where we make our homes, and how we nourish ourselves.

The emergence of genomic science in the last quarter century has revolutionized medicine, the justice system, and our understanding of who we are. We use genomics to determine guilt and exonerate the falsely convicted; devise new medicines; test embryos; and discover our ethnic and national roots. One might think that, given these advances, most would favor the availability of genomic tools. Yet as Jennifer Hochschild explains in Genomic Politics, the uses of genomic science are both politically charged and hotly contested.

While in the world of literature and film, mad scientists create monsters like "Frankenstein” and almost all religions are promoting skepticism towards science and the fear of manipulating human beings, reality has bypassed such concerns long ago. Osho has a unique view – supporting science, specifically genetic science – but as a conscious science.

Origin is the story of who the first peoples in the Americas were, how and why they made the crossing, how they dispersed south, and how they lived based on a new and powerful kind of evidence: their complete genomes. Origin provides an overview of these new histories throughout North and South America, and a glimpse into how the tools of genetics reveal details about human history and evolution.

Was ist Leben? Und was bedeutet die Antwort auf diese Frage für die Herausforderungen, denen sich die Menschheit heute gegenübersieht - Klimawandel, Pandemien und Artensterben? Paul Nurse erhielt den Nobelpreis dafür, gezeigt zu haben, wie lebende Zellen funktionieren. In seinem so klar wie elegant verfassten Buch synthetisiert er auf wenigen Seiten sämtliches Wissen darüber, was es heißt, am Leben zu sein. Schritt für Schritt erläutert Nurse die fünf revolutionären Ideen, die der Biologie zugrunde liegen - die Zelle, das Gen, Evolution durch natürliche Selektion, das Leben als Chemie und das Leben als Information.

Throughout history, people have sought to reduce suffering, eliminate disease and enhance desirable qualities in their children. In the Victorian era eugenics, a full-blooded attempt to impose control over unruly biology, began to grow among the powerful and quickly spread to dozens of countries around the world. But these ideas are not merely historical: today, with new gene editing techniques, conversations are happening about tinkering with the DNA of our unborn children to make them smarter, fitter, stronger.

Ancestor Trouble is one writer’s attempt to use genealogy - a once-niche hobby that has grown into a multi-billion-dollar industry - to expose the secrets and contradictions of her own ancestors, and to argue for the transformational possibilities that reckoning with our ancestors offers all of us.

Today, with relatively easy access to our DNA ancestry, we have more data about ourselves and family history than previous generations could have imagined. In the 12 fascinating lessons of Identity in the Age of Ancestral DNA, Anita Foeman, PhD, professor of communication and media, and founder and primary investigator of the DNA Discussion Project at West Chester University, takes us behind the scenes to examine what really happens when individuals receive their personal DNA ancestry results.

The discovery of DNA’s structure is the story of five towering minds in pursuit of the advancement of science, and for almost all of them, the prospect of fame and immortality: Watson, Crick, Rosalind Franklin, Maurice Wilkins, and Linus Pauling. Howard Markel skillfully recreates the intense intellectual journey, and fraught personal relationships, that ultimately led to a spectacular breakthrough. But it is Rosalind Franklin - fiercely determined, relentless, and an outsider at Cambridge and the University of London in the 1950s - who becomes a focal point for Markel.

From the author of Seed of Israel: DNA Guide to Tracing Your Jewish Ancestry comes this great dive into the history of Ashkenazi Jews. While controversial debates spark disagreements on the crystallization of this Jewish Diaspora, modern genetic studies and personal DNA samples finally conclude the Levantine Middle Eastern and Mediterranean roots of Ashkenazi ancestry: Judean people from the Holy Land that journeyed across the Mediterranean to the bottleneck of Europe.