Genetics

Recent Discoveries

Salk Institute for Biological Studies - Genetics - Recent Discoveries

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New maps of chemical marks on DNA pinpoint regions relevant to many developmental diseases

LA JOLLA—In research that aims to illuminate the causes of human developmental disorders, Salk scientists have generated 168 new maps of chemical marks on strands of DNA—called methylation—in developing mice.


Salk scientists discover genetic “dial” to turn immune function up and down to target cancer, autoimmune disease

LA JOLLA—The human immune system is a finely-tuned machine, balancing when to release a cellular army to deal with pathogens, with when to rein in that army, stopping an onslaught from attacking the body itself. Now, Salk researchers have discovered a way to control regulatory T cells, immune cells that act as a cease-fire signal, telling the immune system when to stand down.


Giant leap in diagnosing liver disease

LA JOLLA—Chronic liver disease represents a major global public health problem affecting an estimated 844 million people, according to the World Health Organization. It is among the top causes of mortality in Australia, the UK and the United States. At the same time, it is both difficult to manage and there is no FDA-approved anti-fibrotic liver therapy. The microbiome—a complex collection of microbes that inhabit the gut—may be an unexpected indictor of health. Now, a collaborative team of Salk Institute and UC San Diego scientists have created a novel microbiome-based diagnostic tool that, with the accuracy of the best physicians, quickly and inexpensively identifies liver fibrosis and cirrhosis over 90 percent of the time in human patients.


Location, location, location: the cell membrane facilitates RAS protein interactions

LA JOLLA—Many cancer medications fail to effectively target the most commonly mutated cancer genes in humans, called RAS. Now, Salk Professor Geoffrey Wahl and a team of scientists have uncovered details of how normal RAS interacts with mutated RAS and other proteins in living cells for the first time. The findings, published in The Proceedings of the National Academy of Sciences on May 18, 2020, could aid in the development of better RAS-targeted cancer therapeutics.


Finding the smallest genes could yield outsized benefits

LA JOLLA—While scientists know of about 25,000 genes that code for biologically important proteins, additional, smaller genes hiding in our DNA may be just as important. But these tiny lines of genetic code have proven tough to track down.


Stem cell study offers new way to study early development and pregnancy

LA JOLLA—Although graduating from school, a first job and marriage can be important events in life, some of the most significant events happen far earlier: in the first few days after a sperm fertilizes an egg and the cell begins to divide.


Mapping normal breast development to better understand cancer

LA JOLLA—Breast cancer is one of the most prevalent cancers, and some forms rank among the most difficult to treat. Its various types and involvement of many different cells makes targeting such tumors difficult. Now, Salk Institute researchers have used a state-of-the-art technology to profile each cell during normal breast development in order to understand what goes wrong in cancer.


Salk scientists find way to quantify how well cutting-edge microscopy technique works

LA JOLLA—In 2017, Salk scientists reported that tilting a frozen protein sample as it sat under an electron microscope was an effective approach to acquiring better information about its structure and helping researchers understand a host of diseases ranging from HIV to cancer. Now, they have developed a mathematical framework that underlies some of those initial observations.


Salk scientists develop technique to reveal epigenetic features of cells in the brain

LA JOLLA—The brain’s prefrontal cortex, which gives us our ability to solve problems and plan ahead, contains billions of cells. But understanding the large diversity of cell types in this critical region, each with unique genetic and molecular properties, has been challenging.


A novel technology for genome-editing a broad range of mutations in live organisms

LA JOLLA—The ability to edit genes in living organisms offers the opportunity to treat a plethora of inherited diseases. However, many types of gene-editing tools are unable to target critical areas of DNA, and creating such a technology has been difficult as living tissue contains diverse types of cells.


New computational tool lets researchers identify cells based on their chromosome shape

LA JOLLA—In the nucleus of every living cell, long strands of DNA are tightly folded into compact chromosomes. Now, thanks to a new computational approach developed at the Salk Institute, researchers can use the architecture of these chromosome folds to differentiate between types of cells. The information about each cell’s chromosome structure will give scientists a better understanding of how interactions between different regions of DNA play a role in health and disease. The study was published in the Proceedings of the National Academy of Sciences the week of July 8, 2019.


Patrick Hsu named an MIT Technology Review 2019 Innovator Under 35

LA JOLLA—The Salk Institute announced that Helmsley-Salk Fellow Patrick Hsu has been named to MIT Technology Review’s prestigious annual list of Innovators Under 35. Every year, the media company recognizes a list of exceptionally talented technologists whose work has great potential to transform the world.


Uncovering the evolution of the brain

LA JOLLA—What makes us human, and where does this mysterious property of “humanness” come from? Humans are genetically similar to chimpanzees and bonobos, yet there exist obvious behavioral and cognitive differences. Now, researchers from the Salk Institute, in collaboration with researchers from the anthropology department at UC San Diego, have developed a strategy to more easily study the early development of human neurons compared with the neurons of nonhuman primates. The study, which appeared in eLife on February 7, 2019, offers scientists a novel tool for fundamental brain research.


Cells agree: what doesn’t kill you makes you stronger

LA JOLLA—We’ve all heard the expression: “what doesn’t kill you makes you stronger.” Now, research led by a Salk Institute scientist suggests why, at a cellular level, this might be true. The team reports that brief exposures to stressors can be beneficial by prompting the cell to trigger sustained production of antioxidants, molecules that help get rid of toxic cellular buildup related to normal metabolism.


An ATM that dispenses antioxidants

LA JOLLA—One reason we’re supposed to eat a variety of colorful fruits and vegetables is because they contain nutritious compounds called antioxidants. These molecules counteract the damage to our bodies from harmful products of normal cells called reactive oxygen species (ROS).


CRISPR genetic editing takes another big step forward, targeting RNA

LA JOLLA—Most people have heard of the CRISPR/Cas9 gene-editing technology, which acts as targeted molecular scissors to cut and replace disease-causing genes with healthy ones. But DNA is only part of the story; many genetic diseases are caused by problems with RNA, a working copy of DNA that is translated into proteins.


The right way to repair DNA

LA JOLLA—Is it better to do a task quickly and make mistakes, or to do it slowly but perfectly? When it comes to deciding how to fix breaks in DNA, cells face the same choice between two major repair pathways. The decision matters, because the wrong choice could cause even more DNA damage and lead to cancer.


Early gene-editing success holds promise for preventing inherited diseases

LA JOLLA—Scientists have, for the first time, corrected a disease-causing mutation in early stage human embryos with gene editing. The technique, which uses the CRISPR-Cas9 system, corrected the mutation for a heart condition at the earliest stage of embryonic development so that the defect would not be passed on to future generations.


Salk scientists solve longstanding biological mystery of DNA organization

LA JOLLA—Stretched out, the DNA from all the cells in our body would reach Pluto. So how does each tiny cell pack a two-meter length of DNA into its nucleus, which is just one-thousandth of a millimeter across?


Novel tool confers targeted, stable editing of epigenome in human stem cells

LA JOLLA—(May 4, 2017) Salk Institute scientists have developed a novel technology to correct disease-causing aberrations in the chemical tags on DNA that affect how genes are expressed. These types of chemical modifications, collectively referred to as epigenetics or the epigenome, are increasingly being considered as important as the genomic sequence itself in development and disease.


Identical twins; not-so-identical stem cells

LA JOLLA—Salk scientists and collaborators have shed light on a longstanding question about what leads to variation in stem cells by comparing induced pluripotent stem cells (iPSCs) derived from identical twins. Even iPSCs made from the cells of twins, they found, have important differences, suggesting that not all variation between iPSC lines is rooted in genetics, since the twins have identical genes.


Salk scientists expand ability of stem cells to regrow any tissue type

LA JOLLA—When scientists talk about laboratory stem cells being totipotent or pluripotent, they mean that the cells have the potential, like an embryo, to develop into any type of tissue in the body. What totipotent stem cells can do that pluripotent ones can’t do, however, is develop into tissues that support the embryo, like the placenta. These are called extra-embryonic tissues, and are vital in development and healthy growth.


Don’t kill the messenger RNA

LA JOLLA—FedEx, UPS, DHL—when it comes to sending packages, choices abound. But the most important delivery service you may not have heard of? mRNA. That’s short for messenger RNA, which is how your DNA sends blueprints to the protein-assembly factories of your cells. When a protein is faulty, delivering synthetic mRNA to cells could trigger production of a functional version. And that’s a message people with a variety of genetic diseases want to hear.


Finding our way around DNA

LA JOLLA—Most of us would be lost without Google maps or similar route-guidance technologies. And when those mapping tools include additional data about traffic or weather, we can navigate even more effectively. For scientists who navigate the mammalian genome to better understand genetic causes of disease, combining various types of data sets makes finding their way easier, too.


Small but mighty: tiny proteins with big roles in biology

LA JOLLA—We all know how hard it is to find something small like a dropped contact lens that blends into the background. It’s similarly tough for biologists to find tiny proteins against the complex background of the cell. But, increasingly, scientists are learning that such microproteins, which are overlooked by traditional detection methods, also have important biological roles to play.


Heart disease, leukemia linked to dysfunction in nucleus

LA JOLLA—We put things into a container to keep them organized and safe. In cells, the nucleus has a similar role: keeping DNA protected and intact within an enveloping membrane. But a new study by Salk Institute scientists, detailed in the November 2 issue of Genes & Development, reveals that this cellular container acts on its contents to influence gene expression.


How the cell’s power station survives attacks

LA JOLLA—Mitochondria, the power generators in our cells, are essential for life. When they are under attack—from poisons, environmental stress or genetic mutations—cells wrench these power stations apart, strip out the damaged pieces and reassemble them into usable mitochondria.


Salk scientists discover protein factories hidden in human jumping genes

LA JOLLA–Scientists have discovered a previously unknown wellspring of genetic diversity in humans, chimps and most other primates. This diversity arises from a new component of itinerant sections of genetic code known as jumping genes.


Stem cells move one step closer to cure for genetic diseases

LA JOLLA–Healthy brain, muscle, eye and heart cells would improve the lives of tens of thousands of people around the world with debilitating mitochondrial diseases. Now, researchers at the Salk Institute have gotten one step closer to making such cures a reality: they’ve turned cells from patients into healthy, mutation-free stem cells that can then become any cell type. The new approach is described July 15, 2015 in Nature.