Featured series 
Tag: Genetics
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Science & Tech
Early steps discovered in protein-making process
Translation, the synthesis of protein from an mRNA template, has long been considered a benign sequela to transcription. After all, dysregulation of transcription causes a multitude of human disorders, including cancer and metabolic diseases. But it turns out that translation is not so innocuous. Recent evidence has shown that dysregulation of two proteins involved in…
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Campus & Community
Bulyk searches for DNA on-off switches
Martha Bulyk held what looked like an ordinary glass slide up to the large window that is much of one wall of her Harvard Medical School office. The slide seemed to be blank, but a puff of breath exposed row after row of tiny dots, appearing like the hidden writing of a secret message. But…
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Campus & Community
HapMap reveals roots of common diseases
The genes that everyone inherits contain coded information that influences which diseases any individual is most at risk of getting. Countless studies show that small variations in genes play a major role in a host of common maladies that produce untold suffering and premature death. However, progress in tying these variations to specific maladies has…
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Campus & Community
HapMap: First look at ‘order in variety’ of human genome
The completion of the human genome sequence in 2003, though momentous, was only the first step toward grasping the core mechanisms of human biology and disease. This ultimate biomedical goal also requires a comprehensive catalog of the genetic diversity in the human genome sequence across human populations. A flurry of high-profile scientific papers published this…
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Science & Tech
First edition of HapMap released
A flurry of high-profile scientific manuscripts published in October 2005 describe both the content and uses of HapMap, a catalog that maps human genetic variation and relates it both to disease and to human evolutionary history. HapMap gives scientists worldwide a first good look at the “order in variety” that is the human genome. All…
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Campus & Community
Chimp genome effort shines light on human evolution
A research effort, led by scientists at the Broad Institute of MIT and Harvard, the Washington University School of Medicine in St. Louis, and the University of Washington, Seattle, focused on the chimpanzee in hopes that genetic comparisons with humanity’s closest relative will lead to answers to both practical questions – such as the causes…
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Science & Tech
Genome scanning technique spots disease risk
A new technique, admixture mapping, takes advantage of the higher-risk genetic segments from one population that show up in the other through generations of racial mixing. The presence of higher-risk segments in the otherwise lower-risk DNA makes for more efficient sorting of the genome to zero in on disease genes. The study, led by David…
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Science & Tech
Harvard, MGH researchers track egg cell production to marrow
In a series of experiments on sterile female mice, Massachusetts General Hospital (MGH) researchers were able to restore egg production by transplanting bone marrow from fertile mice. The researchers believe that egg stem cells in the donor bone marrow established themselves in the sterile mice and began producing egg cells. The results are published in…
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Health
Subtle changes in normal genes implicated in breast cancer
Scientists found that benign cells surrounding breast cancers undergo epigenetic modifications. The altered gene function causes the microenvironment cells to signal proliferation and increased aggression in the breast tumor cells. Kornelia Polyak, M.D., Ph.D., is senior author of the paper, which was posted as an advance online publication on the Nature Genetics Web site. Min…
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Health
Scientists identify normal gene driving the growth and survival of melanoma cells
Dana-Farber’s Levi Garraway, M.D., Ph.D., and William Sellers, M.D., the paper’s first and senior authors, and their colleagues reported their findings in the July 7, 2005 issue of the journal Nature. The researchers used single nucleotide polymorphism (SNP) array technology, which focuses on the building blocks of individual genes, to identify regions of chromosomes where…
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Health
DNA-scanning technology finds possible sites of cancer genes in chromosomes of lung cancer cell
In a study in the July 1, 2005 issue of the journal Cancer Research, the researchers used single nucleotide polymorphism (SNP) array technology to identify regions of chromosomes where genes were either left out or multiplied over and over – mistakes that are often associated with cancer. In this effort, SNP arrays have been used…
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Health
Disease mutation tracked down, ending ‘curse’ for Colombian families
Three years later, Joseph Arboleda-Velasquez, an HMS graduate student who led the scientific team that identified the mutations, and his collaborators have worked out an early step in the events leading from the mutated gene to the disease phenotype. The findings were published online April 27, 2005 in Human Molecular Genetics. The new paper may…
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Health
Gene clue to brain asymmetry revealed on right side
Although many assumed that the asymmetry-producing genes, when found, would be more highly expressed on the left side of the brain than the right, Sun Tao, Christopher A. Walsh, and their colleagues found otherwise. One gene, LMO4, that showed the most consistent difference was much more highly expressed on the right. The researchers found that…
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Health
‘Brown fat’ cells hold clues for possible obesity treatments
In laboratory studies of mouse cells, the research team identified genes that govern how precursor cells give rise to mature brown fat cells. There are two main types of fat cells in the body- white, designed to store energy for use in times of need, and brown, which burn energy and generate heat, leading scientists…
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Health
Left- or right-brain? Genes may tell the story
According to HHMI investigator Christopher A. Walsh, postdoctoral fellow Tao Sun, and their colleagues at Beth Israel Deaconess Medical Center and Harvard Medical School, their discovery that a gene called LM04 is expressed differently on the two sides of the brain may help understand how one side of the brain is dominant in most people.…
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Health
TB susceptibility gene identified
As many as one out of three people in the world are infected with the bacteria that causes tuberculosis, public health experts estimate. That could lead to a global plague were it not for the fact that only one out of 10 infected people actually develops the disease. Still, TB is a major global health…
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Health
Joslin Diabetes Center scientists find genetic defects in immunological tolerance
The genetic defect keeps the body from properly dealing with “errant” immune cells that it normally eliminates by a process called immunological tolerance. These immune cells then attack the insulin-producing beta cells in the pancreas, mistaking them for foreign invaders. This is the first step in the onset of type 1 diabetes. The pancreatic beta…
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Health
Researchers find better way to predict stroke risk in sickle cell anemia patients
Researchers from Children’s Hospital Boston, Boston University School of Public Health (BUSPH), Boston University School of Medicine (BUSM), Boston Medical Center (BMC) and Harvard Medical School have developed a novel approach to predict the risk of stroke in these patients using their genetic variations. This approach is based on a data mining method called Bayesian…
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Health
Largest twin study of age-related macular degeneration finds genetics and environment play large role in disease
Researchers led by Johanna M. Seddon, M.D., at the Massachusetts Eye and Ear Infirmary, Harvard Medical School and Harvard School of Public Health conducted the largest study of twins of its kind. Analyses of twins showed that genetic factors play a substantial role in the etiology of AMD and associated macular characteristics, explaining 46 percent…
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Campus & Community
Researchers devise cheaper way to make genes
Harvard researchers have devised a way to greatly decrease the cost of making artificial genes in the laboratory, an advance that could increase the ability of geneticists to explore and test new theories about the building blocks of life. Harvard Genetics Professor George Church said that after years of technological advances, gene synthesis – or…
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Health
Protein packages activate genes
It’s all in the packaging. How nature wraps and tags genes determines if and when they become active, according to researchers from Harvard and M.I.T. They did the largest, most detailed study to date of the protein structure that surrounds the human genome. Their findings reveal surprising and previously unknown specifics of how genes get…
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Health
Scientists discover “master switch” that triggers insulin resistance and type 2 diabetes
“We zeroed in on a factor called NF-kB,” said principal investigator Steven E. Shoelson, M.D., Ph.D., Helen and Morton Adler Chair and head of the Section on Cellular and Molecular Physiology at Joslin, and professor of Medicine at Harvard Medicine School. Shoelson said that activating NF-kB in the livers of laboratory animals incited inflammatory responses.…
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Health
RNA-making apparatus seen to uncoil and recoil DNA
Eukaryotic cells like to keep their DNA under wraps, winding the long strands of nucleic acid around millions of little protein complexes. This bead-on-a-string structure, called chromatin, ensures that the DNA is protected and also helps to condense the long strands of nucleic acid so they more easily are accommodated in the nucleus. Chromatin also…
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Health
Researchers identify gene’s role in suppressing longevity
SIRT1 is involved in cellular senescence, or limitation of cells’ reproductive lifespan, a process thought to ensure that aging cells don’t pass on harmful mutations. Frederick W. Alt, a Howard Hughes Medical Institute investigator at Children’s Hospital and Harvard Medical School, and colleagues suppressed SIRT1 activity in cultures of mouse embryonic fibroblasts, or primitive cells…
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Health
Researchers find a gene for fear
A team of researchers from Harvard, Columbia, and Rutgers universities has found the seat of fear. It’s located in a pea-sized area deep in the brain of all mammals, from gerbils, to lions, to humans. And it’s involved in both inborn fear and the dread we acquire from dealing with people and things that hurt…
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Health
Faulty gene signaling could lead to development of Crohn’s disease
According to the study’s lead author, Brigham Women’s Hospital’s Derek W. Abbott, “The discovery of this faulty signaling process is a first step in helping us understand and ultimately address the underlying mechanism that causes Crohn’s disease to develop.
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Health
DNA splicing enzyme observed in action
Researchers in the lab of Tom Ellenberger, the Hsien Wu and Daisy Yen Wu professor of biological chemistry and molecular pharmacology at Harvard Medical School, reported the doughnut shape of human ligase I in the Nov. 25, 2004 issue of Nature. The details revealed by the ringlike structure suggest new ideas about the functions of…
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Health
Gene expression profiling helps in ovarian cancer prognosis
Steven A. Cannistra, M.D., director of Gynecologic Medical Oncology at BIDMC and associate professor of medicine at Harvard Medical School, says ovarian cancer is often not detectable until its later stages. At that point, he adds, doctors typically use clinical data to assess a patient’s prognosis and determine her course of therapy, a method that…
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Health
Surprising variations discovered in human genomes
Researchers from Harvard Medical School and the University of Toronto in Canada looked at 55 healthy, unrelated men and women, and they discovered 255 regions with relatively large gains or losses in their DNA. “We were extraordinarily surprised to see that some people have so much more or less DNA,” says Charles Lee, a geneticist…
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Health
Study yields insights into precancerous condition
Caused by a mutation that inactivates the tumor suppressor gene LKB1, PJS causes gastrointestinal polyps that have a 30 to 50 percent chance of becoming cancerous, says senior author Lewis Cantley, PhD, chief of the Division of Signal Transduction at Beth Israel Deaconess Medical Center (BIDMC) and a member of the Department of Systems Biology…