Featured series 
Tag: Genetics
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Health
Newly identified gene linked to brain development
Bilateral frontoparietal polymicrogyria (BFPP) is a recessive genetic disorder resulting in severely abnormal architecture of the brain’s frontal lobes, as well as milder involvement of parietal and posterior parts of the cerebral cortex, which is “the part of the brain that distinguishes humans from other species,” says the study’s senior author, Christopher A. Walsh, M.D.,…
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Health
Cystic fibrosis gene linked to fatty acid defects
Researchers already understood that the defective CFTR gene causes CF, explains senior author Steven D. Freedman, M.D., Ph.D., of the gastroenterology division at BIDMC and associate professor of medicine at Harvard Medical School. “But we didn’t understand how this defective gene leads to the symptoms of the disease. This new study sheds light on what…
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Health
Researchers shed light on myotonic muscular dystrophy
Research by scientists at Beth Israel Deaconess Medical Center (BIDMC) helps to explain the wide range of signs and symptoms associated with myotonic muscular dystrophy (MMD). The findings appeared in the Dec. 4, 2003 issue of Science Express, the advance online edition of the journal Science. “Typically in genetic diseases, a mutation affects a single…
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Science & Tech
Puberty gene identified
A gene discovered by Harvard researchers and their colleagues in England makes a protein necessary to trigger a hormonal cascade that flows from the brain to the gonads. Without it, the researchers have shown, humans and mice do not become sexually mature. Stephanie Seminara, an assistant professor of medicine at Harvard Medical School, called the…
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Health
Did life originally spring from clay?
While the research is a far cry from proving that humans sprang from clay, as some creation myths assert, it does provide a possible mechanism for explaining how life initially arose from nonliving molecules. Researchers at the Howard Hughes Medical Institute and Massachusetts General Hospital showed that the presence of clay aids naturally occurring reactions…
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Campus & Community
Breast cancers tied to brain survival
A gene produces a protein that evidently protects cancer cells in the same way it shields brain cells from damage caused by diseases like Alzheimer’s and strokes. “The same substance can be doubly harmful to some people with invasive breast cancer because it protects the tumor cells from death,” notes Kornelia Polyak, an assistant professor…
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Science & Tech
Seeing the hole truth
Folding is a big deal in biology. It not only changes a molecule’s shape but its function. Take the proteins made by genes. Folded one way, they can activate processes necessary for a healthy life. Folded another way, they can trigger the wild cell growth known as cancer. Now, using holes as tiny as 30…
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Science & Tech
Spotlight on the Dark Ages
“Medievalists are just beginning to be aware of the implications of the revolutions now occurring in the life sciences for the knowledge of the past,” says Michael McCormick, the Francis Goelet Professor of Medieval History. “Ancient DNA has proven to be remarkably tough and, even though it is usually no longer completely intact, enough can…
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Health
Kidney disease genes tied to flow sensing
Polycystic kidney disease, or PKD, is the most common life-threatening genetic disease. It is caused by mutations in one of two genes. Though the genetic defect that causes PKD is known, how it leads kidneys to enlarge and choke with fluid-filled cysts has been frustratingly elusive. A new line of evidence points to a cellular…
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Health
Gene signature identifies leukemia patients who should avoid transplants
It was previously known that only slightly over half of the patients with adult T-cell acute lymphoblastic leukemia (ALL) could be cured with chemotherapy. Adult ALL patients often undergo transplants in an effort to beat back the stubborn disease. Until now there was no way to identify those who have a more favorable outlook and…
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Health
Scientists discover gene “signature” for tumor’s tendency to spread
Most cancer deaths are caused not by the original or primary tumor but by the metastasizing of tumor cells to other organs. Until now, cancer specialists have viewed the development of metastasis as an essentially random and unpredictable event. But that notion is thrown into question with the new finding of a genetic “signature” –-…
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Health
Researchers shed light on genetic defects that cause diabetes
New findings by researchers at Joslin Diabetes Center visualize the protein that is mutated in most individuals having a form of diabetes called Maturity Onset Diabetes of the Young (MODY). “These findings, reported in the November 2002 issue of the journal Molecular Cell, provide a clear picture of why mutations cause diabetes and potential avenues…
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Health
Key gene discovered for obesity and diabetes
Obesity is closely associated with insulin resistance and is one of the leading risk factors for type 2 diabetes. Both affect more than 50 percent of the U.S. population. Little has been known about the molecular mechanisms linking these two metabolic diseases. Both are associated with a wide range of inflammatory molecular activity in fatty…
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Science & Tech
Genetic sonograms may reduce need for amniocentesis
Radiologist Beryl Benacerraf is a Harvard Medical School clinical professor of obstetrics, gynecology and reproductive biology at Brigham and Women’s Hospital. Benacerraf, a handful of like-minded maternal-fetal ultrasound specialists, and a growing number of older pregnant women believe in clarifying the risk of a genetic abnormality in a fetus by adding a detailed ultrasound known…
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Health
Hormone receptor variation linked to cancer risk
Endometrial cancer is the fourth most common cancer in women in this country, according to National Cancer Institute statistics. Progesterone’s important protective role showed up three decades ago, articulated in the unopposed estrogen theory. In the early 1970s, researchers documented that a woman on unopposed estrogen replacement therapy had a 10 times higher chance of…
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Health
Dual signals may drive early breast cancer
Researchers from the lab of Joan Brugge, Harvard Medical School professor of cell biology, may have uncovered one of the central mechanisms of breast cancer. They found that dual signals provided by ErbB2, a cancer-associated gene commonly known as HER2, appear to be required to disrupt the framework of a breast gland during early tumor…
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Health
Genes found that regulate brain size
A gene that builds bigger brains, called beta-catenin, was discovered in the laboratory of Christopher A. Walsh, Bullard Professor of Neurology at Harvard Medical School. Researchers there engineered increased activity into the beta-catenin gene in mice, and the mice brains grew to almost twice the usual size. Not only that, but the cerebral cortex, seat…
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Health
Resistance mutation found for Gleevec
The drug Gleevec was stunningly successful in treating patients with chronic myelogenous leukemia (CML) at early stages of disease, but quickly stopped working in most patients with more advanced forms of CML. Last year, researchers at UCLA headed by Charles Sawyers found that some resistant patients carried a mutant version of Bcr-Abl. The original mutation,…
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Health
Scientists discover chemical switch that determines muscle fiber type
Published in the Aug. 15, 2002 issue of the journal Nature, findings from a multi-institutional team describe the pivotal role of a molecule called PGC-1 in transforming “fast twitch” fibers (Type II) to “slow twitch” fibers (Type I). “Fast twitch” fibers create the bulkier, strong but quickly fatigued muscles of weightlifters or sprinters. Most muscles…
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Science & Tech
RNA technology thwarts HIV
RNA interference (RNAi) is a naturally occurring phenomenon by which cells guard themselves against viruses. The process involves post-transcriptional gene silencing in which specific RNA sequences get chopped into small pieces after binding to complementary short interfering RNAs (siRNA). These siRNAs can target either host mRNAs or viral genomic or messenger RNAs. As a consequence,…
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Health
Six new breast cancer-susceptibility genes found
The discovery of six new cancer-susceptibility genes grew out of more than 10 years of research by Alan D’Andrea into Fanconi anemia, a condition known to affect only 500 families in the United States. Children born with the condition usually develop bone marrow failure early in life, leaving them unable to produce oxygen-carrying red blood…
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Science & Tech
The next big thing in mining the genome
About 99.9 percent of the 3.1 billion base pairs in the human genome are the same from person to person. The remaining 0.1 percent of differences comprises more than 10 million common single-letter genetic variations (and many more rare variants) scattered through the genome. By the numbers, a comprehensive search for the multiple genetic contributions…
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Health
Researchers uncover remaining critical insulin gene regulatory factor
Scientists have known the identity of two genes that can influence the ability of insulin genes to trigger insulin production in the beta cells of the pancreas. Through subsequent research it has been demonstrated that these two genes are at least partially responsible for a form of diabetes called maturity onset diabetes of the young…
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Health
New tool speeds study of mammalian protein function
A new technology developed by Harvard Medical School researchers in the laboratory of Yang Shi, associate professor of pathology, extends the range of possibilities of selective interference of gene expression without having to manipulate DNA in the egg or embryo. The new technology makes it possible to turn off genes in a highly specific manner,…
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Science & Tech
Genetic computation tells man from microbe
By one estimate (based on bacteria counts in the colon or stool samples), microbes that call our bodies home outnumber human cells 10 to 1. Most of the bacteria, viruses, and other microbes are harmless or even beneficial. But others are suspected of being at the root of mysterious chronic diseases such as rheumatoid arthritis,…
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Science & Tech
Study examines data withholding in academic genetics
Eric G. Campbell, of the Institute for Health Policy at Massachusetts General Hospital and Harvard Medical School, and his colleagues recently surveyed geneticists and other life scientists at the 100 U.S. universities that received the most funding from the National Institutes of Health in 1998. Data was received from a total of 1,240 geneticists and…
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Health
Biostatisticians crunch data vital to AIDS research, genetics
Broadly defined, statistical genetics is the development of methods to analyze DNA. In recent years, the term has been more specifically applied to gene mapping, or the search for locations of genes related to diseases, and to the analysis of drug therapies. Statistical genetics plays a significant role in what some experts predict to be…
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Health
Technique enables quick accounting of gene function
Now that whole genomes have been sequenced, a group of scientists has geared up for the next phase: identification and classification of newly discovered coding regions. The DNA microchip, developed just a few years ago, has already become a standard tool in the geneticist’s repertoire. With genomic sequence in hand, the researcher can synthesize all…
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Health
Polarity gene yields clues to organization of cell signaling, structural growth
Researchers are beginning to understand how a gene called “stardust” works to set up the basic top-down architecture of the epithelial cells that line the gut, skin, and many other organs of an embryo. Working with Norbert Perrimon, Harvard Medical School (HMS) professor of genetics, Beth Stronach, HMS research fellow in genetics, has cloned the…
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Health
Sickle cell disease cured in mouse model
Sickle cell disease is a blood disorder caused by a single mutation in the beta-globin gene that results in the substitution of one amino acid. This small error is enough to change the properties of the protein: when “sickled,” the blood’s hemoglobin dumps its oxygen in tissues, and it tends to stick to itself. This…