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Research Highlights 1952-2005

Johns Hopkins Medicine Research Highlights 2005

We are proud of Johns Hopkins scientists for receiving more research funding from the National Institutes of Health (NIH) than faculty at any other institution every year since 1991. We are even more proud of their research results’ potential to improve the health of people in the United States—and throughout the world 

Skip to 1952-2004 
Research Highlights

A sampling of our scientists’ 2005 results:

  • Discovered the first human gene mutation that causes extreme farsightedness, a condition known as nanophthalmos, which is Greek for “dwarf eye,” a rare and potentially blinding disorder.
  • Discovered that embryonic stem cells, although able to regenerate indefinitely under careful laboratory conditions, do accrue genetic alterations over time.
  • Discovered specific cells of the monkey brain that perceive pitch, the different characters of a sound, which has implications for helping those with speech or hearing problems.
  • Identified proteins that control the entry and exit of calcium into specific brain cells by switching the type of protein found at the cell surface.
  • Discovered that two genes already known to control cell movement also are needed for proper cell division, potentially opening new doors in cancer research.
  • Completed a 15-year search for the genetic cause behind the rare Roberts syndrome, a condition that often leaves patients with cleft lip and palate and shortened limbs resembling babies whose mothers took thalidomide during pregnancy. The gene, called ESCO2, ensures that chromosomes are separated properly during cell division.
  • Developed a new method to study the earliest steps of human blood development by using human embryonic stem cells grown in a lab dish.
  • Discovered that the p53 gene, well known for its role in promoting cancer, also contributes to nerve cell death in Huntington disease.
  • Developed a faster and more objective method using powerful microscopes and computer software to examine surfaces of fossilized teeth to study ancient diets. Early humans, it turns out, ate everything.
  • Designed a novel, complex birthing simulator that identified what may be the least forceful way to deliver a baby whose shoulders are stuck in the birth canal.
  • Found that a family of antibiotics that includes penicillin may help prevent nerve damage and death in a wide variety of neurological diseases, including Lou Gehrig’s disease, dementia, stroke and epilepsy.
  • Discovered two previously unknown effects of Viagra (sildenafil citrate): In the first study to show that sildenail is an effective treatment for a chronic heart condition, researchers found that it helps mice with enlarged hearts, stopping further muscle growth from occurring and reversing existing growth, including the cellular and functional damage it created. Another study found that sildenafil reduces the stimulatory effects of hormonal stress on the human heart by half.  The findings are believed to be the first confirmation in humans that sildenafil has a direct effect on the heart. Previous Hopkins studies showed that it blocked the short-term effects of hormonal stress in the hearts of mice.
  • Used magnetic resonance spectroscopy (MRS) for the first time to examine energy production biochemistry in a beating human heart, discovering that failing hearts are “energy deficient.” The finding provides the groundwork for devising new treatments for heart failure that reduce energy demand and/or augment energy transfer.
  • Discovered that emotional shock can trigger sudden, severe but reversible heart failure that is not a classic heart attack but mimics one. Patients with stress cardiomyopathy, or “broken heart” syndrome, often are misdiagnosed with a massive heart attack when instead they have suffered from a surge in adrenalin and other stress hormones that temporarily “stun” the heart.
  • Determined that some immune cells are “smarter” than others and may prove effective in designing cancer therapies that can educate the body’s immune system to recognize and kill cancer cells.
  • Demonstrated in collaboration with the Massachusetts Institute of Technology that a national matching program for kidney paired donation (KPD), also called paired kidney exchange, would ensure the best possible kidney for the greatest number of recipients who have incompatible donors. Another study affirmed the success of living KPD procedures as a means of efficiently finding more kidney donors who are a match for patients in need. The study could pave the way for a national matching registry that would enable patients who cannot receive a kidney from a loved one to be transplanted by exchanging donors with a stranger.
  • Found that modern implanted heart devices—such as pacemakers and defibrillators—are safe for use in magnetic resonance imaging (MRI) machines, a diagnostic and imaging tool long ruled potentially unsafe and off-limits for more than 2 million Americans who currently have such heart devices in their bodies.
  • Initiated what is believed to be the first clinical trial in the United States of the safety of injecting adult mesenchymal stem cells into patients to repair muscle damaged by a heart attack.
  • Devised a way around a persistent barrier to successful adult stem cell therapy for millions of Americans who have survived a heart attack but remain at risk of dying from potentially fatal, chronic heart rhythm disturbances.
  • Concluded a study showing that stem cell therapy can be used effectively to treat heart attacks in pigs. In only two months, stem cells harvested from one pig’s bone marrow and injected into another’s damaged heart restored heart function and repaired damaged heart muscle by 50 percent to 75 percent.
  • Found that moderate levels of exercise may not be enough to control mild hypertension in men and women over the age of 55, the age group most at risk of later developing potentially fatal heart failure.
  • Determined that variety in leisure and physical activity, not its intensity in terms of calories expended, may reduce dementia risks in older people—although an association between the variety of activity and dementia risk did not hold up in those with the so-called APOE-4 genetic predisposition to the disease.
  • Demonstrated that siblings in families with a history of heart disease have more reason than most to keep their weight down. In what is believed to be the first measure of additional risk from increased body mass (BMI) in such individuals, siblings who were obese or overweight had a 60 percent increased risk of suffering a serious heart ailment before the age of 60.
  • Found that enzymes which make the gas nitric oxide (NO) not only protect the heart from damage due to high blood pressure or a heart attack, but also conversely can promote heart failure through overgrowth and enlargement of the muscle tissue. The results of this study involving mice are believed to be the first to suggest future therapies for heart failure using chemical cofactors that control the enzymes’ action.
  • Showed in the first clinical study of a new blood protein associated with prostate cancer that the marker, called EPCA or early prostate cancer antigen, can successfully detect prostate cancer in its earliest stages. At the same time, the marker successfully avoids the problem of false positive results that plagues prostate-specific antigen (PSA) testing.
  • Debunked the myth that exercising to lose excess body fat, unlike dieting alone, comes at a cost to bone health. The finding determines that for those age 55 to 75, moderate physical exercise generally maintains bone mass and, in some cases, offers modest improvements.
  • Uncovered how a majority of the genetic changes in the hepatitis-C virus, the most common cause of liver disease, enable it to evade the body’s immune system during infection. The discovery could lead to development of a vaccine that is effective against both acute and chronic hepatitis-C infections.
  • Identified three risk factors and developed a simple tool that physicians can use to determine which men are most likely to die from prostate cancer recurrence following surgery and who would benefit from further treatment.
  • Used a magnetic resonance imaging (MRI) technique called diffusion-weighted MRI (DWI) for what may have been the first time to successfully determine the effectiveness of high-intensity focused ultrasound for treating uterine fibroids, which are noncancerous tumors that line the uterine wall and can cause intense pain and bleeding.
  • Found that interferon, used for 30 years to treat blood cancers, multiple sclerosis and hepatitis, selectively kills colon cancer cells when combined with another standard chemotherapy agent. The combination could be more potent than either drug alone and has fewer side effects.
  • Used magnetic resonance imaging (MRI) to tag the work of millions of individual strands of heart muscle fibers, successfully mapping the smallest deformations inside the beating hearts of 441 middle-aged and elderly men and women. This is believed to be the first use of MRI to gather initial clues of how heart disease develops.
  • Determined that performing cardiac stress tests that measure exercise capacity and heart rate recovery can improve dramatically on existing techniques that predict who is most likely to suffer a heart attack or die from coronary heart disease.
  • Participated in one of the largest breast cancer screening studies ever and determined that digital mammography is better than standard X-ray mammography at locating cancer in young women and those with dense breast. Performed by the American College or Radiology, the study involved 42,760 women at 33 sites in the United States and Canada, including Hopkins.
  • Worked with researchers at The Cancer Institute of New Jersey to identify a molecular pathway in mice that makes prostate cells vulnerable to cancer-causing oxygen damage. The pathway, which is also involved in human prostate cancer, may help determine how and whether antioxidants, such as certain vitamins or their products that reverse that damage, can prevent prostate cancer.
  •  Discovered a single molecule that is a cause of an autoimmune disease in the central nervous system, called transverse myelitis (TM), that is related to multiple sclerosis. This is the first time a single culprit has been identified as causing a central nervous system autoimmune disease.
  • Found through the use of magnetic resonance imaging (MRI) scans of the heart wall that people whose muscle wall thickness contained more than 25 percent of scar tissue were approximately nine times more likely to test positive for a fast, potentially fatal heart rhythm known as ventricular arrhythmia. Such scans of heart muscle scar tissue could become the gold standard for determining which patients need or do not need implanted heart defibrillators.
  • Reported the results of a study showing that nine percent of children allergic to almonds, pecans, cashews and other tree nuts outgrow their allergy over time, including those who have had a severe reaction such as anaphylaxis shock.
  • Found that the use of a cardiopulmonary heart pump during coronary artery bypass grafting (CABG) surgery does not significantly damage a patient’s subsequent ability to perform such high-level mental tasks as thinking, reasoning and remembering.
  • Successfully experimented with a 3D map of canine hearts and sensor-guided catheter to perform cardiac ablation, a mainstay treatment that stops abnormally fast and potentially fatal heartbeats, or arrhythmias. Testing in humans now is under way.
  • Demonstrated for the first time that a compound called alagebrium, which is similar to another used in anti-wrinkle creams, may be useful in reducing the deleterious effects of arterial aging in the majority of elderly Americans with systolic hypertension.
  • Concluded a study that may change the rules for treating heart failure, finding that people with so-called nonsystolic heart failure—marked by relatively normal pumping action—might be better off without beta blockers that slow down the heart and worsen blood vessel function and instead benefit from pacemakers or drugs that enhance blood vessel dilation.
  • Found that shifting about 10 percent of a person’s caloric intake from carbohydrates to either protein-rich foods, mostly from plant sources, or to monounsaturated fats, contained in olive and canola oil, provides a major benefit to the heart by reducing blood pressure and cholesterol levels.
  • Proved that cochlear implants in very young animals prevent or reverse damage to the brain ’s auditory nerve system. Research clearly demonstrated that cochlear implants in cats forged normal nerve fibers that transmit sound, indicating to parents of children who are born deaf that if cochlear implants are being considered, the earlier they are done, the better.
  • Found that women with a serious caffeine habit and a family history of alcohol abuse are more likely to ignore advice to stop using caffeine during pregnancy. The study suggests that genetic vulnerability reflected in a family history of alcoholism may also be at the root of the inability to stop caffeine use.
  • Found that a modified version of the popular low-carbohydrate, high-fat Atkins diet is nearly as effective at controlling childhood epileptic seizures as the highly restrictive ketogenic diet, without its drawbacks and side effects.
  • Provided the most comprehensive description to date of the people most likely to develop a relatively rare heart condition called arrhythmogenic right ventricular dysplasia (ARVD), known to be among the top causes of sudden cardiac death among young athletes. Up to 10 cardiac tests are required to confirm a diagnosis of ARVD, which can be misdiagnosed if physicians rely on a single diagnostic test, such as an MRI.

Research Highlights 1952-2004

  • Identified the specific genetic makeup of human transplantation antigens among different American Indian tribes, an advance toward assuring more compatible organ transplants for a population with a need for donor kidneys due to a high incidence of diabetes and end-stage renal disease.
  • Discovered that some prostaglandins, produced by the enzyme COX-2, can protect brain cells from damage after strokes.
  • Identified C-reactive protein (CRP), already a known marker of inflammation associated with increased risk of heart disease, as an indicator of colon cancer risk.
  • Discovered that substituting a simple bleach solution for more complex tools makes a DNA separation technique called electrophoresis five times faster and less costly.
  • Discovered mutations in a gene linked to the progression of colon and other cancers that may lead to new therapies and diagnostic tests that target this gene.
  • Identified creatinine, a breakdown product of muscle, as a new predictor of coronary heart disease.
  • Discovered that arsenic, long used to treat certain leukemias, may work even better when combined with bryostatin, a toxin found in coral-like aquatic organisms.
  • Made what is believed to be the first link between a homeobox gene that controls blood vessel growth and breast tumor cell growth.
  • Developed a blood test that can predict the onset of liver cancer in hepatitis B patients.
  • Designed an online, Web-based system for ordering total parenteral nutrition (TNP) that identifies and eliminates potentially serious calculation errors.
  • Demonstrated that senior citizens who volunteer in troubled urban schools not only enhance the educational experience of children but also realize meaningful improvements in their own mental and physical health.
  • Developed a simpler way to make millions of druglike peptides, overcoming a major hurdle in creating and screening huge “libraries” of these super-short proteins for use in drug development.
  • Discovered that nitric oxide, a chemical messenger involved in functions ranging from erection to nerve communication, also shuts down a protein involved in Parkinson’s disease, providing a new target for developing treatments to slow or stop the disease.
  • Helped demonstrate that a single problem involving cilia accounts for obesity, learning disabilities and eye and kidney problems in people with Bardet-Biedl syndrome (BBS).  Although BBS is rare, the discovery may apply to these symptoms in the general population.
  • Identified a gene that when altered makes cells and animals age prematurely and die, providing a new target for therapies that force cancer cells to an early death.
  • Directed stem cells to overcome a basic hurdle in restoring function to severely damaged central nervous systems by enabling new motor neurons to migrate through the spinal cord in rats.
  • Combined real-time positron emission tomography with computed tomography (PET/CT) to create a sensitive tool for identifying patients whose non-small cell lung cancer has not yet spread to lymph nodes.
  • Found that men over 50 with high blood levels of testosterone have an increased risk of prostate cancer, casting doubt on the safety of testosterone replacement therapy.
  • Found that glamorized images of violence on television and rap videos can be countered by open discussions with at-risk children and teenagers, showing them pictures of what violence-induced wounds actually look like.
  • Found that supplemental oxygen delivered through the nose may improve poor vision caused by diabetic macular edema, a fluid buildup in the part of the eye responsible for central vision often afflicting diabetic patients.
  • Engineered experiments in fruit flies showing that lost sperm-making stem cells are replaced not by the work of remaining stem cells but by reversal of more specialized cells, one of the first examples of an artificially triggered reversal of cell destiny.
  • Developed the basis of an inexpensive, simple urine test that identifies impending kidney failure or rejection following transplants.
  • Collaborated on research that found the effectiveness of tamoxifen, a commonly used breast cancer drug, is decreased by a gene mutation in some women and by some frequently prescribed antidepressants.
  • Found that a drug called atrasentan reduces the risk by 20 percent that cancer will progress in men with advanced hormone-resistant prostate cancer, potentially postponing more aggressive therapy.
  • Co-developed a new treatment for thyroid cancer using a genetically engineered thyroid stimulating hormone that avoids most of the debilitating side effects of current postsurgical treatment.
  • Helped obtain the first evidence that the myostatin protein normally limits muscle growth in people, just as it does in mice, a finding which means that myostatinblocking drugs, now in Phase 1 clinical trials, are likely to help people with muscle wasting conditions.
  • Found that children who outgrow a peanut allergy have a slight chance of recurrence, but the risk is much lower in children who frequently eat peanuts or peanut products.
  • Reported that a new, minimally invasive surgical technique, performed by inserting a flexible, mini-telescope and related surgical tools through the mouth, could dramatically change the way surgery is practiced by avoiding major abdominal incisions.
  • Developed what is believed to be the first successful gene therapy in animals that mimics the action of calcium channel blockers, agents widely used in the treatment of heart diseases.
  • Showed that it may be possible to “educate” the immune system to recognize rather than destroy human embryonic stem cells, thereby reducing the risk of rejection if the primitive cells someday are transplanted into people with conditions such as Parkinson’s disease or diabetes.
  • Tested a new molecular method for detecting cancer in a blood sample with as few as 50 cells, a procedure that may be especially helpful in finding scarce cancer cells in breast fluid.
  • Participated in a three-year international study showing that docetaxel, a drug made from yew tree needles, extends the life of advanced-stage prostate cancer patients resistant to hormone therapy, decreasing their chance of dying by 24 percent.
  • Demonstrated that modern implanted heart assist devices such as pacemakers and defibrillators can be safe for use in magnetic resonance imaging (MRI) machines.
  • Designed a blood test to detect ovarian cancer using three proteins found in the blood of women with the disease.
  • Solidified evidence that withdrawal symptoms from caffeine are worthy of inclusion in DSM, the Diagnostic and Statistical Manual of Mental Disorders.
  • Determined that having a sibling with early heart disease is a better predictor of a person’s likelihood of developing coronary heart disease than parental history or traditional risk-factor scoring.
  • Found that episiotomy, a routine widening of the vagina during a complicated birth, does not reduce the risk of injury to infants, which should prevent unnecessary trauma to mothers and babies.
  • Built a powerful “toolkit” that quickly uncovers how yeast’s genes interact with each other. Because 60 percent of yeast genes have at least one clear human counterpart, the toolkit should advance therapies for cancers or fungal infections.
  • Developed a fast and safe method for collecting heart stem cells from small amounts of biopsied heart tissue and growing them in the lab to facilitate rebuilding destroyed heart muscle.
  • Determined that the use of high-dose vitamin E supplements, in excess of 400 IU (international units) per day, increases the risk of death.
  • Discovered evidence that the brains of some people with autism show clear signs of inflammation, suggesting that the disease may be associated with activation of the brain’s immune system.
  • Showed that the number of catheter-related bloodstream infections, which lead to 28,000 deaths a year, can be nearly eliminated if ICUs implement cheap and simple interventions, such as  streamlining the catheter insertion process and using a safety checklist.
  • Determined that two weekend doses of atropine eyedrops are just as effective as daily eyedrop treatments for treating children with lazy eye—the first time these two treatment techniques have been compared.
  • Identified a gene that functions as an oncogene (or cancer-causing gene) and may play a key role in the development of leukemia and other cancers in children and adults.
  • Researchers find that patients in an intensive care unit (ICU) whose care is managed by "intensivists" – physicians specially trained in critical care medicine – have a greater chance of survival and shorter hospitalizations. (2002)
  • Scientists discover that in vitro fertilization (IVF) appears to be associated with a rare combination of birth defects characterized by excessive growth of various tissues. (2002)
  • A study shows that two proteins, C-reactive protein and albumin, are accurate predictors of heart attack or stroke in kidney dialysis patients. (2002)
  • Scientists successfully detect ovarian cancer using a blood test for DNA shed by tumors.  (2002)
  • An animal study shows a battery-operation compression belt buckled around the chest restores blood flow better than manual chest compressions and conventional CPR. (2002)
  • Scientists who first discovered that knocking out a particular muscle gene results in "mighty mice" report that the procedure also softens the effects of a genetic mutation that causes muscular dystrophy. (2002)
  • Researchers unravel the mystery of how bilirubin, the molecule associated with better health if there's just a little more of it than normal, also can be the root of the yellow color in jaundice and, at high levels, can cause brain damage in newborns. (2002)
  • Building on previous work, researchers learn that even older children with a rare congenital disorder associated with epilepsy can end or reduce severe seizures through hemispherectomy, a procedure in which half the brain is removed, researchers find. (2002)
  • Researchers find that men infected with a combination of hepatitis B virus and HIV are 17 times more likely to die from liver disease than men infected with hepatitis B alone.(2002)
  • Scientists discover how a common cancer-causing gene controls the switch for tumor blood vessel growth known as angiogenesis, pinpointing a new target to squeeze off a tumor’s blood supply.(2002)
  • For the first time, scientists show that primitive fat cells must copy themselves at least twice before than can mature into full-fledged fat-storing cells, providing new targets for understanding and treating obesity.(2002)
  • Co-developed a new rat model of ALS (also called Lou Gehrig's disease), a discovery that should speed understanding of this neurodegenerative disorder and possible treatments (2002).
  • Developed a safe and reliable stool test based on a genetic marker that detects the earliest, curable stages of colon cancer (2002).
  • Showed for the first time that a single kind of cell in the retina seems to detect light both to set the body's internal "clock" and to bring vision to the brain (2002).
  • Discovered how tiny cells in the inner ear change sound into an electrical signal the brain can understand, a finding that could greatly improve the design of hearing aids and cochlear implants to restore hearing (2002).
  • Demonstrated that putting a dab of antibiotic ointment inside the nose of patients prevents at least half of all surgical wound and hospital-based infections caused by Staphylococcus aureus (2002).
  • Found what is believed to be the first solid evidence that genes in human pluripotent stem cells and their offspring work normally, a finding that adds hope that therapies using these cells will be safe and effective in humans (2002).
  • Demonstrated that interfering with the response to Hedgehog, a crucial signaling protein that tells other cells what to become during an embryo's development, may be useful in treating medulloblastoma, the most common brain cancer in children (2002).
  • Unraveled the complicated genetics of an inherited intestinal disorder called Hirschsprung's disease that is responsible for severe disability in 1 in 5,000 live births this opens the door to sorting out the genes responsible for a host of other multi-gene disorders (2002).
  • Developed the first biologic pacemaker for the heart, paving the way for a genetically engineered alternative to implanted electronic pacemakers (2002).
  • Co-discovered 170 genes involved in both Crohn's Disease and ulcerative colitis, a finding that led to the first genetic profile for these two inflammatory bowel diseases and to progress in developing new treatments for them (2001).
  • Discovered a novel method of genetically modifying allergy-causing agents such as ragweed, experiments that may lead to faster, safer and more effective vaccines for preventing and treating asthma and hay fever (2001).
  • Provided some of the first clear evidence that transplanted bone marrow stem cells can not only make new bone marrow, but also play a role in healing other tissues and organs (2001).
  • Helped discover the first gene directly involved in causing Crohn's disease, one of the two major bowel diseases affecting nearly 500,000 Americans (2001).
  • Successfully used a modified form of bone marrow transplants to treat sickle cell anemia in animals, adding support to human tests of the treatment under way (2001).
  • Led a team that discovered how precancerous moles progress to melanomas, the most deadly skin cancer, a finding that could serve as an early and simpler diagnostic test for the disease (2001).
  • Demonstrated that a special high-fat, low-carbohydrate diet cuts in half the number of seizures in 50 percent of children with severe seizure disorders, and allows many of these children to eliminate the use of anti-seizure drugs altogether (2001).
  • Demonstrated that a particular aquaporin (the protein that help regulate cells' balance of water) helps preserve the blood brain barrier but also contributes to brain swelling, opening new avenues of inquiry for treating potentially lethal brain swelling from injury and stroke (2001).
  • Identified a gene defect linked to interstitial lung disease, a common and dangerous disorder in premature infants (2001).
  • Identified a key enzyme in the brain that forms a hallmark of Alzheimer's disease (2000).
  • Used stem cell grafts to restore movement to limbs of paralyzed animals, a major advance in efforts to overcome paralysis in humans (2000).
  • Discovered that a genetic mutation linked to cystic fibrosis may also predispose people to sinus infections (2000).
  • Discovered a new family of genes that contributes to aggressive forms of childhood cancer, as well as cancers of the prostate, ovaries, lung and breast (2000).
  • Identified a compound called C75 that rapidly and temporarily turns off appetite and causes weight loss in test animals (2000).
  • Implicated a sexually transmitted virus called HPV in the development of cancers of the head and neck (2000).
  • Developed a new way of using mechanical ventilators to treat patients with severe lung injuries, dramatically reducing deaths among patients with acute respiratory distress syndrome (2000).
  • Developed a technology that makes it possible to detect accurately -- nearly 100 percent of the time -- genetic alterations linked to inherited diseases (2000).
  • Identified the molecular abnormality responsible for the sudden heart failure that strikes after open heart surgery, opening the door to prevention (2000).
  • Reduced vision loss in macular degeneration patients via photodynamic therapy and translocation surgery (1999).
  • Identified a new and unusual nerve transmitter, as well as its biological source, in the human brain -- work that promises to advance drug treatments for stroke (1999).
  • Identified a single gene variation that may explain key individual differences in pain sensitivity (1999).
  • Developed an inexpensive, safe and effective drug regimen for preventing HIV transmission from an infected mother to her newborn (1999).
  • Identified a drug that stops the growth of abnormal blood vessels in the eye, an advance that could have sight-saving implications for millions of people with blinding complications of diabetes (1999).
  • Discovered a genetic "switch" that can at least temporarily quiet firing nerve cells, a finding with implications for treating epilepsy, heart rhythm disturbances and severe pain (1999).
  • Isolated and cultivated human embryonic stem cells, the primordial cells which give rise to all body tissues (1998).
  • Discovered the genetic alteration linked to common forms of colon cancer in normal cells, potentially offering a means of predicting as many as 40 percent of new colon cancers before they actually begin (1998).
  • Identified genetic mutations heavily involved in more than half of all inherited cases of amyotrophic lateral sclerosis (ALS or Lou Gehrig's disease), speeding development of a diagnostic test (1998).
  • Discovered the gene that regulates other genes critical for normal photoreceptor development in the retina, and showed that mutations in this gene cause several human retinal diseases, including retinitis pigmentosa (1998).
  • Developed a test that spots adrenoleukodystrophy (ALD) carriers with 99 percent accuracy (1998).
  • Started testing gene therapy for early heart disease (1998).
  • Mapped the first major cancer gene to the X chromosome, thus explaining how prostate cancer can be passed through the mother (1998).
  • Provided first reliable evidence of genetic susceptibility to schizophrenia (1998).
  • Discovered the unique molecular defect that now can simplify diagnosis of polycythemia vera, the blood disorder first described by Sir William Osler (1998).
  • Confirmed with extensive evidence that a specific high-fat, low carbohydrate diet helps many children with epilepsy, especially those who do not respond to medicines (1998).
  • Confirmed a gene related to manic-depressive psychosis is located on chromosome 18 (1997).
  • Genetically engineered mice to grow herculean muscles, a finding with implications for treating muscular dystrophy and other muscle-wasting diseases (1997).
  • Mapped the first specific prostate cancer gene to chromosome 1 (1996).
  • Discovered the first inherited blood cell risk factor in platelets for "silent" heart disease in young adults (1996).
  • Developed an effective new treatment for brain tumors using biodegradable polymer implants (1996).
  • Identified a form of low blood pressure as the probable cause of chronic fatigue syndrome (1995).
  • Helped develop the first effective treatment for sickle cell anemia (1995).
  • Identified the gene that causes most forms of polycystic kidney disease, the most common inherited kidney disease (1995).
  • Developed a computer model that helps to predict how complicated proteins "fold," a technology that will help in recognizing the function of newly discovered genes (1995).
  • Identified a chemical in broccoli and other cruciferous vegetables, sulforaphane, that appears to inhibit the development of cancer and provides insight into wider investigations of chemical prevention of cancer (1993).
  • Identified a gene responsible for a widespread form of colon cancer (1993).
  • Isolated hypoxia-inducible factor 1 (HIF-1), a protein in all cells that regulates oxygen homeostasis and adaptation to oxygen deprivation, and plays a role in development of nutrient-supplying blood vessels necessary for tumor growth (1992).
  • Isolated the gene known as "Hedgehog," which carries the blueprint for a crucial signalling protein that tells other cells what to become during an embryo's development (1991).
  • Identified aquaporin, a protein that controls passage of water into and out of red blood cells and kidney cells, spawning research that now seems likely to impact treatment of brain swelling and certain lung and kidney diseases (1991). This discovery garnered a Nobel Prize in 2003 for the principal scientist.
  • Synthesized a new form of vitamin D, with possible future application as an anti-cancer drug (1990).
  • Induced apparently normal human brain cells to multiply in the test tube, opening the possibility that such cells could be used in treating neurological diseases (1990).
  • Discovered how the brain "hears" -- how bioelectrical signals from the inner ear to the brain are encoded -- findings with important implications not only for understanding the hearing process but also for how the brain operates (1989).
  • Identified the brain receptor for cocaine, a key step in developing potential treatments for cocaine addiction (1987).
  • Invented a pill-size ingestible electronic capsule to telemeter deep-body temperatures (1987).
  • Discovered that E. coli, a bacterium found in the human gastrointestinal tract, can repair its own DNA when damaged by ultraviolet light, thus providing a method for the investigation of DNA-repair proteins in molecular and cell biology (1987).
  • Discovered that Oltipraz, a compound found in cruciferous vegetables (cabbage, brussels sprouts, cauliflower), offers protection from the effects of radiation therapy (1983).
  • Discovered that pennies worth of vitamin A supplements administered to Indonesian children as part of a blindness prevention program were accompanied by a dramatic drop in infant death rates, leading to similar vitamin treatments for thousands of children in developing countries (1983 - 86).
  • Developed nerve-sparing radical prostatectomy surgery that allows men to main quality of life (1982).
  • Developed a heat-shrinkable polymer used as a sleeve, which took the place of sutures in vascular surgery (1981).
  • Identified a protein that controls assembly and disassembly of structures responsible for shape and movement of living cells, a major contribution to understanding fundamental mechanisms of cell motility, one of the most important problems in cell biology (1980).
  • Discovered that ketoacids as a substitute for dietary protein were useful in forestalling dialysis in kidney failure and in treating protein depletion or intolerance (1976).
  • Developed the first successful treatment to desensitize people against bee stings (1975).
  • Provided the first successful demonstration of the effect of a planned health education program in decreasing morbidity and mortality from a chronic disease (hypertension) (1975).
  • Invented the first microcomputer-controlled, implantable medication delivery system (1975).
  • Developed the first method for routinely visualizing the choroidal blood vessels of the eye (1973).
  • Identified the sites where heroin and other opiates act in the brain, a discovery that has important implications for the treatment of drug addicts and for the screening and development of new and potentially nonaddictive pain-killing drugs (1972).
  • Invented the first implantable, rechargeable pacemaker for cardiac disorders (1972).
  • Discovered restriction enzymes, the "biochemical scissors," and showed that they cut DNA at specific nucleotide sequences and could be used to analyze DNA, thus giving birth to the entire new field of genetic engineering (1969 - 70). The discoverers were awarded the Nobel Prize in 1978 for their achievement.
  • Developed the first clinically useful argon photocoagulator, providing ophthalmologists with a technique for repairing damaged retinal vasculature (1969).
  • Assigned the first gene -- the Duffy blood group -- to a specific chromosome, setting off worldwide interest in gene mapping (1968).
  • Described the structure and function of the complement system, a complex set of enzymes that play an important role in human immunological defenses against cancer, bacteria and viruses (1961).
  • Developed oral rehydration therapy, which replaces food and electrolytes lost from the body during diarrheal disease (1960s).
  • Developed CPR, cardiopulmonary resuscitation, the technique of closed-chest cardiac massage to keep inert or fibrillating hearts pumping blood (1958).
  • Linked a single gene defect to symptoms of Marfan syndrome (1957).
  • Showed that retrolental fibroplasia, which causes blindness in premature infants, was related to high concentrations of oxygen used in babies' incubators (1954).
  • Immunized chimpanzees with inactivated vaccines. This was essential to the development of the first widely used polio vaccine and a major step toward the prevention of poliomyelitis in human beings (1947-52).
  • Determined that rods, cones and cells contain a protein, melanopsin, that are the only light-detecting cells in the eye.
  • Found that the loss of a gene implicated in human cancers causes age- and gender-dependent cancers in mice, thus simulating the natural incidence of cancer in man for the first time.
  • Along with researchers at a biotech firm, uncovered the structure of the breast cancer receptor HER-2, the target of the breast cancer drug Herceptin.
  • Discovered that chemical alteration of a receptor for the brain chemical glutamate is a key step in storing spatial memories, creating a “forgetful” mouse and opening the door to new discoveries in memory loss.
  • Determined that a variant of a gene called “klotho” confers a substantial risk of having undetected atherosclerosis, in part explaining why people with two copies of the gene appear to be more likely to die young.
  • Shown that Interleukin-6, an immune system chemical, can improve the outcomes of rats receiving transplants of fatty livers, raising the possibility it might do the same for humans.
  • Developed a new theory of how HIV uses a cloak of human proteins to enter cells passively, suggesting new strategies for vaccines and other therapies.
  • Helped build and launch the first comprehensive online database of human proteins and their interactions, a major tool needed to advance the development of new therapies.
  • Discovered a protein called Sir2, found in nearly all living cells, that might help explain how calorie restriction can increase lifespan for some animals.
  • Determined that specialized pacemakers to recharge the weakened hearts of heart failure patients can halve the death rate from the disease and reduce hospitalizations nearly a third.
  • Demonstrated that male rats whose mothers were fed diets containing genistein, a chemical found in soybeans, developed abnormal reproductive organs and experienced sexual dysfunction as adults.
  • Found that a six-week, six-shot regimen of treatment for severe ragweed allergy appears to be effective and safe for more than one allergy season, reducing symptoms such as sneezing, runny nose and congestion, and nearly eliminating the need for antihistamines and decongestants.
  • Developed a way to predict with a simple blood test which people may be at higher than normal risk for the most common form of colon cancer.
  • Built on previous work to find that a group of rare urological birth defects, including bladder development outside the body, may be more common in children conceived through vitro infertilization (IVF), although these preliminary findings should not necessarily dissuade couples from considering the procedure.
  • Discovered a new way to grow human embryonic stem (ES) cells with the help of special cells from bone marrow, thereby offering an easily obtained and well-studied source of human cells to nurture the human ES cells, tempermental in the lab, as they divide.
  • Overcome years of frustrating searches for genes that contribute to mental illness by closely studying families with a severe form of manic depressive illness, called psychotic bipolar disorder, pinpointing a region of the genome where disease genes are likely to be found.
  • Discovered that a single genetic mistake causes about two-thirds of papillary thyroid cancers, a finding that may lead to new therapies that could counteract the mistake.
  • Brought immune-based therapies for cancer and other disorders closer to reality with development of an inexpensive, reliable way to make large quantities of targeted immune system cells by using artificial antigen presenting cells, or aAPCs.
  • Found that the mental side-effects of coronary artery bypass surgery, including a loss of ability to think, remember and learn, generally are reversible and last for no more than two or three months.
  • Completed perhaps the first systematic analysis of a disease-related gene family, the tyrosine kinase (TK) gene family, uncovering mutations linked to more than 30 percent of colon cancers, which could open the door to individualized analysis and treatment of colorectal cancer.
  • Identified three genes, long linked to a rare inherited disease known as Fanconi Anemia (FA), that appear to play a role in many cases of pancreatic cancer.
  • Released a five-year study showing that patients with severe emphysema who undergo lung volume reduction surgery (LVRS) along with medical management are more likely to function better and face no increased risk of death after two years, compared to those who get non-surgical treatment alone.
  • Reported that a study of  3,306 commuter plane pilots shows that a pilot’s experience is a better indication of crash risk than his or her age.
  • Found that pumping chilled fluid through a cadaveric kidney prior to the time it is transplanted can significantly improve the organ’s function after transplant surgery and improve its survival.
  • Determined that the most likely causes of brain damage among low birthweight infants are prematurity and infections, not oxygen starvation.
  • Identified an experimental medicine, a fused protein called VEGF- TRAPR1R2 , that stops the blinding blood vessel growth associated with diabetic eye diseases and possibly macular degeneration.
  • Completed a pilot study suggesting that performing cardiopulmonary resuscitation (CPR) while patients are on their stomachs offers far better restoration of blood flow and blood pressure than the standard practice of keeping patients on their backs.
  • Found that injecting human stem cells into the fluid around the spinal cords of 15 paralyzed rats clearly improved the animals’ ability to control their hind limbs by protecting existing nerve circuits.
  • Determined that people with impaired glucose tolerance (IGT), a precursor to diabetes, are at increased risk of dying from colon and other cancers.
  • Discovered that natural chemicals released in the body as a result of chronic inflammation may underpin the failure of low-fat, so-called heart healthy diets to actually reduce cholesterol and heart disease risk in some people.
  • Found that a protein called semaphorin-7a stimulates the growth of nerve cells’ tentacle-like axons, information that may help researchers learn how to rebuild nerves lost to spinal cord injuries or diseases such as Huntington’s.
  • Performed what is believed to be the world’s first “triple swap” kidney transplant operation, giving new leases on life to a woman from Florida, a woman from Pennsylvania and a child from Maryland by exchanging kidneys among six people.
  • Found that children who are allergic to peanuts could outgrow their allergy over time.
  • Determined that even in relatively impoverished neighborhoods, home ownership is linked to lower rates of emergency department usage for both emergency and general medical care.
  • Discovered that an experimental form of gene therapy employing the gene for insulin-like growth factor-1 (IGF-1) delays symptoms and nearly doubles life expectancy in mice with the equivalent of amyotrophic lateral sclerosis (ALS), or Lou Gehrig’s disease.
  • Found that older men’s sperm is more likely to contain specific disease-causing genetic mutations, including one linked to Apert syndrome, leading to webbed fingers and early fusion of the skull bones, which is more common in children born to older fathers.
  • Uncovered the first evidence that schizophrenia and bipolar disorder may have similar genetic roots, a reduced expression of the genes responsible for myelin development in brain cells known as oligodendrocytes. Myelin sheaths insulate nerve cells, enabling them to safely conduct electric signals between the brain and other parts of the body.
  • Demonstrated that a safe, simple and inexpensive treatment, one dose of nevirapine, a common HIV-fighting drug, both to HIV-positive mothers during labor and one dose to their newborns, reduces transmission of HIV from mothers to babies.
  • Found that a woman’s fitness level and the time it takes her heart to return to normal after exercise are more accurate predictors of female heart disease than electrical recordings of the heart.
  • Confirmed the lasting benefits of hemispherectomy, the dramatic operation in which half the brain is removed to relieve frequent, severe seizures that medications cannot control.
  • Discovered that nitric oxide (NO), the molecular messenger that contributes to body functions as wide-ranging as cell death, new blood vessel growth and erections, can block blood vessel inflammation and prevent clotting, a process that long stumped biologists.
  • Uncovered a key step in the body’s regulation of melatonin, a major sleep-related chemical in the brain: a light-induced disappearance of melatonin that plagues shift-workers and jet airliner passengers by prompting sleeplessness.
  • Found the existence of specific short repeats of particular genetic building blocks in a gene at the root of cystic fibrosis, revealing how the repetitious pattern may help predict the disease’s severity.
  • Conducted a genome-wide analysis of 1,875 people in 585 families, linking a region of chromosome 1 containing more than 200 known genes to blood pressure.
  • Reported that the amount of cholesterol found in skin cells may be a good indicator of the presence of plaque building in the heart.
  • Found during studies at the Wilmer Eye Institute that if every American at risk for advanced age-related macular degeneration (AMD) took daily supplements of antoxidant vitamins and zinc, more than 300,000 people could avoid AMD-associated vision loss over the next five years.
  • Compiled a study suggesting that coupling the insertion of stents with injections of clot-busting tissue plasminogen activator (tPA) directly into blocked blood vessels serving the brain is an effective way to either prevent or limit the damage from some strokes.
  • Identified a rare stem cell likely to be responsible for the development of multiple myeloma, a cancer of the bone marrow that destroys bone tissue, suggesting that therapies designed for long-term cure of the disease should target this stem cell.
  • Found that the popular low-carbohydrate, high-fat Atkins diet may also have a role in preventing seizures in children with epilepsy.
  • Discovered the first direct evidence in mammals that a chemical intermediate in the production of fatty acids, malonyl-CoA, is a key regulator of appetite.
  • Linked versions of two different genes with the inflammatory bowel illnesses known as Crohn’s disease and ulcerative colitis, a crucial step in development of new treatments and prevention strategies for these disabling conditions.

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