Johns Hopkins Medicine Research Highlights

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. 

In 2003, our scientists have:

• 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.

1952-2002
Johns Hopkins Medicine scientists have:

• Co-developed an improved rat model of 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 Hirsch-sprung disease that is responsible for severe disability in 1 in 5,000 live births, a feat that 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 half 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 proteins 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 C57 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 rapidly to advance drug treatments for stroke (1999).
• Identified a single gene variation that may explain some of the 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 from which human life is formed (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 cases of amyotrophic lateral sclerosis (ALS or Lou Gehrig's disease), speeding development of a diagnostic test and earlier treatments (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 long-term evidence that a 70-year-old unconventional 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 that appears to inhibit the development 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).
• 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), offered 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, 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).