Recent Advances

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Timeline: Recent Advances


  • The discovery of cancer stem cells in colorectal cancer, carrying proteins that help make the cancers drug resistant. The finding adds to previous studies of similar cells in melanoma, and suggests that cancers can be treated by targeting cancer stem cells.
  • A new, long-acting local anesthetic, developed at Children’s with collaborators in Chile, is found to effectively block pain and speed recovery in surgical patients.
  • Discovery of new mechanisms for lowering blood sugarin diabetic mice that may allow diabetes to be treated without insulin. (Read more in this blog post.)
  • Sickle cell disease is corrected in mice by turning off a single gene and restoring red blood cells' ability to produce a fetal form of hemoglobin. This approach may be the key to treating other anemias and other blood disorderssuch as beta thalassemia.
  • Researchers identify a previously unknown asthma pathway, explaining why influenza induces asthma attacksand suggesting a way to protect asthmatic patients from flu-induced exacerbations. The study also suggests that there may be different types of asthma that can be treated through a personalized medicine approach.
  • A new type of pneumococcal vaccine, capable of covering any pneumococcal strain and potentially much cheaper to produce than the current vaccine, is found to be protective in mice.
  • A handheld scanning devicedeveloped by Children’s ophthalmologists is found in tests to identify “lazy eye” during the preschool years when it’s most treatable. The device is now undergoing field-testing by pediatricians.
  • Developers release MedWatcher,an iPhone application for real-time, crowdsourced drug safety surveillance, allowing the physicians and the public to easily report adverse drug events and view reports submitted by others.
  • A continuous quality-improvement program called SCAMPS (Standardizing Clinical Assessment and Management Plans) launches hospital-wide, with the aim of providing the best, most cost-effective care by using individual patient data to inform and continuously revise practice.
  • Working with zebrafish, researchers discover that a number of existing drugs may help restore muscle in Duchenne muscular dystrophy. Children’s is now partnering with Pfizer Inc. to develop the most promising compounds as treatments.
  • Researchers develop the beginnings of a noninvasive test to evaluate an infant's autism risk, combining standard electroencephalograms(EEGs) with machine-learning algorithms. In a pilot study, the test had 80 percent accuracy in distinguishing between 9-month-old infants known to be at high risk for autism from controls of the same age.
  • A Children’s-MIT team offers two alternative ways to strengthen weakened, scarred heart tissue — both involving nanotechnology. One approach involves a heart patch laced with gold wires that enhance electrical conduction; the other involves minute particles that find their way to dying heart tissue, carrying stem cells, growth factors, drugs and other therapeutic compounds.
  • Researchers review why and how early-life seizures disrupt normal brain development, and show in a rat model that it might be possible to reverse this pathology by giving an existing drug soon after the seizure.
  • A two-drug combination is found to alleviate radiation sicknesscaused by exposure to high levels of radiation, even when the therapy is started a day after the exposure.
  • Researchers reverse anemia in mice by inducing them to grow blood vessels that secrete the drug erythropoietin into the bloodstream. The technology could enable patients requiring protein-based drugs to avoid frequent injections or IV treatments.
  • Researchers map the “translocatome”– spots in the genome where chromosomes are likely to rejoin after breaking. This knowledge could help guide understanding of cancer genomics and efforts to develop gene therapies.
  • A two-pronged molecular therapy leads to significant recovery of skilled motor functionin a rat model of stroke.
  • Using a zebrafish model of human melanomas, scientists identify a new oncogene underlying the cancer and demonstrate therapeutic promise in adding an existing arthritis drug to another melanoma drug currently under study.
  • Researchers show that mixed lineage leukemia (MLL), a group of difficult-to-treat childhood leukemias, relies on epigenetic changes to grow and survive,and demonstrate that a new drug that blocks these changes can halt cancer growth in mice.


  • An experimental drug decreases size and number of cysts in an animal model ofpolycystic kidney disease.
  • Studies of autismvalidatea chromosomal microarray-based test as a potential first-line genetic test, with about three times the detection rate of the current standard tests, and provide strong evidence that autism spectrum disorders are brain “connectivity” disorders.A clinical triallaunches for Rett syndrome, the leading known genetic cause of autism in girls, marking the beginning of a trendtoward drug treatments seeking to modify the underlying causes of autism spectrum disorders.
  • Discovery thatlow production of serotonin in the brainstem predisposes babies to sudden infant death syndrome.
  • Overcoming early setbacksin gene therapy, Children’s launches an international gene therapy trial for "Bubble Boy" Syndromeand enters a partnership to start a gene-therapy trial for Wiskott Aldrich Syndrome, a rare blood disease. (Read more in this blog post.)
  • Researchers for the first time induce robust nerve regeneration in injured spinal cord sitesthat control voluntary movement, providing hope for future therapies for paralysis and impaired motor function arising from spinal cord injury. A separate team reports achieving the greatest regeneration to date in the mammalian optic nerve.
  • New methods are developed for creating and differentiating human pluripotent stem (iPS) cells, one using a novel RNA-based technology, avoiding the need to introduce viruses into the cells or irreversibly alter their genetic makeup, and another that creates iPS cells from adult blood cells, avoiding the need for an invasive skin biopsy. Both techniques are likely to facilitate the creation of patient-specific embryonic-like stem cells for treatment.
  • Advancing a “personalized medicine” approach to cancer, researchers identify six subtypes of medulloblastoma, the most common malignant brain tumor of childhood. Knowledge of these subtypes, with distinct molecular "fingerprints," isstarting to guide individualized treatment in the clinic.
  • Researchers discover a previously unknown mechanism that promotes a rapid response to viral infection, involving cellular organelles called peroxisomes that detect an invading virus and launch a limited offensive, and a more definitive counterattack by mitochondria.
  • Studies reveal a possible new strategy for killing off chemotherapy-resistant leukemia stem cells in acute myelogenous leukemia, and preventing them from initiating a relapse.


  • The detection of early signs of autismin infants, and patterns of brain activity that might allow it to be diagnosed as early as 6-12 months.
  • Discovery of a biomarker detectable in urine that predicts a breast tumor’s transition to a metastatic state, potentially providing a non-invasive diagnostic test and treatment target.
  • Development of a protein-based urine test for appendicitis.
  • Discovery of a potent metastasis inhibitor, potentially making cancer less deadly.
  • Identification of a growth factor that enhances heart regeneration and improves heart function, reversing heart attack damage in micewhen injected.
  • A drug that boosts production of blood stem cells – originally discovered in zebrafish – goes to clinical trial, helping patients recover from bone marrow transplant with less need for cord blood.
  • Demonstration that a heart valve implanted via cathetercan safely improve heart function, potentially avoiding the need for repeated open-heart operations.
  • Genetic defects underlying the devastating kidney disease focal segmental glomerulosclerosis (FSGS) are discovered, solving the mystery of what causes the disease. A diagnostic testfor the gene is now on the market.
  • A new iPhone application, Outbreaks Near Me, enables users to track and report outbreaks of infectious diseases in their area in real time.
  • Lin28, a protein abundant in embryonic stem cells, is shown to be important in cancer, and offers a possible new target for drug development.An epidemiologic study demonstrates that rapid weight gain during the first 6 months of life may place a child at risk for later obesity.


  • An international consortium led by Dr. Joel Hirschhorn of Children's Divisions of Genetics and Endocrinology, and collaborators in the US and UK, has made significant headway, discovering six new genetic variants linked with body mass index in the general population. Most are active in the brain, suggesting that differences in appetite regulation may play a role in obesity. 
  • Researchers in the Division of Hematology/Oncology find a way to greatly ease the severity of life-threatening anemias, such as sickle-cell disease and beta-thalassemia, by reawakening red blood cells' ability to produce a fetal form of hemoglobin (HbF) that can compensate for the lack of functional adult hemoglobin. After first identifying five genetic variants that influence HbF levels, they homed in on a gene called BLC11A that suppresses HbF production -- and which could potentially be targeted in future therapies. 
  • Neurobiology researchers at Children's successfully get damaged nerves to recover and regrow in a mouse model, by temporarily silencing genes that normally prevent regeneration from occurring. The findings suggest that targeting these natural growth inhibitors may make it possible to regrow nerves damaged by brain or spinal cord injury, which normally do not regenerate. 
  • A study led by Dr. Scott Armstrong of Children's Division of Hematology/Oncology discovers a small but potent epigenetic change -- a change in gene activation -- that launches a hard-to-treat form of acute lymphoblastic leukemia. As a result of a mutation, an enzyme call DOT1L abnormally modifies DNA "scaffolding" proteins, altering chromosome structure and activating genes that are normally silent. Because enzymes are relatively easy to target, Armstrong's team is now searching for inhibitory drug. 
  • Neuroscientists at Children's identify the first known "master switch" in brain cells to orchestrate the formation and maintenance of inhibitory synapses, essential for proper brain function. The factor, called Npas4, regulates more than 200 genes that act in various ways to calm down over-excited cells, restoring a balance that is thought to go askew in some neurologic disorders, such as epilepsy, autism and schizophrenia. 
  • Discovery of a new, previously unknown mechanism of immunity suggests there may be a better way to protect vulnerable children and adults against Streptococcus pneumoniae (pneumococcal) infection, which can causes serious cases of pneumonia and meningitis. With collaborators, researchers in Children's Division of Infectious diseases identify a group of T-cells, known as TH17 cells, that target pneumococci in the nose, preventing colonization. Dr. Richard Malley, who led the study, is developing an inexpensive whole-cell pneumococcal vaccine that elicits a robust TH17 response in mice. 
  • Building on the creation, in 2007, of induced pluripotent stem cells (iPS) -- cells that look and act like embryonic stem cell -- Children's Stem Cell program goes on to produce 10 iPS cell lines carrying the genes or genetic components for 10 different diseases, including Parkinson's Disease, Type I diabetes, Huntington's Disease, Down Syndrome, a form of combined immunodeficiency ("Bubble Boy's Disease"), Lesch-Nyhan syndrome, Gaucher's Disease, and two forms of Muscular Dystrophy, among others. The cells, to be deposited in a shared "core" facility, promise to be a valuable tool for studying the root causes of disease.
  • Researchers led by Dr. Takao Hensch in Children's Neurobiology program describe a factor that can trigger the brain's ability to learn. The factor, called Otx2, helps a key type of cell in the cortex to mature, initiating a critical period--a window of heightened brain plasticity, when the brain can readily make new connections. The work was done in a mouse model of the visual system, but the researchers believe Otx2 may have counterparts in the auditory, olfactory and other sensory systems that help time critical periods, so that the brain sets up its circuits when it's getting the optimal sensory input.


  • The laboratory of Dr. George Daley of Boston Children's Hospital's stem cell program converts skin cells from an adult into cells that look and act like embryonic stem cells. The resulting cell lines, called induced pluripotent stem cells (iPS), can potentially form any cell type in the body, and are allowing Children's scientists to model a variety of human diseases. 
  • Researchers from the Program in Genomics link microRNAs--tiny bits of code that regulate gene activity-- to 10 major degenerative muscular disorders. Since the initial causative mutations don't fully explain why patients lose functional muscle so quickly, the discovery will potentially open doors to new treatments and a better biological understanding of these debilitating, poorly understood diseases.
  • Gene-chip studies of umbilical-cord tissue yield new leads into predicting and treating bronchopulmonary dysplasia, a chronic lung disease affecting premature newborns. The study, from the Children's Hospital Informatics Program, found alterations in a biochemical pathway that's also disrupted in adult chronic obstructive pulmonary disease -- and for which drugs have already been developed. It is one of the first uses of gene-chip (microarray) analysis to study diseases of premature infants, and shows the value of analyzing multiple genes simultaneously to detect alternation of an entire pathway, rather than a single gene. 
  • A study led by Dr. David Ludwig, director of Children's obesity program, demonstrates that diets rich in rapidly-digested carbohydrates not only expand waistlines, but may also cause fatty liver, a condition that can lead to liver failure and death. These findings, in animals, are now being tested in a clinical trial, and suggest that fatty liver disease -- on the upsurge among Americans as a byproduct of the obesity epidemic -- may be preventable and treatable through dietary changes.
  • Dossia, a non-profit consortium of large employers, partners with the Children's Hospital Informatics Program -- a pioneer in developing and promoting personally-controlled health records -- to provide personal, portable and secure medical records for its employees, their dependents and retirees. 
  • Cardiac surgeons Drs. Virna Sales and John Mayer create living, growing heart valves using tissue engineering techniques in an animal model. Their work raises the possibility that children with congenital heart disease could receive replacement valves and other heart structures that grow with them, eliminating the need for repeat operations. 
  • Researchers led by Dr. Bernhard Kuhn demonstrate a way to get injured heart tissue to regrow and regain pumping ability. In an animal model, Kuhn and colleagues used a naturally-occurring compound called periostin to stimulate growth pathways that are normally switched off in heart cells after embryonic development.
  • Dr. Morris White and colleagues show that reducing insulin signaling specifically in the brain can prolong lifespan in mammals, providing a molecular explanation for the value of exercise and eating in moderation. Mice whose insulin signaling was reduced only in the brain lived longer and were more active in old age, retaining youthful metabolic cycles and protective levels of anti-oxidant enzymes.
  • Dr. Lois Smith and colleagues show that increasing intake of omega-3 fatty acids, found in popular fish-oil supplements, may protect against blindness resulting from abnormal blood vessel growth in the eye. In an animal model of retinopathy, a mere 2 percent change in dietary omega-3 intake was sufficient to decrease disease severity by 50 percent.
  • High-volume drug screening in zebrafish reveals a new way to increase stem cells in blood, suggesting a possible treatment to help patients recover immune function more quickly after chemotherapy or bone marrow transplant. Dr. Leonard Zon and colleagues show that a stable analog of prostaglandin can enhance the blood-forming system - the first induction of stem-cell production by a small-molecule drug. 
  • Dr. Stuart Orkin and colleagues show that difficult-to-treat myeloproliferative syndromes, which can progress to leukemia, are rooted not in errant blood stem cells, as previously thought, but in the cells' surrounding environment. The new understanding helps explain why normal blood stem cells transplanted into patients with myeloproliferative syndromes sometimes become diseased themselves, and may pave the way to novel therapies.
  • Dr. Deborah Waber and colleagues report the first data to emerge from the National Institutes of Health MRI Study of Normal Brain Development, a large, population-based study begun in 1999. The findings offer a first glimpse at the effects of gender, age and income on cognitive performance in a broad population of healthy children, and provide a comprehensive reference for future research and clinical practice.
  • A team led by Dr. Gabriel Corfas provides the best evidence to date that defects in the brain's white matter are a key contributor to schizophrenia, showing that two of the dozen or more genes previously linked with schizophrenia - neuregulin 1 and erbB4 - induce pathologic changes in the white matter that unbalance the dopamine system. The new understanding of schizophrenia raises the possibility of early diagnosis and perhaps preventive treatment.
  • Dr. David Fisher finds that the cancer-suppressing protein p53 is doubly protective when it comes to melanoma: it not only guards against cancer-causing DNA damage from the sun, but also kick-starts the tanning process, spurring production of skin-darkening melanin. The discovery might someday be applied to help prevent skin cancer, even in people unable to tan well. 


  • Children's opens a state-of-the-artProteomics Center, enabling researchers and clinicians to conduct large-scale, systematic studies of proteins and protein actions and interactions in the body.
  • Michael Greenberg, PhD, and colleagues demonstrate that newly-recognized genetic elements called microRNAs, which suppress gene activity, have a role in the developing nervous system. They show that one microRNA fine-tunes the development of synapses, the points of communication between brain cells that underlie learning and memory.
  • Dale Umetsu, MD, PhD, Omid Akbari, PhD, and colleagues report that a newly recognized type of immune cell, NKT, may play an important role in causing asthma, even in the absence of conventional T-helper cells. Moreover, NKT cells respond to a different class of antigens than are currently recognized to trigger asthma.
  • A report in The Lancet describes good outcomes in seven children with spina bifida who received laboratory-grown bladders, the first complete tissue-engineered organs to be implanted in human patients.
  • Dr. Larry Benowitz, PhD, and colleagues discover a naturally occurring growth factor called oncomodulin that stimulates regeneration in injured optic nerves, raising the possibility of treating blindness due to optic-nerve damage and the hope of achieving similar regeneration in the spinal cord and brain.


gp120, a protein on HIV's surface that binds to a cell's CD4 receptor.

  • Stephen Harrison, PhD, and colleagues show how a key part of thehuman immunodeficiency virus (HIV) changes shape, triggering other changes that allow the AIDS virus to enter and infect cells. The findings offer clues that could lead to new vaccine and treatment approaches.
  • Richard Malley, MD, and colleagues discover that natural protection against Streptococcus pneumoniae infection occurs through an immune mechanism that may be independent of the current Prevnar vaccine. This mechanism, once better understood, could possibly exploited for an improved, more broadly protective whole-cell vaccine.
  • Marco Ramoni, PhD, and collaborators create a novel method for predicting stroke risk in patients with sickle cell anemia, by combining large-scale genetic analysis with Bayesian networks, a method of "mining" information that combines artificial intelligence and statistics. The model shows that genetic differences in 12 genes interact with fetal hemoglobin level to modulate the risk of stroke, with an overall predictive accuracy of 98 percent.
  • In the best-documented effort to date, Felix Engel, PhD, and Mark Keating, MD, successfully get adult heart-muscle cells to divide and multiply in mammals, the first step in regenerating heart tissue. They are now investigating whether their technique can improve heart function in animal models of cardiac injury.
  • Raif Geha, MD, discovers a gene mutation that accounts for many cases of immune deficiency, in particular two syndromes known as immunoglobulin A (IgA) deficiency and Common Variable Immunodeficiency (CVID) that make people highly susceptible to infections. The finding is expected to yield a new diagnostic test for these conditions, which often go unrecognized.


  • Jane Newburger, MD, MPH, receives a $20 million grant from the National Heart Lung and Blood Institute to study tetralogy of Fallot and speed up the process of translating research into clinical care.
  • Bruce Yankner, MD, PhD, and colleagues uncover a pattern of gene activity in the aging human brain that may contribute to age-related cognitive decline.The findings indicate the possibility of preserving brain function by preventing damage to these critical genes.
  • Frances Jensen, MD, and colleagues show that an existing drug, topiramate, may protect newborns from brain injury and long-term neurologic problems caused by excitotoxicity, or over-activation of neurons. The findings have implication for the prevention of cerebral palsy and epilepsy.
  • Stem cell researcher George Daley, MD, PhD, is awarded one of the nine inaugural Pioneer Awards from the National Institutes of Health. The award aids scientists who were deemed to have the potential to make major breakthroughs in the improvement of human health.
  • Children's receives more than $10 million from the National Institutes of Health to study a potentially life-threatening complication of smallpox immunization known as eczema vaccinatum (EV). The goal is to reduce the risk of EV and develop a safer smallpox vaccine.
  • Children's launches a multidisciplinary study of autism that will seek to define its genetic and biochemical causes. The study, involving the Developmental Medicine Center, the Program in Genomics, the Program in Neurobiology, and the Children's Hospital Informatics Program (CHIP), is expected to yield greater biological understanding of autistic spectrum disorders, better diagnostic and prognostic techniques, and possibly new treatments.


  • Fred Alt, PhD, and colleagues discover the disruption of a gene known as H2AX can disrupt the machinery that senses and fixes broken DNA, thereby setting the stage for cancer to develop. In mice, loss of H2AX led to an increase in lymphomas and solid tumors because errors in the genetic code were not always repaired correctly. The finding has implications for understanding the origin of human cancers, since a large number of human tumors contain alterations in the region of chromosome 11 where the H2AX gene is located.
  • Leonard Zon, MD, and colleagues isolate a gene responsible for making blood stem cells. The gene, called cdx4, establishes the location of blood cell formation in the developing embryo by altering the expression of HOX genes, which are involved in making the body plan. The discovery could lead to a method for growing blood stem cells in the laboratory for patients with severe congenital anemias or those needing bone marrow transplants for cancer.
  • Researchers at Children's, Brigham and Women's Hospital, Harvard Medical School, and the University of Massachusetts Medical School discover a specific receptor on cells that opens the door to the SARS virus, allowing the virus to bind, enter and replicate. Researchers hope this will be a major advance in the diagnosis and treatment of SARS.
  • George Daley, MD, PhD, and colleagues report creating a continuously growing line of embryonic germ cells, primitive cells that mature to become sperm or eggs. They also created male reproductive cells capable of fertilizing an egg to form an early embryo. These achievements may lead to a better understanding how reproductive cells form, and ways of 'reprogramming' specialized cells to become more like embryonic stem cells.


  • Scott Pomeroy, MD, PhD, and Todd Golub, MD, use microarray gene expression profiling to identify different types of brain tumors and predict clinical outcomes. This allows radiation and chemotherapy to be tailored to kill cancer cells while leaving healthy tissue alone.
  • Children's endocrinologists David Ludwig, MD, PhD, and Mark Pereira, PhD, MPH, describe dietary factors that influence glucose metabolism and insulin regulation and contribute to Type 2 diabetes.
  • Children's is recognized by the National Association of Children's Hospitals and the American Academy of Pediatrics as a national model in terrorism preparedness. The following year, it is awarded $700,000 by the Agency for Healthcare Research and Quality to establish the Center for Biopreparedness, which is developing best-practice management techniques for biological, chemical or radiation events affecting children and their caregivers.


  • Sara Vargas, MD, and Antonio Perez-Atayde, MD, identify an aggressive new type of cancer that affects the upper respiratory tract in young patients.
  • Louis Kunkel, PhD, and colleagues from Beth Israel Deaconess Medical Center identify a region on chromosome 4 that is associated with exceptionally long life. Individuals with these special genes live healthy lives beyond 100 years.
  • Children's clinicians care for a patient with life-threatening heart disease, making him the world's first hemophiliac to be placed on extracorporeal membrane oxygenation and only the second to undergo a heart transplant.
  • Lois Smith, MD, PhD, demonstrates that insulin-like growth factor 1 is critical to blood vessel growth in the eye. She also finds that retinopathy of prematurity, a disease that can cause blindness in premature infants, may be due to the loss of IFG-1 from the amniotic fluid when babies are born weeks early.
  • Children's opens the nation's first pediatric palliative care inpatient room in a hospital, which allows families of terminally ill children to stay together in a homelike setting while the child receives end-of-life care.


  • Timothy Browder, MD, demonstrates in mice that lower, more frequent doses of chemotherapy target the endothelial cells that line the vascular bed of a tumor, showing that chemotherapy can be anti-angiogenic.
  • Craig Gerard, MD, PhD, identifies a candidate receptor responsible for many symptoms of bronchial asthma, a finding that could lead to the development of medications that inhibit the secretion of mucus that causes broncho-constriction.
We are grateful to have been ranked #1 on U.S. News & World Report's list of the best children's hospitals in the nation for the third year in a row, an honor we could not have achieved without the patients and families who inspire us to do our very best for them. Thanks to you, Boston Children's is a place where we can write the greatest children's stories ever told.”
- Sandra L. Fenwick, President and CEO

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