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Scientific Highlights at NICHD

  • Development of gene therapy with small molecule treatment that prevents Menkes disease in a mouse model, and discovery of a new cause of human distal motor neuropathy.
  • Identification of an anti-HIV activity of THE antiherpetic drug, acyclovir(ACV), that in the presence of herpesviruses (HHVs)inhibits HIV-1 reverse transcriptase in human tissues ex vivo, including cervico-vaginal tissue. Launching of clinical trials to test this phenomenon in vivo. Developing a new ACV-based HIV inhibitor and testing it in ex vivo human tissues.
  • Successful placentation requires tolerance to the fetal semi-allograph. Villitis of unknown etiology is a destructive inflammatory lesion of the placenta frequently observed in complications of pregnancy. Studies of the placental transcriptome, as well as the fetal and maternal immune response, suggest that this lesion represents a unique state combining maternal allograph rejection and maternal anti-fetal graph versus host disease.
  • We have determined, for the first time, that a subset of fetuses undergoing rapid growth at an increased risk for spontaneous preterm delivery and that such births tend to be “late preterm birth” (34-36 weeks). These observations link fetal growth with spontaneous preterm parturition.
  • Clinical studies elucidating the impact of obesity-associated polymorphisms of the melanocortin-3 receptor on children’s energy intake and energy expenditure.
  • Demonstration of the limited efficacy of dietary calcium supplementation for adult weight gain prevention in a large randomized controlled trial.
  • Using a non-invasive method to obtain fetal cells that migrate into the cervical canal during the first trimester, we were able to distinguish normal intrauterine pregnancies from ectopic pregnancy and blighted ovum pregnancy based on the abundance of fetal cells determined using an antibody against a trophoblast-specific marker protein. With refinement of single cell detection methods, this approach could be used for more sophisticated types of prenatal diagnosis.
  • Further elucidation of the protective mechanism providing GnRH antagonist ovarian protection after treatment with cyclophosphamide.
  • Specificity of screening tests for Cushing’s syndrome in an overweight and obese population.
  • We proposed that about up to 28 percent of pheos and paragangliomas have genetic background.
  • For the first time we showed that about more than half of these tumors in children and adolescents have familial tumors most commonly related to SDHB gene mutation.
  • Identification of an important role for Lim domain binding protein-1 (Ldb-1) in regulating a transcriptional network essential for hematopoietic stem cell maintenance.
  • Discovery of a previously uncharacterized mechanism of vessel growth modulation by lipoprotein availability, exerted through up- or down-regulation of the VEGFR1 “decoy” receptor for vascular endothelial growth factor.
  • Determined how the concentrations of odors are encoded by populations of olfactory sensory neurons, and how the responses of these neurons drive the synchronous coordination of their downstream follower neurons.
  • Identified the metabotropic glutamate receptor, mGluR7, as a critical presynaptic protein controlling the availability of downstream second messenger cascades involved in long lasting depression and long term potentiation.
  • Characterization of the biophysical and signaling properties of native and recombinant channels cloned from the pituitary gland.
  • Further elucidation of the role of iron misregulation in the neurodegenerative disease of mice that lack iron regulatory protein 2, and development of a treatment that activates a duplicated gene to restore normal iron homeostasis.
  • Demonstration of a specific role for the AP-4 complex in the trafficking and processing of the Alzheimer’s Disease (AD) amyloid precursor protein (APP). This role involves a novel type of signal-adaptor interaction that targets APP to the endosomal system, thereby diminishing production of the pathogenic amyloid-beta peptide. Thus, defects in AP-4 should be considered a risk factor for AD.
  • Discovery that the ubiquitin tag, once thought to be a one-way ticket to the proteasome, can also, in concert with the p62 protein, efficiently ship proteins and other targets (including large protein aggregates and entire organelles) to the autophagosome. The work has implications for our understanding of neurodegenerative diseases characterized by the accumulation of cellular debris.
  • Discovery of large numbers of small (< 50 amino acids), hydrophobic proteins encoded by bacterial genomes, some of which are repressed by an antisense RNA and are toxic at high levels.
  • Demonstration that TGF-beta/Activin signaling plays a key role in coordinating mutual synaptogenesis between photoreceptors and their target neurons in the developing Drosophila brain.
  • Identification of the mechanisms controlling pulsatile gonadotropin-releasing hormone (GnRH) release from hypothalamic neurons, which depend on neuronal electrical activity, calcium and cAMP signaling, a GnRH receptor autocrine component, a GnRH concentration-dependent switch in its receptor coupling to specific G proteins, expression of G protein-coupled receptors and steroid receptors, as well as homologous and heterologous interactions between GnRH neuronal cell membrane receptors. These multiple regulatory mechanisms for pulsatile GnRH secretion provide a high degree of redundancy in maintaining this crucial component of the mammalian reproductive process.
  • The CLOCK circadian system regulates target tissue glucocorticoid action, functioning as a negative closed loop regulator for diurnal fluctuation of circulating glucocorticoids.
  • A comprehensive SAGE database for transcript discovery on male germ cell development.
  • Comparative studies of child temperament interaction among Latin American, Japanese American, and European American mother-child dyads identified realms of child growth, parenting, and family function that call for special attention and cultural sensitivity in the dynamics of immigrant families.

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