Designing a Liberal Arts Curriculum that Develops the Capacity for Effective Practice

A new agenda has been coalescing for residential liberal arts education in the United States. At its core are various forms of experiential learning that had long been relegated to the margins of institutions in which pure intellectual achievement was largely separated from, and prized above, practical application of knowledge. Recent years have brought growing student interest in opportunities to engage in experiential learning, including community service, internships, student-faculty research partnerships, study abroad, or co-operative education. All types of colleges and universities have been investing in these programs and in curricular modifications intended to begin integrating them into a coherent educational program. With support from several major associations, foundations, and research collaborations, this twenty-first century reframing of the aims of education has included a persistent call for better evaluative data to gauge the extent to which college students are actually meeting learning goals that faculty are being encouraged to specify more fully

Designing a Liberal Arts Curriculum that Develops the Capacity for Effective Practice

A new agenda has been coalescing for residential liberal arts education in the United States. At its core are various forms of experiential learning that had long been relegated to the margins of institutions in which pure intellectual achievement was largely separated from, and prized above, practical application of knowledge. Recent years have brought growing student interest in opportunities to engage in experiential learning, including community service, internships, student-faculty research partnerships, study abroad, or co-operative education. All types of colleges and universities have been investing in these programs and in curricular modifications intended to begin integrating them into a coherent educational program. With support from several major associations, foundations, and research collaborations, this twenty-first century reframing of the aims of education has included a persistent call for better evaluative data to gauge the extent to which college students are actually meeting learning goals that faculty are being encouraged to specify more fully

Exome sequencing and human disease: the molecular characterisation of genetic disorders

Since the completion of the human genome project in 2001, the field of genomics has advanced exponentially, largely due in part to the introduction of next generation sequencing (NGS); a technique that has revolutionised the ways in which genetic disease is investigated. NGS enables the simultaneous sequencing of multiple reads in parallel, which provides researchers with the opportunity to interrogate vast numbers of candidate genes in order to establish the genetic eitiology and key components of disease. Exome sequencing in particular offers an efficient method to investigate disease, as the exomic regions make up 1% of the whole genome, but can contain up to 85% of functional variants responsible for disease. Next generation sequencing has been employed to investigate and identify the genetic cause of Acrocallosal syndrome (a rare autosomal recessive disorder). Exome sequencing was then also applied to investigate the genetic associations with both familial and sporadic pheochromocytomas and paragangliomas (neuroendocrine tumours). This study describes the various applications, challenges and potential benefits that can be achieved by using exome sequencing as a tool to investigate rare autosomal recessive disorders in addition to more complex disorders including familial and sporadic cancer. This study aims to employ cutting edge technology to investigate human disease, in order to enhance current understandings of disease biology and pathogenesis. Through this, it is hoped that these findings may help to contribute to on-going efforts to develop novel therapeutic strategies and improve the clinical management of these disorders

Neutrophils promote CXCR3-dependent itch in the development of atopic dermatitis.

Chronic itch remains a highly prevalent disorder with limited treatment options. Most chronic itch diseases are thought to be driven by both the nervous and immune systems, but the fundamental molecular and cellular interactions that trigger the development of itch and the acute-to-chronic itch transition remain unknown. Here, we show that skin-infiltrating neutrophils are key initiators of itch in atopic dermatitis, the most prevalent chronic itch disorder. Neutrophil depletion significantly attenuated itch-evoked scratching in a mouse model of atopic dermatitis. Neutrophils were also required for several key hallmarks of chronic itch, including skin hyperinnervation, enhanced expression of itch signaling molecules, and upregulation of inflammatory cytokines, activity-induced genes, and markers of neuropathic itch. Finally, we demonstrate that neutrophils are required for induction of CXCL10, a ligand of the CXCR3 receptor that promotes itch via activation of sensory neurons, and we find that that CXCR3 antagonism attenuates chronic itch

Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in HPDL.

A subset of individuals diagnosed with cerebral palsy will have an underlying genetic diagnosis. Previously, a missense variant in GAD1 was described as a candidate mutation in a single family diagnosed with autosomal recessive spastic cerebral palsy-1 (CPSQ1; OMIM 603513). Following the ascertainment of a further branch of the CPSQ1 kindred, we found that the previously reported GAD1 variant did not segregate with the neurological disease phenotype in the recently ascertained branch of the kindred. Following genetic linkage studies to map autozygous regions and whole-exome sequencing, a missense variant (c.527 T > C; p. Leu176Pro, rs773333490) in the HPDL gene was detected and found to segregate with disease status in both branches of the kindred. HPDL encodes a 371-amino acid protein (4-Hydroxyphenylpyruvate Dioxygenase Like) that localizes to mitochondria but whose function is uncertain. Recently, biallelic loss of function variants and missense substitution-causing variants in HPDL were reported to cause a childhood onset progressive spastic movement disorder with a variable presentation. These findings suggest that HPDL-related neurological disease may mimic spastic cerebral palsy and that GAD1 should not be included in diagnostic gene panels for inherited cerebral palsy.NIH