Clinical Trial Readiness for Spinal Muscular Atrophy: Experience of an International Educational-Training Initiative

Several successful clinical trials have been conducted in spinal muscular atrophy (SMA) over recent years which have led to the approval of splicing modifiers and gene transfer therapies. With an increasing number of other agents progressing through pre-clinical and clinical development, increasing worldwide clinical trial readiness is becoming essential.SMA Europe initiated a clinical trial readiness project, which included the development of a pilot face-to-face educational-training initiative for clinical specialists and physiotherapists involved in SMA, with an emphasis on the patient perspective. Participants were selected through two surveys and, ahead of the meeting, a mock protocol with specific questions was provided. The initiative involved a series of presentations, role-play and interactive exercises. We describe here our experience and evaluation of this educational-training initiative, emphasising scientific aspects, psychosocial implications and level of satisfaction.From a participant, patient and industry perspective, such training was considered successful and met the objective, which was to improve clinical trial readiness in emerging sites. Resource planning, ethical considerations and communication with patients were identified as three important topics for future training. This initiative highlights the need to develop a training programme to achieve clinical trial readiness across Europe and showcases a collaborative effort with different stakeholders, clinicians, patient advocacy groups and sponsors to address an important issue

eGenomics: Cataloguing Our Complete Genome Collection III

This meeting report summarizes the proceedings of the “eGenomics: Cataloguing our Complete Genome Collection III” workshop held September 11–13, 2006, at the National Institute for Environmental eScience (NIEeS), Cambridge, United Kingdom. This 3rd workshop of the Genomic Standards Consortium was divided into two parts. The first half of the three-day workshop was dedicated to reviewing the genomic diversity of our current and future genome and metagenome collection, and exploring linkages to a series of existing projects through formal presentations. The second half was dedicated to strategic discussions. Outcomes of the workshop include a revised “Minimum Information about a Genome Sequence” (MIGS) specification (v1.1), consensus on a variety of features to be added to the Genome Catalogue (GCat), agreement by several researchers to adopt MIGS for imminent genome publications, and an agreement by the EBI and NCBI to input their genome collections into GCat for the purpose of quantifying the amount of optional data already available (e.g., for geographic location coordinates) and working towards a single, global list of all public genomes and metagenomes

The Grizzly, October 18, 2001

Sisters of Omega Chi Sponsor Blood Drive • Taking a Hike with the Environmental Studies Classes • World Cultures Club Encourages Campus-Wide Cultural Awareness • Gil Cook and Heather Potts Named 2001 Homecoming King and Queen • Understanding the Social Norms at Ursinus College • Ursinus Bookstore Holding Coat and Blanket Drive • Ursinus Alumna Martha Kriebel Reflects on the Unexpected Turns in Life\u27s Path • The Economic Effects of Terrorism • Struggling to Survive: The Way of Life for Women in Afghanistan • From Mexico to Collegeville: International Exchange Student Enrique Cobarrubias • Sophomore Week: Helping Students Reach Academic Goals • Second Annual Take Back the Night Rally & March Planned for Next Week • Opinions: Lady Wismer Attacks Students Saying Next Time, I\u27m Gonna Nail You! ; A Student\u27s Battle with Smoking; New Gym is Great, not Awkward; Message of Tolerance and Peace; One Resident Complains: Loss of Interest in Special Interest Houses • Dr. David Releases his own CD • New Road Brewhouse Ready to Rock! • Scary Way to Have a Fun Fall Day • Chinese Food: The Staple of Every College Student\u27s Diet • Can\u27t Decide What to do after Graduation? This Online Program Will Help • Class of 2003 has a new President • Ruby\u27s Restaurant: A Tasty Time Capsule • Give the Wismer Staff a Break: They\u27re Working for You • Who is Grizzly the Bear? • Ursinus Field Hockey Takes Victory over Holy Cross • Bears Wake from Hibernation; Crush Gettysburg 31-7 • Men\u27s Soccer Meets Gettysburg • Volleyball Wins Against Bryn Mawr and U. of the Sciences • XC Cleans up at Lehigh University • Barth Becomes Record-holder for Points • Field Hockey Changing NCAA Division • Women\u27s Soccer Rocks the Househttps://digitalcommons.ursinus.edu/grizzlynews/1497/thumbnail.jp

Songbirds as sentinels of mercury in terrestrial habitats of eastern North America

Mercury (Hg) is a globally distributed environmental contaminant with a variety of deleterious effects in fish, wildlife, and humans. Breeding songbirds may be useful sentinels for Hg across diverse habitats because they can be effectively sampled, have well-defined and small territories, and can integrate pollutant exposure over time and space. We analyzed blood total Hg concentrations from 8,446 individuals of 102 species of songbirds, sampled on their breeding territories across 161 sites in eastern North America [geometric mean Hg concentration = 0.25 μg/g wet weight (ww), range < 0.01–14.60 μg/g ww]. Our records span an important time period—the decade leading up to implementation of the USEPA Mercury and Air Toxics Standards, which will reduce Hg emissions from coal-fired power plants by over 90%. Mixed-effects modeling indicated that habitat, foraging guild, and age were important predictors of blood Hg concentrations across species and sites. Blood Hg concentrations in adult invertebrate-eating songbirds were consistently higher in wetland habitats (freshwater or estuarine) than upland forests. Generally, adults exhibited higher blood Hg concentrations than juveniles within each habitat type. We used model results to examine species-specific differences in blood Hg concentrations during this time period, identifying potential Hg sentinels in each region and habitat type. Our results present the most comprehensive assessment of blood Hg concentrations in eastern songbirds to date, and thereby provide a valuable framework for designing and evaluating risk assessment schemes using sentinel songbird species in the time after implementation of the new atmospheric Hg standards.Keywords: Songbird, Sentinel, Bioaccumulation, Mercury, Passeriforme

Beliefs and perceptions about the causes of breast cancer: a case-control study

Background: Attributions of causality are common for many diseases, including breast cancer. The risk of developing breast cancer can be reduced by modifications to lifestyle and behaviours to minimise exposure to specific risk factors, such as obesity. However, these modifications will only occur if women believe that certain behaviours/lifestyle factors have an impact on the development of breast cancer. Method: The Breast Cancer, Environment and Employment Study is a case-control study of breast cancer conducted in Western Australia between 2009 and 2011. As part of the study 1109 women with breast cancer and 1633 women without the disease completed a Risk Perception questionnaire in which they were asked in an open-ended question for specific cause/s to the development of breast cancer in themselves or in others. The study identified specific causal beliefs, and assessed differences in the beliefs between women with and without breast cancer. Results: The most common attributions in women without breast cancer were to familial or inherited factors (77.6%), followed by lifestyle factors, such as poor diet and smoking (47.1%), and environmental factors, such as food additives (45.4%). The most common attributions in women with breast cancer were to mental or emotional factors (46.3%), especially stress, followed by lifestyle factors (38.6%) and physiological factors (37.5%), particularly relating to hormonal history.Conclusions: While the majority of participants in this study provided one or more causal attributions for breast cancer, many of the reported risk factors do not correspond to those generally accepted by the scientific community. These misperceptions could be having a significant impact on the success of prevention and early detection programs that seek to minimise the pain and suffering caused by this disease. In particular, women who have no family history of the disease may not work to minimise their exposure to the modifiable risk factors

Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

Public Service Announcement for Digital Preservation

This short audio clip is a public service announcement (PSA) advocating for responsible digital preservation. The PSA is done in the style of film noir and discusses the dangers of hardware obsolescence

Investigating Axial Seamount: Using Student-Generated Models to Understand Plate Tectonics

Teach students to use their own models as tools for constructing a scientific explanation of a natural phenomenon

Investigating the impact of eliciting and being responsive to students\u27 initial ideas on productive disciplinary engagement across a unit

In this study, we examined the ways in which two middle school science teachers elicited and were responsive to students\u27 initial science ideas for explaining an anchoring phenomenon while teaching the same model-based learning unit focused on plate tectonics. Data sources included student models, classroom video, and classroom artifacts. Our analysis revealed a connection between the elicitation of initial ideas, teacher responsiveness to those ideas, and the continued use of those ideas by the students across the unit as evidenced in their individually constructed models. In both classrooms, variation in initial ideas seen on the first day narrowed as students engaged in activities designed to challenge their ideas and present the scientifically accepted explanation of the phenomenon. In one classroom, however, far more ideas were surfaced early, and those ideas were utilized by students as they made sense of the phenomenon. In the other classroom, far fewer ideas were surfaced early and those that were all but disappeared once the unit activities began suggesting student ideas were less likely to be utilized as a sense-making resource. This study contributes to a growing understanding of the importance of eliciting and responding to students\u27 initial ideas in students\u27 productive disciplinary engagement across an instructional unit