Faculty experiences and motivations in design thinking teaching and learning

IntroductionDesign thinking (DT) is a creative, iterative approach to generating solutions that are desirable, feasible, and viable. Given its role in fostering creativity and innovation, a growing number of higher education instructors are teaching DT. Exploring how and what instructors know about DT and why they might teach it could provide critical insight into the ways in which DT is operationalized in higher education teaching and learning.Materials and methodsA convergent parallel mixed methods design was used for data collected from online surveys administered to faculty teaching DT. The survey included items about DT practices, outcomes from DT, demographic characteristics, and course characteristics. Five open-text survey items queried participants about their definition of DT, why they teach DT, and what additional outcomes they observed. Descriptive statistics were used to analyze quantitative items and thematic analysis was used to analyze qualitative items.ResultsParticipants (n = 49) represented various academic ranks, disciplines, types of institutions, and geographic locations. Analyses indicated clear congruence between quantitative and qualitative data. Definitions of DT aligned with well-known models of DT. Motivations for teaching DT included the promotion of personal development, DT proficiency, impact, and interpersonal skill development. Other positive student outcomes observed included increases in enthusiasm, self-awareness, empowerment, optimism, and a sense of belonging. Negative student outcomes included time constraints, teamwork conflicts, and student frustration.ConclusionFaculty believe that DT leads to highly valuable social innovation skill sets for students. This cross-institutional, multi-disciplinary study provides critical insight into faculty experiences and motivations for teaching DT, offering various strategies for instructors and institutions interested in fostering the uptake of DT within higher education

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.Peer reviewe

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

Importance: Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation.Objective: To identify the genetic variants associated with juvenile ALS.Design, Setting, and Participants: In this multicenter family-based genetic study, trio whole-exome sequencing was performed to identify the disease-associated gene in a case series of unrelated patients diagnosed with juvenile ALS and severe growth retardation. The patients and their family members were enrolled at academic hospitals and a government research facility between March 1, 2016, and March 13, 2020, and were observed until October 1, 2020. Whole-exome sequencing was also performed in a series of patients with juvenile ALS. A total of 66 patients with juvenile ALS and 6258 adult patients with ALS participated in the study. Patients were selected for the study based on their diagnosis, and all eligible participants were enrolled in the study. None of the participants had a family history of neurological disorders, suggesting de novo variants as the underlying genetic mechanism.Main Outcomes and Measures: De novo variants present only in the index case and not in unaffected family members.Results: Trio whole-exome sequencing was performed in 3 patients diagnosed with juvenile ALS and their parents. An additional 63 patients with juvenile ALS and 6258 adult patients with ALS were subsequently screened for variants in the SPTLC1 gene. De novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient) were identified in 3 unrelated patients diagnosed with juvenile ALS and failure to thrive. A fourth variant (p.Leu39del) was identified in a patient with juvenile ALS where parental DNA was unavailable. Variants in this gene have been previously shown to be associated with autosomal-dominant hereditary sensory autonomic neuropathy, type 1A, by disrupting an essential enzyme complex in the sphingolipid synthesis pathway.Conclusions and Relevance: These data broaden the phenotype associated with SPTLC1 and suggest that patients presenting with juvenile ALS should be screened for variants in this gene.</p

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

We examined the role of repeat expansions in the pathogenesis of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) by analyzing whole-genome sequence data from 2,442 FTD/ALS patients, 2,599 Lewy body dementia (LBD) patients, and 3,158 neurologically healthy subjects. Pathogenic expansions (range, 40-64 CAG repeats) in the huntingtin (HTT) gene were found in three (0.12%) patients diagnosed with pure FTD/ALS syndromes but were not present in the LBD or healthy cohorts. We replicated our findings in an independent collection of 3,674 FTD/ALS patients. Postmortem evaluations of two patients revealed the classical TDP-43 pathology of FTD/ALS, as well as huntingtin-positive, ubiquitin-positive aggregates in the frontal cortex. The neostriatal atrophy that pathologically defines Huntington's disease was absent in both cases. Our findings reveal an etiological relationship between HTT repeat expansions and FTD/ALS syndromes and indicate that genetic screening of FTD/ALS patients for HTT repeat expansions should be considered

Low-Frequency Type-II Radio Detections and Coronagraph Data Employed to Describe and Forecast the Propagation of 71 CMEs/Shocks

The vulnerability of technology on which present society relies demands that a solar event, its time of arrival at Earth, and its degree of geoeffectiveness be promptly forecasted. Motivated by improving predictions of arrival times at Earth of shocks driven by coronal mass ejections (CMEs), we have analyzed 71 Earth-directed events in different stages of their propagation. The study is primarily based on approximated locations of interplanetary (IP) shocks derived from type II radio emissions detected by the Wind/WAVES experiment during 1997-2007. Distance-time diagrams resulting from the combination of white-light corona, IP type II radio, and in situ data lead to the formulation of descriptive profiles of each CME's journey toward Earth. Furthermore, two different methods to track and predict the location of CME-driven IP shocks are presented. The linear method, solely based on Wind/WAVES data, arises after key modifications to a pre-existing technique that linearly projects the drifting low-frequency type II emissions to 1 AU. This upgraded method improves forecasts of shock arrival time by almost 50%. The second predictive method is proposed on the basis of information derived from the descriptive profiles, and relies on a single CME height-time point and on low-frequency type II radio emissions to obtain an approximate value of the shock arrival time at Earth. In addition, we discuss results on CME-radio emission associations, characteristics of IP propagation, and the relative success of the forecasting methods.Comment: Solar Physics; Accepted for publication 2015-Apr-2

Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis

Importance: Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation. Objective: To identify the genetic variants associated with juvenile ALS. Design, Setting, and Participants: In this multicenter family-based genetic study, trio whole-exome sequencing was performed to identify the disease-associated gene in a case series of unrelated patients diagnosed with juvenile ALS and severe growth retardation. The patients and their family members were enrolled at academic hospitals and a government research facility between March 1, 2016, and March 13, 2020, and were observed until October 1, 2020. Whole-exome sequencing was also performed in a series of patients with juvenile ALS. A total of 66 patients with juvenile ALS and 6258 adult patients with ALS participated in the study. Patients were selected for the study based on their diagnosis, and all eligible participants were enrolled in the study. None of the participants had a family history of neurological disorders, suggesting de novo variants as the underlying genetic mechanism. Main Outcomes and Measures: De novo variants present only in the index case and not in unaffected family members. Results: Trio whole-exome sequencing was performed in 3 patients diagnosed with juvenile ALS and their parents. An additional 63 patients with juvenile ALS and 6258 adult patients with ALS were subsequently screened for variants in the SPTLC1 gene. De novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient) were identified in 3 unrelated patients diagnosed with juvenile ALS and failure to thrive. A fourth variant (p.Leu39del) was identified in a patient with juvenile ALS where parental DNA was unavailable. Variants in this gene have been previously shown to be associated with autosomal-dominant hereditary sensory autonomic neuropathy, type 1A, by disrupting an essential enzyme complex in the sphingolipid synthesis pathway. Conclusions and Relevance: These data broaden the phenotype associated with SPTLC1 and suggest that patients presenting with juvenile ALS should be screened for variants in this gene