Ballet No Kata

The purpose of this this is to investigate the relationship between ballet and judo. Ballet and judo are movement practices that emerged from specific cultural contexts, are codified forms that maintain traditions of the origin while continuing to evolve to new generations of practitioners, and both require coordination between the body and the mind to be performed successfully. To gain a deeper understanding of these physical parallels between ballet and judo, I went beyond my daily practice to study the movement vocabulary. I learned the first three sets of the traditional judo kata, Nage No Kata, which served as inspiration for an original ballet movement study that I created and performed. It was important to my investigation that my choreographed work be a duet. Classical ballet is performed as an individual or with others in a duet, trio or group. However, judo cannot be done without a partner. In judo, whether in contest or kata, the uke and the tori are always facing one another; close contact is required for the throws to occur. When creating “Ballet No Kata’’, my initial inclination was to establish the same spatial relationship between the dancing bodies. Yet, while partnered dancers may be in an intimate proximity to one another, rarely do they stand face to face. Such a stance would not be consistent with classical ballet’s presentation of the body to the audience. As I created “Ballet No Kata”, I was also interested in how two dancing bodies could be in an established relationship without being physically connected. Relationship is critical in both ballet and judo; there must be trust, synchronization and understanding between the bodies no matter their orientation in space. During the course of this research, both the analysis and the performance, I was able to move beyond the expression of a personal journey to show the interdisciplinary link between practices. There is a lack of connection between the world of dance, and the other physical disciplines that fall under the dichotomy of sport. By analyzing the movements in the ballet vocabulary and the judo vocabulary and finding parallels, I hope to present greater acknowledgement that these two worlds are closely related. Moreover, movers of any kind are informed from their lifetime of physical work. When parallels are made between past and current experiences, the information can be drawn upon to supplement growth

Ballet No Kata

From early on in my childhood, my identity as a person was bound to one area of my life: dancing. Movement was always so essential to myself and overall well - being. I always separated myself from my peers at school: “I don’t do sports, I dance”. I never really considered the athletics of dance nor was able to imagine a potential parallel to the sports world until my college experience. During my first few weeks as a college freshman, I discovered and promptly fell in love with the Japanese fighting sport of judo. Initially, I felt as if I were occupying two utterly different worlds – there seemed to be little similarities between the refined precision of ballet and the instinctual unpredictability of judo. However, as I gained a deeper understanding of my body movement on an anatomic, spacial and artistic level in my ballet classes, I had a simultaneous progression in judo. It seemed that quite suddenly that these two halves of myself were not separate from one another, but a merging of body information that led to subsequent awareness of movement that I did not think was possible. From that instance of realization, I have been further researching and analyzing the parallels of the movement vocabulary that is present in ballet and judo. Through the lens of Irmgard Bartenieff’s six patterns of body connectivity there becomes a distinct framework to relate the two practices. Rarely do athletics and the arts occupy the same realm, yet there are such relevance to the individual in terms of physical health, mental well – being and overall satisfaction in life. Practitioners of either judo or ballet will be presented with information that could potentially aid their growth in performance and awareness. Interdisciplinary work offers new perspective and presentation of information and can act as a catalyst for learning, inspiration and innovation. The primary source for my research is drawn upon my personal experience as a college dance major and as a college judo player. To supplement my firsthand experience, I will draw upon written sources that have done previous research on Bartenieff’s six patterns of connectivity, the anatomical workings of the body when performing ballet and judo, and the consequential benefits of participation in moving to the body and mind. To continue my understanding of the paralleling workings of the body during ballet and judo, I have learned the traditional Nage No Kata, a codified judo throwing form. Additionally, I will be composing my own kata or form, using the general structure, level changes and relationships established in Nage No Kata. However, my form, Ballet No Kata, will consist of movement that are of the traditional ballet dance form. Throughout this process, I will uncover further how the arts and athletics can inform one another. Personally, I will continue my exploration of how participation in one area can positively enhance the performance in the other. Yet, I will be able to share this experience with others on a broader scale to potentially provide a new tool or insight on their own practice. The research will also advocate for the necessity of daily movement by laying out the benefits one can glean from a set movement practice. The performance aspect of my research will also provide visual exposure to those who never witnessed ballet or judo, or never considered the relationship between sports and the performing arts. The final result will be a paper of thirty to fifty pages that thoroughly examines the parallel relationship between ballet and judo in terms of the physicality and mentality and the consequential benefits that participation in such practices provides. To visually illustrate the parallels, there will be the composition and performance of my original form, Ballet No Kata alongside of the traditional codified Nage No Kata

Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders

Genetic influences on psychiatric disorders transcend diagnostic boundaries, suggesting substantial pleiotropy of contributing loci. However, the nature and mechanisms of these pleiotropic effects remain unclear. We performed analyses of 232,964 cases and 494,162 controls from genome-wide studies of anorexia nervosa, attention-deficit/hyper-activity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, and Tourette syndrome. Genetic correlation analyses revealed a meaningful structure within the eight disorders, identifying three groups of inter-related disorders. Meta-analysis across these eight disorders detected 109 loci associated with at least two psychiatric disorders, including 23 loci with pleiotropic effects on four or more disorders and 11 loci with antagonistic effects on multiple disorders. The pleiotropic loci are located within genes that show heightened expression in the brain throughout the lifespan, beginning prenatally in the second trimester, and play prominent roles in neurodevelopmental processes. These findings have important implications for psychiatric nosology, drug development, and risk prediction.Peer reviewe

Analysis of shared heritability in common disorders of the brain

ience, this issue p. eaap8757 Structured Abstract INTRODUCTION Brain disorders may exhibit shared symptoms and substantial epidemiological comorbidity, inciting debate about their etiologic overlap. However, detailed study of phenotypes with different ages of onset, severity, and presentation poses a considerable challenge. Recently developed heritability methods allow us to accurately measure correlation of genome-wide common variant risk between two phenotypes from pools of different individuals and assess how connected they, or at least their genetic risks, are on the genomic level. We used genome-wide association data for 265,218 patients and 784,643 control participants, as well as 17 phenotypes from a total of 1,191,588 individuals, to quantify the degree of overlap for genetic risk factors of 25 common brain disorders. RATIONALE Over the past century, the classification of brain disorders has evolved to reflect the medical and scientific communities' assessments of the presumed root causes of clinical phenomena such as behavioral change, loss of motor function, or alterations of consciousness. Directly observable phenomena (such as the presence of emboli, protein tangles, or unusual electrical activity patterns) generally define and separate neurological disorders from psychiatric disorders. Understanding the genetic underpinnings and categorical distinctions for brain disorders and related phenotypes may inform the search for their biological mechanisms. RESULTS Common variant risk for psychiatric disorders was shown to correlate significantly, especially among attention deficit hyperactivity disorder (ADHD), bipolar disorder, major depressive disorder (MDD), and schizophrenia. By contrast, neurological disorders appear more distinct from one another and from the psychiatric disorders, except for migraine, which was significantly correlated to ADHD, MDD, and Tourette syndrome. We demonstrate that, in the general population, the personality trait neuroticism is significantly correlated with almost every psychiatric disorder and migraine. We also identify significant genetic sharing between disorders and early life cognitive measures (e.g., years of education and college attainment) in the general population, demonstrating positive correlation with several psychiatric disorders (e.g., anorexia nervosa and bipolar disorder) and negative correlation with several neurological phenotypes (e.g., Alzheimer's disease and ischemic stroke), even though the latter are considered to result from specific processes that occur later in life. Extensive simulations were also performed to inform how statistical power, diagnostic misclassification, and phenotypic heterogeneity influence genetic correlations. CONCLUSION The high degree of genetic correlation among many of the psychiatric disorders adds further evidence that their current clinical boundaries do not reflect distinct underlying pathogenic processes, at least on the genetic level. This suggests a deeply interconnected nature for psychiatric disorders, in contrast to neurological disorders, and underscores the need to refine psychiatric diagnostics. Genetically informed analyses may provide important "scaffolding" to support such restructuring of psychiatric nosology, which likely requires incorporating many levels of information. By contrast, we find limited evidence for widespread common genetic risk sharing among neurological disorders or across neurological and psychiatric disorders. We show that both psychiatric and neurological disorders have robust correlations with cognitive and personality measures. Further study is needed to evaluate whether overlapping genetic contributions to psychiatric pathology may influence treatment choices. Ultimately, such developments may pave the way toward reduced heterogeneity and improved diagnosis and treatment of psychiatric disorders

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Purpose: Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin–Siris patients (ARID1B-CSS) and it is unclear whether these data are representative for patients identified through sequencing of unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic and phenotypic differences between ARID1B-ID and ARID1B-CSS. In parallel, we investigated the effect of different methods of phenotype reporting. Methods: Clinicians entered clinical data in an extensive web-based survey. Results: 79 ARID1B-CSS and 64 ARID1B-ID patients were included. CSS-associated dysmorphic features, such as thick eyebrows, long eyelashes, thick alae nasi, long and/or broad philtrum, small nails and small or absent fifth distal phalanx and hypertrichosis, were observed significantly more often (p < 0.001) in ARID1B-CSS patients. No other significant differences were identified. Conclusion: There are only minor differences between ARID1B-ID and ARID1B-CSS patients. ARID1B-related disorders seem to consist of a spectrum, and patients should be managed similarly. We demonstrated that data collection methods without an explicit option to report the absence of a feature (such as most Human Phenotype Ontology-based methods) tended to underestimate gene-related features

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Purpose Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion The “ClinVar low-hanging fruit” analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock