"Double Rainbow," "Appalachiana," and "'The Invisible Mass': Exploring Compositional Technique in Alfred Schnittke's Second Symphony"

This dissertation consists of three distinct components: (1) “Double Rainbow,” a notated composition for an acoustic ensemble of 10 instruments, ca. 36 minutes. (2) “Appalachiana”, a fixed-media composition for electro-acoustic music and video, ca. 30 minutes, and (3) “'The Invisible Mass': Exploring Compositional Technique in Alfred Schnittke’s Second Symphony”, an analytical article.

(1) Double Rainbow is a ca. 36 minute composition in four movements scored for 10 instruments: flute, Bb clarinet (doubling on bass clarinet), tenor saxophone (doubling on alto saxophone), french horn, percussion (glockenspiel, vibraphone, wood block, 3 toms, snare drum, bass drum, suspended cymbal), piano, violin, viola, cello, and double bass. Each of the four movements of the piece explore their own distinct character and set of compositional goals. The piece is presented as a musical score and as a recording, which was extensively treated in post-production.

(2) Appalachiana, is a ca. 30 minute fixed-media composition for music and video. The musical component was created as a vehicle to showcase several approaches to electro-acoustic music composition –fft re-synthesis for time manipulation effects, the use of a custom-built software instrument which implements generative approaches to creating rhythm and pitch patterns, using a recording of rain to create rhythmic triggers for software instruments, and recording additional components with acoustic instruments. The video component transforms footage of natural landscapes filmed at several locations in North Carolina, Virginia, and West Virginia into a surreal narrative using a variety of color, lighting, distortion, and time-manipulation video effects.

(3) “‘The Invisible Mass:’ Exploring Compositional Technique in Alfred Schnittke’s Second Symphony” is an analytical article that focuses on Alfred Schnittke’s compositional technique as evidenced in the construction of his Second Symphony and discussed by the composer in a number of previously untranslated articles and interviews. Though this symphony is pivotal in the composer’s oeuvre, there are currently no scholarly articles that offer in-depth analyses of the piece. The article combines analyses of the harmony, form, and orchestration in the Second Symphony with relevant quotations from the composer, some from published and translated sources and others newly translated by the author from research at the Russian State Library in St. Petersburg. These offer a perspective on how Schnittke’s compositional technique combines systematic geometric design with keen musical intuition.

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.

PURPOSE: The endoplasmic reticulum-associated degradation pathway is responsible for the translocation of misfolded proteins across the endoplasmic reticulum membrane into the cytosol for subsequent degradation by the proteasome. To define the phenotype associated with a novel inherited disorder of cytosolic endoplasmic reticulum-associated degradation pathway dysfunction, we studied a series of eight patients with deficiency of N-glycanase 1. METHODS: Whole-genome, whole-exome, or standard Sanger sequencing techniques were employed. Retrospective chart reviews were performed in order to obtain clinical data. RESULTS: All patients had global developmental delay, a movement disorder, and hypotonia. Other common findings included hypolacrima or alacrima (7/8), elevated liver transaminases (6/7), microcephaly (6/8), diminished reflexes (6/8), hepatocyte cytoplasmic storage material or vacuolization (5/6), and seizures (4/8). The nonsense mutation c.1201A>T (p.R401X) was the most common deleterious allele. CONCLUSION: NGLY1 deficiency is a novel autosomal recessive disorder of the endoplasmic reticulum-associated degradation pathway associated with neurological dysfunction, abnormal tear production, and liver disease. The majority of patients detected to date carry a specific nonsense mutation that appears to be associated with severe disease. The phenotypic spectrum is likely to enlarge as cases with a broader range of mutations are detected.