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Genetic Investigation Reveals Novel Pathways For Disease Pathogenesis In Inherited And Mosaic Skin Disorders, Shayan Cheraghlou

Yale Medicine Thesis Digital Library

Introduction

Genetic mosaicism underlies many inherited and acquired cutaneous disorders. Despite the barriers to genetic analysis of mosaic disorders, next generation sequencing has led to substantial progress in understanding their pathogenesis, which has significant implications for clinical management and genetic counselling. Advances in paired and deep sequencing technologies in particular have made study of mosaic disorders more feasible. In this study, we aim to utilize next generation sequencing technologies in order to evaluate the genetic cause of three mosaic cutaneous disorders: epidermolytic acanthoma (EA), progressive symmetric erythrokeratodermia (PSEK), and mosaic childhood acantholytic dyskeratosis.

Methods

Using genomic DNA extracted from paraffin-embedded …

Pathogenesis Of Intracranial Aneurysms, Brian Vala Nahed

Yale Medicine Thesis Digital Library

Introduction: Intracranial aneurysms (IA) are a common neurological problem, the rupture of which frequently constitutes a catastrophic neurological event. While the pathogenesis is largely unknown, it is believed that both genetic and environmental factors work in concert to some degree within patients. Our goal was to take a comprehensive approach to understanding the pathogenesis of IA by identifying factors leading to the formation, growth and rupture of IA. Methods: Since 1994, we have recruited patients and families with IA into the Yale Brain Aneurysm Database. Information regarding aneurysm characteristics (size, location, number), patient characteristics (age, medical, and social history), and …

Correlation Between Mendelian Rescessive Traits And The Resistance To Fibrosarcoma In Mice, Frank Louis Gruskay

Yale Medicine Thesis Digital Library

[From the Summary] 1. A correlation between tumor resistance, as measured by the latency period and the percentage of animals acquiring tumors, and the number of recessive genes in the genotypic makeup has been investigated with methylcholanthrene-induced tumors in mice. 2. Evidence is presented which points to the fact that recessive genes impart more resistance than dominant ones. In addition, the relationship seems to be an additive phenomenon, i.e., the more recessive genes in the makeup of the animal, the greater the resistance. 3. The results of this study are discussed in light of the findings of various other investigators, …