Identification and analysis of novel genes and regulatory regions associated with disorders of sex development

患有性发育障碍（DSD）的儿童在染色体、激素或生殖器官方面可能与典型的男性或女性不同，有时会导致不育或性腺癌。dds是最常见的出生缺陷，然而，大多数病例是无法解释的遗传。我希望能找到性腺形成所需的新基因，这些基因在突变时导致DSD。这项工作将提供关于dsd如何产生的答案，并允许对可能的治疗做出明智的决策。

Children born with a disorder of sex development (DSD) may differ from typical males or females in their chromosomes, hormones or reproductive organs, sometimes resulting in infertility or gonadal cancer. DSDs are the most common birth defect and yet, most cases are unexplained genetically. I hope to identify new genes needed for gonad formation that cause DSD when mutated. This work will provide answers as to how DSDs arise, and allow informed decision-making regarding possible treatments.