Diagnostic Dilemmas "True Unknowns"from the Undiagnosed Diseases Network
This session will highlight complex diagnostic cases from the Undiagnosed Diseases Network (UDN). Expert clinicians will provide thorough summaries of cases that have defied conventional diagnostic approaches. Attendees will gain valuable insights into the multidisciplinary strategies employed by the UDN and provide input on additional diagnostic avenues to pursue.
This session is intended to enhance the participants' competence in diagnosing rare and undiagnosed diseases. By sharing real cases and experiences from the UDN, the session aims to broaden the participants' understanding of the complexities and challenges involved in these diagnostic dilemmas. The session also seeks to improve the participants' performance in approaching and solving diagnostic dilemmas, ideally contributing to improved patient outcomes by increasing the likelihood of accurate and timely diagnosis.
This session addresses several professional practice gaps in the field of medical genetics:
1. Diagnostic Challenges: Undiagnosed diseases often present unique diagnostic challenges due to their rarity and complexity. This session aims to address this gap by providing participants with insights and strategies to navigate these challenging cases.
2. Multidisciplinary Collaboration: The diagnosis of rare and undiagnosed diseases often requires a multidisciplinary approach. This session emphasizes the importance of collaboration in addressing diagnostic dilemmas.
3. Advanced Technologies and Innovative Methodologies: There is a need to bridge the gap between the availability of advanced technologies and innovative methodologies and their optimal utilization in practice. This session will highlight the application of these strategies by the UDN, addressing the gap in knowledge and awareness of these cutting-edge diagnostic tools.
- Describe the complexities and challenges involved in diagnosing rare and undiagnosed diseases
- Explore the multidisciplinary strategies employed by the Undiagnosed Diseases Network (UDN) to address diagnostic dilemmas
- Identify advanced technologies and innovative methodologies that may be applied to complex undiagnosed cases
- Apply the knowledge gained to enhance competence in solving diagnostic challenges in the field of medical genetics
Welcome and Introduction8:00 AM – 8:02 AM
26-Year-old with Progressive Dystonia8:02 AM – 8:12 AM
3-Year-old and 19-Year-old with a Similar Connective Tissue Disease Phenotype and the Same Hemizygous Missense Variant in the WWC3 Gene8:12 AM – 8:22 AM
7-Year-old with a Familial Aneurysm Disorder in an Autosomal Dominant Inheritance Pattern8:22 AM – 8:32 AM
19-Year-old with Global Developmental Delay, Microcephaly, Short Stature, Hearing Loss and Dysmorphic Facies and a VUS at RBBP58:32 AM – 8:42 AM
34-Year-old with Progressive Cerebellar Ataxia and a Repeat Expansion in the ATXN8/ATXN8OS Gene and Compound Heterozygous Variants in the DDX10 Gene8:42 AM – 8:52 AM
17-Year-old with Episodes of Upward Eye Deviation, Worsening Dysarthria and Dysphagia and Abnormal EEG with a De Novo, Heterozygous Variant in CADM4 and Compound Heterozygous Variants in TIAM28:52 AM – 9:02 AM
44-Year-old with Multiple Cutaneous Vascular Lesions and Lymphedema9:02 AM – 9:12 AM
32-Year-old with Unusual and Recurring Desmoid Fibromas and a Heterozygous EYA1 Variant of Uncertain Significance9:12 AM – 9:22 AM
Panel DiscussionClosing Remarks9:22 AM – 9:30 AM