Zach McMiller, MD

Amy Blake Susnow, MD

X-Linked Adrenoleukodystrophy: Clinical Manifestations, Diagnostic Strategies, and Therapeutic Advances

• Summarize the molecular pathogenesis of X-linked adrenoleukodystrophy (X-ALD), including the role of pathogenic variants in ABCD1 and the toxic accumulation of very long-chain fatty acids (VLCFAs).
• Differentiate the clinical phenotypes of X-ALD, including childhood cerebral adrenoleukodystrophy (cCALD), adrenomyeloneuropathy (AMN), and primary adrenocortical insufficiency (Addison disease).
• List three scenarios in which X-linked adrenoleukodystrophy (X-ALD) may be considered, including a discussion of suggestive findings and means of establishing the diagnosis.
• Discuss clinical management guidelines and therapeutic options for X-ALD, including hormone replacement, hematopoietic stem cell transplantation (HSCT), and gene therapy. 

Ella Martin, BA

Kate Watkin, MGC, CGC

Becky Pulvermacher, MGCS, CGC

Inpatient Genetic Counseling for Congenital Short Bowel Syndrome: Approaching Sensitive Conversations with Families

• Identify the unique characteristics of obtaining test consent in the in-patient setting.
• Summarize the natural history of Congenital Short Bowel Syndrome.
• Discuss strategies for having sensitive conversations with young families.