Global Perspectives on Returning Genetic Research Results in Parkinson Disease.

Background And Objectives: In the era of precision medicine, genetic test results have become increasingly relevant in the care of patients with Parkinson disease (PD). While large research consortia are performing widespread research genetic testing to accelerate discoveries, debate continues about whether, and to what extent, the results should be returned to patients. Ethically, it is imperative to keep participants informed, especially when findings are potentially actionable.

African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1.

Recently, a novel African ancestry specific Parkinson's disease (PD) risk signal was identified at the gene encoding glucocerebrosidase ( ). This variant (rs3115534-G) is carried by ∼50% of West African PD cases and imparts a dose-dependent increase in risk for disease. The risk variant has varied frequencies across African ancestry groups, but is almost absent in European and Asian ancestry populations.

Synovial Chondromatosis of the Hand and Wrist: A 35-Year Retrospective Case Review.

Synovial chondromatosis is a condition that rarely occurs in the hand and wrist. Recurrence and malignant transformation are two potential complications of the disease. We set out to retrospectively review 35 years of practice within our sarcoma and tertiary hand unit and identify recurrence or malignant transformation.

Capturing Catchment Area Data Comprehensively: The North Carolina Cancer Health Assets and Needs Assessment (CHANA) Approach.

Background: A key requirement of community outreach and engagement offices within National Cancer Institute-designated cancer centers is to conduct a comprehensive examination of their catchment area's population, cancer burden, and assets. To accomplish this task, we describe the plan for implementing our initiative, the Cancer Health Assets and Needs Assessment (CHANA). CHANA compiles, into a single source, up-to-date data that describes the cancer landscape of North Carolina's 100 counties.

African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1.

Recently, an African ancestry-specific Parkinson disease (PD) risk signal was identified at the gene encoding glucocerebrosidase (GBA1). This variant ( rs3115534 -G) is carried by ~50% of West African PD cases and imparts a dose-dependent increase in risk for disease. The risk variant has varied frequencies across African ancestry groups but is almost absent in European and Asian ancestry populations.