Sujatha Jagannathan received a postdoctoral fellowship from the FSH Society. Suja proposed that RNA quality control pathways may be less efficient in muscle cells of patients with facioscapulohumeral muscular dystrophy (FSHD). FSHD is caused by inappropriate expression of the disease gene DUX4 in skeletal muscle of affected individuals, but the origins of DUX4's toxicity are not known. In the model that Suja proposed, reduced RNA surveillance efficiency permits normally degraded aberrant RNAs to become stably expressed in DUX4-expressing cells, thereby contributing to multiple aspects of the disease.
Heidi Dvinge received a postdoctoral fellowship from the Department of Defense's Breast Cancer Research Program. Heidi proposed to determine how the RNA components of the spliceosome contribute to breast cancer. These spliceosomal RNAs are best known for playing basal roles in splicing catalysis, and are not typically studied in the context of splicing regulation or dysregulation in disease. Heidi found evidence that spliceosomal RNAs may play important roles in the progression of "triple-negative" breast cancers, which are frequently aggressive and difficult to treat with currently available therapies.
Robert Bradley was named a New Scholar in Aging by the Ellison Medical Foundation. Rob proposed to determine how RNA quality control efficiency changes with age. Decreased RNA surveillance activity could lead to higher levels of aberrant, normally degraded mRNAs, ultimately contributing to aging-related protein aggregation and misfolding disorders.
Janine Ilagan received a postdoctoral fellowship from the Chromosome Metabolism and Cancer Training Grant. Janine proposed to determine how mutations affecting the protein components of the spliceosome contribute to blood disorders, including leukemias. Recently, RNA splicing factors were identified as common mutational targets in myelodysplastic syndromes and related disorders. These mutations directly implicate RNA splicing factors in tumorigenesis, but their functional consequences are unknown. Janine is determining how these mutations alter the normal roles of splicing factors, ultimately contributing to dysplastic hematopoiesis.