Abstract: Disclosed herein is a novel biomarker and methods for determining the disease activity and prognosis of facioscapulohumeral muscular dystrophy (FSHD) using the novel biomarker.

Abstract: Described herein are compositions and methods for selective depletion of target molecules using a recyclable CDP-receptor-binding mediated complex to elicit endocytosis and cellular degradation of the target. Exemplary compositions containing a peptide, such as a CDP peptide, that bind a transferrin receptor can be linked to a peptide that binds a target molecule. Such compositions can be used to selectively recruit the target molecule to endosomes via transferrin receptor-mediated endocytosis of the composition and the bound target molecule. Once inside the endosome, the acidic pH can lead to release of the target molecule from the composition due to pH-dependent binding of the composition for the target molecule, and the transferrin receptor portion is recycled back to the cell surface for “reloading”. The target molecule can then be trafficked into lysosomes wherein it is degraded.

Abstract: DUX4 can be used as a biomarker for predicting a patient's response to immunotherapy, and inhibition of DUX4 can be used in therapeutic methods for treating DUX4+ cancers. Accordingly, aspects of the disclosure relate to a method for treating cancer in a patient comprising administering a DUX4 inhibitor to the patient. Further aspects of the disclosure relate to a method for treating a DUX4+ cancer in a patient, the method comprising administering a checkpoint inhibitor to the patient. Other aspects relate to a composition comprising a DUX4 inhibitor and a checkpoint inhibitor.

Abstract: The present invention relates generally to the field of molecular biology and genetics. More particularly, it concerns methods and compositions for detecting, diagnosing, and/or treating facioscapulohumeral dystrophy (FSHD2).

Abstract: The present invention provides a method for rapidly detecting the genome-wide presence of palindrome formation. The method has demonstrated that somatic palindromes occur frequently and are widespread in human cancers. Individual tumor types have a characteristic non-random distribution of palindromes in their genome and a small subset of the palindromic loci are associate with gene amplification. The disclosed method can be used to define the plurality of genomic DNA palindromes associated with various tumor types and can provide methods for the classification of tumors, and the diagnosis, early detection of cancer as well as the monitoring of disease recurrence and assessment of residual disease.