Abstract α-Thalassemia is an inherited, autosomal recessive, disorder characterized by a
microcytic hypochromic anemia. It is one of the most common monogenic gene disorders in …

The remarkable phenotypic diversity of β thalassemia that range from severe anemia and
transfusion-dependency, to a clinically asymptomatic state exemplifies how a spectrum of …

Background Sickle cell disease is characterized by hemolytic anemia, pain, and progressive
organ damage. A high level of erythrocyte fetal hemoglobin (HbF) comprising α-and γ …

Re-expression of the paralogous γ-globin genes (HBG1/2) could be a universal strategy to
ameliorate the severe β-globin disorders sickle cell disease (SCD) and β-thalassemia by …

To understand the mechanisms that mediate germline genetic leukemia predisposition, we
studied the inherited ribosomopathy Shwachman-Diamond syndrome (SDS), a bone …

Mammalian genes transcribe RNA not continuously, but in bursts. Transcriptional output can
be modulated by altering burst fraction or burst size, but how regulatory elements control …

Naturally occurring, large deletions in the β-globin locus result in hereditary persistence of
fetal hemoglobin, a condition that mitigates the clinical severity of sickle cell disease (SCD) …

The application of RNA interference (RNAi) to mammalian cells has provided the means to
perform phenotypic screens to determine the functions of genes. Although RNAi has …

We present SplashRNA, a sequential classifier to predict potent microRNA-based short
hairpin RNAs (shRNAs). Trained on published and novel data sets, SplashRNA outperforms …

Effective medical management for sickle cell disease (SCD) remains elusive. As a prevalent
and severe monogenic disorder, SCD has been long considered a logical candidate for …