The NIH-funded Rare Diseases Clinical Research Network is conducting an online research survey to understand the impacts of Covid-19 on the rare disease community. 

To better understand how individuals with rare diseases and their families are impacted by the COVID-19 pandemic, the NIH-funded Rare Diseases Clinical Research Network developed a twenty minute online research survey from home. This survey will provide an opportunity for rare disease patients and caregivers to share their experiences and help researchers learn more about community needs during a time of crisis. Learn more about this survey by clicking here.


Split hand and motor axonal hyperexcitability in spinal and bulbar muscular atrophy

Split hand is not specific to ALS and can be caused by the peripheral mechanism alone in SBMA, whereas the effect of upper motor neuron lesion cannot be excluded in ALS. Our results also suggest that SBMA and ALS share common axonal excitability changes; increased nodal persistent sodium and reduced potassium currents that may accelerate motor neuronal death and differently affect axons-innervating different muscles. Ion channel modulators could be a therapeutic option for both SBMA and ALS. To learn more, click here


Disease mechanism, biomarker and therapeutics for spinal and bulbar muscular atrophy (SBMA)

In the central nervous system, lower motor neurons are selectively affected, whereas pathology of patients and animal models also indicates involvement of skeletal muscle including loss of fasttwitch type 2 fibres and increased slow-twitch type 1 fibres, together with a glycolytic-to-oxidative metabolic switch. Evaluation of muscle and fat using MRI, in addition to biochemical indices such as serum creatinine level, are promising biomarkers to track the disease progression. The serum level of creatinine starts to decrease before the onset of muscle weakness, followed by the emergence of hand tremor, a prodromal sign of the disease. Androgen-dependent nuclear accumulation of the polyglutamine-expanded AR is an essential step in the pathogenesis, providing therapeutic opportunities via hormonal manipulation and gene silencing with antisense oligonucleotides. Animal studies also suggest that hyperactivation of Src, alteration of autophagy and a mitochondrial deficit underlie the neuromuscular degeneration in SBMA and provide alternative therapeutic targets. To learn more, click here.


Androgen Receptor Genetic Variant Predicts COVID-19 Disease Severity: A Prospective Longitudinal Study of Hospitalized COVID-19 Male Patients

Our data suggest that longer AR CAG score is associated with more severe COVID-19 disease. In  some  androgen  mediated  disease,  short  CAG  has  been  associate  with  worse  prognosis,  e.g.,  in prostate cancer.6 However, in skeletal muscle, a long CAG repeat length produces higher androgen mediated activity.7 We believe this discrepancy can be explained by the tissue dependent expression of  co-factors  important  for  activation  of  the  androgen  response  element  (ARE).8  For  example,  protein arginine methyltransferase 6 has been shown to be highly expressed in lung and has been shown to be a specific co-activator of the androgen receptor.9  The results of this study suggest that the AR CAG repeat length could potentially be used as a biomarker  to  identify  male  COVIID-19  patients  at  risk  for  ICU  admissions. To learn more, click here.


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