Conference Dates: Wednesday, October 14th & Thursday, October 15th. Draft Agenda, click here. This years conference will be a joint effort with the UK and the theme is "Moving Forward Together." These are challenging times. And though we may have to stay home for this conference, we can still connect and continue the fight for a cure! Tor register for this years conference, click here.
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.
ClC-2-like Chloride Current Alterations in a Cell Model of Spinal and Bulbar Muscular Atrophy, a Polyglutamine Disease
Here, we identified and characterized chloride currents most likely belonging to the chloride channel-2 (ClC-2) subfamily, which showed significantly increased amplitudes in the SBMA cells. The treatment with the pituitary adenylyl cyclase-activating polypeptide (PACAP), a neuropeptide with a proven protective effect in a mouse model of SBMA, recovered chloride channel current alterations in SBMA cells. These observations suggest that the CIC-2 currents are affected in SBMA, an alteration that may contribute and potentially determine the pathophysiology of the disease. Learn more by clicking here.
Molecular pathogenesis of spinal bulbar muscular atrophy (Kennedy’s disease) and avenues for treatment
There have been several well designed clinical trials in SBMA, and further therapeutics development is currently underway. The strategies include targeting AR expression and stability, modulation of AR activity and pathways that may mitigate disease toxicity. The diversity of approaches and improvement in our ability to evaluate therapeutic efficacy are encouraging progress in the development of well tolerated and effective treatment for SBMA. To learn more, click here.
Kennedy’s disease: an under‑recognized motor neuron disorder
Kennedy’s disease or spinal bulbar muscular atrophy is a rare, inherited and slowly progressive multisystem disease mostly manifesting with a motor neuron disease phenotype leading to disability. The slow progression, partial androgen insensitivity, electrophysiological evidence of sensory neuronopathy, and relatively spared central nervous system pathways help differentiate it from amyotrophic lateral sclerosis. To date, there is no treatment or cure with clinical care mainly focused on accurate diagnosis, symptom management, patient education, and genetic counselling. To learn more, click here.
Harmony Lost: Cell–Cell Communication at the Neuromuscular Junction in Motor Neuron Disease
The neuromuscular junction (NMJ) is a specialized synapse that is the point of connection between motor neurons and skeletal muscle. Although developmental studies have established the importance of cell–cell communication at the NMJ for the integrity and full functionality of this synapse, the contribution of this structure as a primary driver in motor neuron disease pathogenesis remains uncertain. Here, we consider the biology of the NMJ and review emerging lines of investigation that are highlighting the importance of cell–cell interaction at the NMJ in spinal muscular atrophy (SMA), X-linked spinal and bulbar muscular atrophy (SBMA), and amyotrophic lateral sclerosis (ALS). To learn more, click here.