Josh Fessel’s Post

Mitochondriacs in my network (I know I have more than a few!). Take the opportunity to review and comment on the revised National Institute of Neurological Disorders and Stroke (NINDS) Common Data Elements for Mitochondrial Disease (v2.0) before November 15th. This initiative is updating tools to improve data quality and allow for harmonization of data collected in different research studies! This is critical when thinking about maximizing the ability to use clinical research data beyond just the original primary or secondary outcome it was collected for.

A laboratory test alone is not enough! Diagnosing autoimmune diseases involves a thorough process integrating clinical history, physical examination, and specialized investigations like serological tests and biopsies for confirmation. Laboratory tests, including those for antibodies and acute phase reactants, play a crucial role in identifying specific markers of disease activity. All antibodies may not directly cause the disease! Autoantibodies play a dual role in autoimmune diseases: they can either directly contribute to the pathology of antibody-mediated autoimmune diseases or be linked to various autoimmune conditions. Understanding their specific roles is crucial in diagnosing and managing these complex diseases effectively. #AutoimmuneDiseases #autoantibodies #MedicalDiagnosis #PatientCare

Variants in POLG are one of the most common causes of inherited mitochondrial disease. Phenotypic classification of POLG disease has evolved haphazardly making it complicated and difficult to implement in everyday clinical practise. The aim of our study was to simplify the classification and facilitate better clinical recognition. https://lnkd.in/e-qYDTE9

Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4: A poly-glycine disease. #SCA #spinocerebellar #ataxia #ZFHX3 Here, they report the discovery of exonic GGC trinucleotide repeat expansions, encoding poly-glycine, in zinc finger homeobox 3 (ZFHX3) in two Swedish kindreds described in 2014 with autosomal-dominant ataxia with sensory and autonomic neuropathy. They also found ZFHX3 repeat expansions in three additional families, all from the region of Skåne in southern Sweden. Individuals with expanded repeats developed balance and gait disturbances at 15 to 60 years of age and had sensory neuropathy and slow saccades. https://lnkd.in/dcQ9NXfe

🎬 #Throwback to an educational gem from Prof. Julie De Backer on Marfan Syndrome diagnosis. This video dives into the key aspects of diagnosing Marfan syndrome with its main clinical manifestations, helping both healthcare professionals and individuals better understand this rare vascular disease. Join us in raising awareness of Marfan syndrome. Watch, learn and share ➡ https://bit.ly/4730prH #rarediseases #marfansyndrome #medicaleducation #earlydiagnosis #genetics #cardiachealth #vascularhealth #healthcareprofessionals #publichealth #healthcare #throwbackthursday

In a recently published review article, researchers from University Hospital Southampton NHS FT and the University of Southampton evaluate PExA's technology by summarizing results from previous studies using PExA and comparable methods. The measurement of specific biomarkers of airway inflammation obtained directly from the RTLF by PExA enables a more accurate and comprehensive understanding of pathophysiological changes at the molecular level in patients with acute and chronic lung diseases. The article describes how acute and chronic lung diseases are increasing and that PExA can provide unique non-invasive small airway-sampling.   The article titled "Particles in Exhaled Air (PExA): Clinical Uses and Future Implications" is publicly available via the PubMed link: https://lnkd.in/dCGx9GaY   Read the entire press release in the link below. https://lnkd.in/diWriNZq

Are you interested in Ataxia and its disease progression? This May 2024, The Cerebellum has an amazing collection of articles including one that the COA Science team at Parexel contributed to. Link below #Ataxia #clinicaloutcomesassessment #parexel #coascience

As the RDD, the Rare Disease Day, is approaching, I would like to share our research paper on the experiences of rare disease patients during their undiagnosed period. It shows complicated history, which sometimes results in resignation to pursue diagnosis. Also, many patients thought the symptoms were due to the constitution and did not suspect a rare disease. By publishing this paper, we have come to think that many medical researchers are more interested in physical aspects of rare diseases and there are comparatively fewer research works that aim to understand "feelings" and "thoughts" of patients. https://lnkd.in/g_kMZMy8

Last chance! Running Large-Scale CRISPR Screens in Human Neurons Today, two experts will discuss solutions for running large-scale CRISPR screens to identify therapeutic targets for neurodegenerative diseases. Register now to join us for this free webinar sponsored by bit.bio https://ow.ly/gwPI50Q3cA4

Establishing a correct diagnosis for a person with a rare disease is not a cure or therapy. However, diagnosis does provide direct benefits and may be required to optimize medical care. The benefits of a diagnosis may include improved estimation of prognosis, direction of rational therapy, opportunities for genetic counseling, refinement of supportive care plans, and the end of a potentially expensive and/or invasive series of diagnostic investigations (“diagnostic “odyssey”). An insightful paper discussing laboratory, clinical and therapeutic aspects in rare diseases