People affected by chronic inflammatory demyelinating polyneuropathy need close follow-up so that the medical team can ensure they receive the most appropriate therapies or medical interventions to prevent irreversible axonal degeneration. 📚Authorea

brnw.ch/21wJe2l

Cognitive impairment in patients with neuromyelitis optica spectrum disorder ( #NMOSD ) is correlated with physical disability but not with several other factors, according to a Mexican study published in Multiple Sclerosis and Related Disorders Journal,

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#RareDisease #MedTwitter

#WorldOrphanUSA : Clinical experts and advocates call for improving children’s access to essential health care by streamlining the Medicaid provider screening & enrollment process for out-of-state providers

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#RDAatWODC World Orphan Drug Congress USA NORD

Researchers have unveiled a complex mechanism underlying antibody-mediated immune suppression (AMIS) and enhancement (AMIE), processes involved in hemolytic disease of the fetus and newborn ( #HDFN ).

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#RareDisease #MaternalFetalMedicine

Regional measures of dentate nuclei substructure appear to be sensitive measures of disease duration and ataxia severity in patients with Friedreich ataxia (FA), according to a recently published study in Movement Disorders.

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#RareDisease

#WorldOrphanUSA : After a 25-year journey advancing basic, translational & clinical science, the Friedreich ataxia community saw a drug approved by the U.S. FDA last year to slow down the course of the disease. Read more: rarediseaseadvisor.com/reports/after-…

#RDAatWODC FA Research Alliance…

#WorldOrphanUSA : 'These kids are not disposable.' - Patricia Welton founder and CEO of Beyond the Diagnosis.

World Orphan Drug Congress USA #RDAatWODC #OrphanDrugUSA #RareDisease

Alterations in the architecture of the protein synthesis machinery may be driving changes associated with translation in Huntington disease, according to a new study published in the journal Neurobiology of Disease.

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#RareDisease #Neurology

#WorldOrphanUSA : Heidi Ross, VP of policy and regulatory affairs at the National Organization for Rare Disorders (NORD), speaking at World Orphan Drug Congress USA.

#RDAatWODC #OrphanDrugUSA

#WorldOrphanUSA : Ron Bartek, President and Co-founder of FA Research Alliance, shares insights during a session focused on policies and strategies for improving #OrphanDrug accessibility.

World Orphan Drug Congress USA #RDAatWODC #GeneticTesting

#WorldOrphanUSA RDI World Orphan Drug Congress USA #RDAatWODC #OrphanDrugUSA

The use of serum chemistry profiling has proven to be a critical tool with clinical relevance for the diagnosis and prognostication of systemic mastocytosis (SM) and its variants. 📚 Blood Advances

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#RareDisease

#WorldOrphanUSA : When discussing rare diseases, considering the mental well-being of those providing care is equally as important as the attention paid to patients and their families, James Boomhower, Code Rare EMS Educator at Rare STRIDES®.

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#WorldOrphanUSA : Advocates at the World Orphan Drug Congress USA emphasized the critical need for increased awareness and early diagnosis of rare diseases in adults, highlighting the challenges and consequences of delayed recognition and treatment. Read more➡️brnw.ch/21wJaGq…

Hana and Patricia Weltin from Beyond the Diagnosis unveil their latest masterpiece featuring a portrait of Yiannis at #WorldOrphanUSA

#WorldOrphanUSA : Encouraging #GeneticTesting can cut the time to diagnosis & help patients find appropriate treatments more quickly, Kinnari Patel, president & CEO at Rocket Pharmaceuticals, said at the World Orphan Drug Congress USA USA 2024.

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#RDAatWODC #OrphanDrugUSA

Patients with primary biliary cholangitis are at a higher risk of fragility fractures, according to a study published in the @JMBR Plus.

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#RareDisease #MedNews

#WorldOrphanUSA : Emil Kakkis, MD, PhD, founder and CEO of Ultragenyx, discusses the use of #biomarkers to enable successful development of disease-modifying therapies for #RareDisease during a World Orphan Drug Congress USA session.

#OrphanDrugUSA #RDAatWODC

#WorldOrphanUSA : “Listen, believe, and validate what the people in front of you are telling you.” - Lara Bloom of The Ehlers-Danlos Society on medical gaslighting during the #RareDisease #DiagnosticOdyssey

#OrphanDrugUSA #RDAatWODC World Orphan Drug Congress USA