Rare Disease Advisor
@rarediseaseadvisor.bsky.social
Trusted knowledge base of practical information and resources focused on treating and diagnosing #RareDisease.
https://www.rarediseaseadvisor.com/
https://www.rarediseaseadvisor.com/
#PFFSummit: Ayodeji Adegunsoye, MD, PhD, associate director of the Interstitial Lung Disease Program at UChicago Medicine, speaking Nov. 14 at the PFF Summit in Chicago.
Image & quote taken by Senior Correspondent, Larry Luxner.
#RareDisease #PulmonaryFibrosis #AI #MedTech #ILD #MedSky
Image & quote taken by Senior Correspondent, Larry Luxner.
#RareDisease #PulmonaryFibrosis #AI #MedTech #ILD #MedSky
November 15, 2025 at 3:15 PM
#PFFSummit: Ayodeji Adegunsoye, MD, PhD, associate director of the Interstitial Lung Disease Program at UChicago Medicine, speaking Nov. 14 at the PFF Summit in Chicago.
Image & quote taken by Senior Correspondent, Larry Luxner.
#RareDisease #PulmonaryFibrosis #AI #MedTech #ILD #MedSky
Image & quote taken by Senior Correspondent, Larry Luxner.
#RareDisease #PulmonaryFibrosis #AI #MedTech #ILD #MedSky
#PFFSummit: Karen Smoot of Albuquerque, New Mexico, PFF patient ambassador who lives with both #IdiopathicPulmonaryFibrosis and #PulmonaryArterialHypertension. Smoot, 79, spoke Nov. 14 at the 2025 PFF Summit in Chicago
Image & quote taken by Senior Correspondent, Larry Luxner.
#RareDisease #MedSky
Image & quote taken by Senior Correspondent, Larry Luxner.
#RareDisease #MedSky
November 15, 2025 at 3:00 PM
#PFFSummit: Karen Smoot of Albuquerque, New Mexico, PFF patient ambassador who lives with both #IdiopathicPulmonaryFibrosis and #PulmonaryArterialHypertension. Smoot, 79, spoke Nov. 14 at the 2025 PFF Summit in Chicago
Image & quote taken by Senior Correspondent, Larry Luxner.
#RareDisease #MedSky
Image & quote taken by Senior Correspondent, Larry Luxner.
#RareDisease #MedSky
Patients with #HereditaryAngioedema (HAE), particularly those without attacks, exhibited more positive emotional patterns than healthy controls, and higher positive affect correlated with improved quality of life. Published in Scientific Reports.
Learn more: https://bit.ly/3LGlPoP
#RareDisease
Learn more: https://bit.ly/3LGlPoP
#RareDisease
Stable Disease Control in HAE Links to More Positive Mood and Better QoL
Patients with hereditary angioedema, especially those without recent attacks, reported more positive emotions than healthy controls.
bit.ly
November 14, 2025 at 9:07 PM
Patients with #HereditaryAngioedema (HAE), particularly those without attacks, exhibited more positive emotional patterns than healthy controls, and higher positive affect correlated with improved quality of life. Published in Scientific Reports.
Learn more: https://bit.ly/3LGlPoP
#RareDisease
Learn more: https://bit.ly/3LGlPoP
#RareDisease
A pattern recognition approach is key to identifying and diagnosing #AutoimmuneNeuropathies other than typical chronic inflammatory demyelinating polyneuropathy (#CIDP) and its variants.
Read here: https://bit.ly/4i1Sxx8
#RareDisease #MedSky
Read here: https://bit.ly/4i1Sxx8
#RareDisease #MedSky
Pattern Recognition Key to Identifying Autoimmune Neuropathies Other Than CIDP
Proper diagnosis and treatment of these diseases are of great importance, as early immunotherapeutic intervention can help reduce nerve injury.
bit.ly
November 14, 2025 at 7:53 PM
A pattern recognition approach is key to identifying and diagnosing #AutoimmuneNeuropathies other than typical chronic inflammatory demyelinating polyneuropathy (#CIDP) and its variants.
Read here: https://bit.ly/4i1Sxx8
#RareDisease #MedSky
Read here: https://bit.ly/4i1Sxx8
#RareDisease #MedSky
A consensus project has highlighted hospital pharmacy-led priorities to improve care for patients with #HereditaryAngioedema (HAE) in Spain. Report in European Journal of Hospital Pharmacy @eahpofficial.bsky.social
Read here: https://bit.ly/3JWmJwP
#RareDisease #MedSky
Read here: https://bit.ly/3JWmJwP
#RareDisease #MedSky
Hospital Pharmacy-Led Monitoring and Telepharmacy May Improve Care in HAE
An expert panel was convened to identify key areas of activity for Spanish hospital pharmacists to support HAE management.
bit.ly
November 14, 2025 at 7:00 PM
A consensus project has highlighted hospital pharmacy-led priorities to improve care for patients with #HereditaryAngioedema (HAE) in Spain. Report in European Journal of Hospital Pharmacy @eahpofficial.bsky.social
Read here: https://bit.ly/3JWmJwP
#RareDisease #MedSky
Read here: https://bit.ly/3JWmJwP
#RareDisease #MedSky
Early treatment with #Rituximab may provide better outcomes for patients with new-onset generalized #MyastheniaGravis (MG), according to the long-term follow-up results of the #RINOMAX clinical trial published in the @europeanjournalofneurology.ean.org
Read more: https://bit.ly/47G1Krl
#MedSky
Read more: https://bit.ly/47G1Krl
#MedSky
Early Intervention With Rituximab May Benefit Patients With New-Onset Generalized MG
Based on the results of the RINOMAX trial, early intervention with rituximab treatment may benefit patients with new-onset MG.
bit.ly
November 14, 2025 at 6:06 PM
Early treatment with #Rituximab may provide better outcomes for patients with new-onset generalized #MyastheniaGravis (MG), according to the long-term follow-up results of the #RINOMAX clinical trial published in the @europeanjournalofneurology.ean.org
Read more: https://bit.ly/47G1Krl
#MedSky
Read more: https://bit.ly/47G1Krl
#MedSky
#PFFSummit: Imre Noth, MD, professor at the University of Virginia in Charlottesville, speaking Nov. 14 at the 2025 PFF Summit in Chicago.
Image & quote taken by Senior Correspondent, Larry Luxner.
#RareDisease #PulmonaryFibrosis #Pulmonology #MedSky
Image & quote taken by Senior Correspondent, Larry Luxner.
#RareDisease #PulmonaryFibrosis #Pulmonology #MedSky
November 14, 2025 at 5:35 PM
#PFFSummit: Imre Noth, MD, professor at the University of Virginia in Charlottesville, speaking Nov. 14 at the 2025 PFF Summit in Chicago.
Image & quote taken by Senior Correspondent, Larry Luxner.
#RareDisease #PulmonaryFibrosis #Pulmonology #MedSky
Image & quote taken by Senior Correspondent, Larry Luxner.
#RareDisease #PulmonaryFibrosis #Pulmonology #MedSky
#PFFSummit: Marilyn Glassberg, MD, professor at @loyolachicago.bsky.social’s Stritch School of Medicine, speaking Nov. 14 at the 2025 PFF Summit in Chicago.
Image & quote taken by Senior Correspondent, Larry Luxner.
#RareDisease #PulmonaryFibrosis #MedSky
Image & quote taken by Senior Correspondent, Larry Luxner.
#RareDisease #PulmonaryFibrosis #MedSky
November 14, 2025 at 4:10 PM
#PFFSummit: Marilyn Glassberg, MD, professor at @loyolachicago.bsky.social’s Stritch School of Medicine, speaking Nov. 14 at the 2025 PFF Summit in Chicago.
Image & quote taken by Senior Correspondent, Larry Luxner.
#RareDisease #PulmonaryFibrosis #MedSky
Image & quote taken by Senior Correspondent, Larry Luxner.
#RareDisease #PulmonaryFibrosis #MedSky
#PFFSummit: Donna Dinkin, DrPH, a PFF patient ambassador with #Scleroderma-associated #InterstitialLungDisease (ILD), speaking Nov. 14 at the 2025 PFF Summit in Chicago.
Image & quote taken by Senior Correspondent, Larry Luxner.
#RareDisease #PulmonaryFibrosis #MedSky
Image & quote taken by Senior Correspondent, Larry Luxner.
#RareDisease #PulmonaryFibrosis #MedSky
November 14, 2025 at 3:25 PM
#PFFSummit: Donna Dinkin, DrPH, a PFF patient ambassador with #Scleroderma-associated #InterstitialLungDisease (ILD), speaking Nov. 14 at the 2025 PFF Summit in Chicago.
Image & quote taken by Senior Correspondent, Larry Luxner.
#RareDisease #PulmonaryFibrosis #MedSky
Image & quote taken by Senior Correspondent, Larry Luxner.
#RareDisease #PulmonaryFibrosis #MedSky
#PFFSummit: Karen Mancera-Cuevas, DrPH, senior director of health equity at the National Health Council, speaking Nov. 14 at the 2025 PFF Summit in Chicago.
Image & quote taken by Senior Correspondent, Larry Luxner.
#RareDisease #PulmonaryFibrosis #ClinicalTrial #PFF #MedSky
Image & quote taken by Senior Correspondent, Larry Luxner.
#RareDisease #PulmonaryFibrosis #ClinicalTrial #PFF #MedSky
November 14, 2025 at 3:13 PM
#PFFSummit: Karen Mancera-Cuevas, DrPH, senior director of health equity at the National Health Council, speaking Nov. 14 at the 2025 PFF Summit in Chicago.
Image & quote taken by Senior Correspondent, Larry Luxner.
#RareDisease #PulmonaryFibrosis #ClinicalTrial #PFF #MedSky
Image & quote taken by Senior Correspondent, Larry Luxner.
#RareDisease #PulmonaryFibrosis #ClinicalTrial #PFF #MedSky
🎨 “Rare Vision,” founded by Gabriela Romanow of @MassGeneralNews, brings together artists with rare neuroimmune disorders to showcase their work & support MGH’s Neuroimmunology Clinic.
Read the feature by Larry Luxner️ ➡️: https://bit.ly/3LBHDSx
#MedSky #RareDisease #NeuroimmuneDisorders
Read the feature by Larry Luxner️ ➡️: https://bit.ly/3LBHDSx
#MedSky #RareDisease #NeuroimmuneDisorders
'Rare Vision' Exhibit Showcases Artists With NMOSD and Similar Disorders
Money raised by the project, whose works are available online, benefits Massachusetts General Hospital's neuroimmunology clinic.
bit.ly
November 13, 2025 at 9:54 PM
🎨 “Rare Vision,” founded by Gabriela Romanow of @MassGeneralNews, brings together artists with rare neuroimmune disorders to showcase their work & support MGH’s Neuroimmunology Clinic.
Read the feature by Larry Luxner️ ➡️: https://bit.ly/3LBHDSx
#MedSky #RareDisease #NeuroimmuneDisorders
Read the feature by Larry Luxner️ ➡️: https://bit.ly/3LBHDSx
#MedSky #RareDisease #NeuroimmuneDisorders
💭 Alithea Athans, CAD Contributor, reflects on the emotional journey of living with a rare disease — and what it means to grieve your past self.
Read more ➡️ https://bit.ly/47WriPI
#ColdAgglutininDisease #CAD #RareDisease #RareVoices
Read more ➡️ https://bit.ly/47WriPI
#ColdAgglutininDisease #CAD #RareDisease #RareVoices
November 13, 2025 at 8:09 PM
💭 Alithea Athans, CAD Contributor, reflects on the emotional journey of living with a rare disease — and what it means to grieve your past self.
Read more ➡️ https://bit.ly/47WriPI
#ColdAgglutininDisease #CAD #RareDisease #RareVoices
Read more ➡️ https://bit.ly/47WriPI
#ColdAgglutininDisease #CAD #RareDisease #RareVoices
Nerve ultrasound is a “highly promising” tool for the differential diagnosis of inherited and acquired #DemyelinatingPolyneuropathies. Published in journal Neuropediatrics.
Read more: https://bit.ly/4qSnqId
#RareDisease #CIDP #Neurology #NerveUltrasound #MedSky
Read more: https://bit.ly/4qSnqId
#RareDisease #CIDP #Neurology #NerveUltrasound #MedSky
Nerve Ultrasound Still Seen as a Highly Promising Diagnostic Tool in CIDP
Nerve ultrasound is a "highly promising" tool for the differential diagnosis of inherited and acquired demyelinating polyneuropathies, according to researchers.
bit.ly
November 13, 2025 at 8:09 PM
Nerve ultrasound is a “highly promising” tool for the differential diagnosis of inherited and acquired #DemyelinatingPolyneuropathies. Published in journal Neuropediatrics.
Read more: https://bit.ly/4qSnqId
#RareDisease #CIDP #Neurology #NerveUltrasound #MedSky
Read more: https://bit.ly/4qSnqId
#RareDisease #CIDP #Neurology #NerveUltrasound #MedSky
A patient with a prostate-specific membrane antigen (#PSMA)-positive PET/CT findings was ultimately diagnosed with #SystemicMastocytosis (SM) rather than metastatic #ProstateCancer, according to a recently published case report.
Read here: https://bit.ly/43tRgJf
#RareDisease #MedSky
Read here: https://bit.ly/43tRgJf
#RareDisease #MedSky
Systemic Mastocytosis Can Mimic Metastatic Prostate Cancer: A Case Report
This report is the first documented case of PSMA expression in systemic mastocytosis, highlighting a potential diagnostic dilemma for clinicians.
bit.ly
November 13, 2025 at 5:33 PM
A patient with a prostate-specific membrane antigen (#PSMA)-positive PET/CT findings was ultimately diagnosed with #SystemicMastocytosis (SM) rather than metastatic #ProstateCancer, according to a recently published case report.
Read here: https://bit.ly/43tRgJf
#RareDisease #MedSky
Read here: https://bit.ly/43tRgJf
#RareDisease #MedSky
Gastrointestinal manifestations of immunoglobulin G4-related disease (#IgG4RD) have diverse pathological and endoscopic features, according to a study published in the Journal of Gastroenterology.
Learn more: https://bit.ly/48df2M0
#RareDisease #Gastroenterology #ImmunoglobulinG4RelatedDisease
Learn more: https://bit.ly/48df2M0
#RareDisease #Gastroenterology #ImmunoglobulinG4RelatedDisease
IgG4-RD Gastrointestinal Manifestations Have Diverse Pathological, Endoscopic Features
Twenty-four cases of IgG4-GID were identified; of these, 20 cases included IgG4-RD manifestations in organs other than those in the gastrointestinal system.
bit.ly
November 13, 2025 at 4:50 PM
Gastrointestinal manifestations of immunoglobulin G4-related disease (#IgG4RD) have diverse pathological and endoscopic features, according to a study published in the Journal of Gastroenterology.
Learn more: https://bit.ly/48df2M0
#RareDisease #Gastroenterology #ImmunoglobulinG4RelatedDisease
Learn more: https://bit.ly/48df2M0
#RareDisease #Gastroenterology #ImmunoglobulinG4RelatedDisease
Switching from #Rituximab to #Eculizumab as maintenance therapy for neuromyelitis optica spectrum disorder (#NMOSD) may reduce the frequency and duration of hospitalizations. Study in Neurology and Therapy.
Read here: https://bit.ly/3LKdPTL
#RareDisease #Neurology #MedSky #RareSky
Read here: https://bit.ly/3LKdPTL
#RareDisease #Neurology #MedSky #RareSky
Rituximab to Eculizumab Switch Could Reduce NMOSD Hospitalizations
Switching from rituximab to eculizumab as maintenance therapy for NMOSD may reduce the frequency and duration of hospitalizations.
bit.ly
November 13, 2025 at 3:08 PM
Switching from #Rituximab to #Eculizumab as maintenance therapy for neuromyelitis optica spectrum disorder (#NMOSD) may reduce the frequency and duration of hospitalizations. Study in Neurology and Therapy.
Read here: https://bit.ly/3LKdPTL
#RareDisease #Neurology #MedSky #RareSky
Read here: https://bit.ly/3LKdPTL
#RareDisease #Neurology #MedSky #RareSky
Emily Felt, PWS Contributor and mom to a 13-year-old with #PWS, shares how she’s found strength and joy in her caregiving journey.
Read more ➡️ https://bit.ly/47UzjVC
#PraderWilliSyndrome #PWS #RareDisease #Caregiver
Read more ➡️ https://bit.ly/47UzjVC
#PraderWilliSyndrome #PWS #RareDisease #Caregiver
November 12, 2025 at 9:07 PM
Emily Felt, PWS Contributor and mom to a 13-year-old with #PWS, shares how she’s found strength and joy in her caregiving journey.
Read more ➡️ https://bit.ly/47UzjVC
#PraderWilliSyndrome #PWS #RareDisease #Caregiver
Read more ➡️ https://bit.ly/47UzjVC
#PraderWilliSyndrome #PWS #RareDisease #Caregiver
#Linerixibat significantly reduces #Pruritus compared with placebo in patients with #PrimaryBiliaryCholangitis (PBC), according to results from the phase 3 clinical GLISTEN trial (#NCT04950127). Published in @lancetgastrohep.bsky.social
Read here: https://bit.ly/4oZ6tKk
#RareDisease #ClinicalTrial
Read here: https://bit.ly/4oZ6tKk
#RareDisease #ClinicalTrial
Linerixibat Significantly Reduces Pruritus in PBC
The GLISTEN trial tested the safety, efficacy, and impact of linerixibat on patients’ health-related quality of life compared with a placebo.
www.rarediseaseadvisor.com
November 12, 2025 at 8:01 PM
#Linerixibat significantly reduces #Pruritus compared with placebo in patients with #PrimaryBiliaryCholangitis (PBC), according to results from the phase 3 clinical GLISTEN trial (#NCT04950127). Published in @lancetgastrohep.bsky.social
Read here: https://bit.ly/4oZ6tKk
#RareDisease #ClinicalTrial
Read here: https://bit.ly/4oZ6tKk
#RareDisease #ClinicalTrial
Human leukocyte antigen (#HLA) genotyping enhances the prediction and prevention of fetal and neonatal alloimmune thrombocytopenia (#FNAIT), allowing clinicians to identify #Pregnancies at minimal risk and avoid unnecessary interventions.
Read more: https://bit.ly/4oFulTN
#RareDisease #MedSky
Read more: https://bit.ly/4oFulTN
#RareDisease #MedSky
HLA Genotyping Guides Safe FNAIT Risk Assessment and Maternal Care
HLA genotyping enables precise identification of HPA-1bb pregnant women at negligible risk for FNAIT, reducing unnecessary intervention.
bit.ly
November 12, 2025 at 7:03 PM
Human leukocyte antigen (#HLA) genotyping enhances the prediction and prevention of fetal and neonatal alloimmune thrombocytopenia (#FNAIT), allowing clinicians to identify #Pregnancies at minimal risk and avoid unnecessary interventions.
Read more: https://bit.ly/4oFulTN
#RareDisease #MedSky
Read more: https://bit.ly/4oFulTN
#RareDisease #MedSky
Pulmonary rehabilitation significantly enhances exercise tolerance and quality of life in patients with #ProgressivePulmonaryFibrosis (#PPF), according to a meta-analysis of 33 clinical studies involving 1671 individuals with #InterstitialLungDisease (#ILD).
Read here: https://bit.ly/43pV0v8
Read here: https://bit.ly/43pV0v8
Pulmonary Rehabilitation Improves Function in Progressive Pulmonary Fibrosis
Pulmonary rehabilitation improved exercise endurance and quality of life in patients with progressive pulmonary fibrosis (PPF).
bit.ly
November 12, 2025 at 5:51 PM
Pulmonary rehabilitation significantly enhances exercise tolerance and quality of life in patients with #ProgressivePulmonaryFibrosis (#PPF), according to a meta-analysis of 33 clinical studies involving 1671 individuals with #InterstitialLungDisease (#ILD).
Read here: https://bit.ly/43pV0v8
Read here: https://bit.ly/43pV0v8
New or worsening #Anemia within 12 weeks of #Ruxolitinib initiation was associated with significantly increased mortality in patients with #Myelofibrosis (MF), despite comparable spleen outcomes and only modest dose reductions.
Read here: https://bit.ly/4owqnN7
#RareDisease #MedSky
Read here: https://bit.ly/4owqnN7
#RareDisease #MedSky
Ruxolitinib-Linked Anemia Worsens Survival in Myelofibrosis
New or worsening anemia within 12 weeks of ruxolitinib initiation was linked to a 57% higher mortality risk in myelofibrosis (MF).
bit.ly
November 12, 2025 at 5:06 PM
New or worsening #Anemia within 12 weeks of #Ruxolitinib initiation was associated with significantly increased mortality in patients with #Myelofibrosis (MF), despite comparable spleen outcomes and only modest dose reductions.
Read here: https://bit.ly/4owqnN7
#RareDisease #MedSky
Read here: https://bit.ly/4owqnN7
#RareDisease #MedSky
Patients with acetylcholine receptor antibody-negative #MyastheniaGravis may experience more HRQoL problems than patients who are AChR antibody positive. Presented at American Association of Neuromuscular & Electrodiagnostic Medicine Annual Meeting
Read more: https://bit.ly/47QWEXX
Read more: https://bit.ly/47QWEXX
Patients With AChR-Negative MG May Experience More Severe Disease
Patients with AChR antibody-negative MG tended to have more problems than patients with AChR antibody-positive MG.
bit.ly
November 12, 2025 at 3:45 PM
Patients with acetylcholine receptor antibody-negative #MyastheniaGravis may experience more HRQoL problems than patients who are AChR antibody positive. Presented at American Association of Neuromuscular & Electrodiagnostic Medicine Annual Meeting
Read more: https://bit.ly/47QWEXX
Read more: https://bit.ly/47QWEXX
💭 “Should patients with HAE get vaccinated?”
In her latest column, #HAE Contributor Aysha Bagley shares how self-education and connection help her manage #HereditaryAngioedema (HAE).
Read here➡️ https://bit.ly/43oaYpJ
#RareDisease #PatientAdvocacy #RareSky
In her latest column, #HAE Contributor Aysha Bagley shares how self-education and connection help her manage #HereditaryAngioedema (HAE).
Read here➡️ https://bit.ly/43oaYpJ
#RareDisease #PatientAdvocacy #RareSky
November 11, 2025 at 9:05 PM
💭 “Should patients with HAE get vaccinated?”
In her latest column, #HAE Contributor Aysha Bagley shares how self-education and connection help her manage #HereditaryAngioedema (HAE).
Read here➡️ https://bit.ly/43oaYpJ
#RareDisease #PatientAdvocacy #RareSky
In her latest column, #HAE Contributor Aysha Bagley shares how self-education and connection help her manage #HereditaryAngioedema (HAE).
Read here➡️ https://bit.ly/43oaYpJ
#RareDisease #PatientAdvocacy #RareSky
#GeneTherapy with fidanacogene eleparvovec is useful for improving the overall health and functional status of patients with #HemophiliaB, in addition to elevating health-related quality of life parameters. Study in @jthjournal.bsky.social
Read more: https://bit.ly/47Orssr
#RareDisease #Hemophilia
Read more: https://bit.ly/47Orssr
#RareDisease #Hemophilia
Fidanacogene Eleparvovec Improves Clinical Parameters in Hemophilia
Gene therapy remains a promising therapeutic innovation in the management of patients diagnosed with hemophilia.
bit.ly
November 11, 2025 at 7:55 PM
#GeneTherapy with fidanacogene eleparvovec is useful for improving the overall health and functional status of patients with #HemophiliaB, in addition to elevating health-related quality of life parameters. Study in @jthjournal.bsky.social
Read more: https://bit.ly/47Orssr
#RareDisease #Hemophilia
Read more: https://bit.ly/47Orssr
#RareDisease #Hemophilia
A case study has been reported describing a patient with neurofibromatosis type 1 (#NF1) who developed a rare, unusually wide range of both NF1-related and -unrelated tumors.
Read more: https://bit.ly/47P8B0x
#RareDisease #NeurofibromatosisType1 #MedSky
Read more: https://bit.ly/47P8B0x
#RareDisease #NeurofibromatosisType1 #MedSky
Case Study: Patient With NF1 Develops NF1-Related, NF1-Unrelated Tumors
In addition to the patient's unusual NF1-related and -unrelated tumors, she exhibited typical NF1-linked disease manifestations.
bit.ly
November 11, 2025 at 6:54 PM
A case study has been reported describing a patient with neurofibromatosis type 1 (#NF1) who developed a rare, unusually wide range of both NF1-related and -unrelated tumors.
Read more: https://bit.ly/47P8B0x
#RareDisease #NeurofibromatosisType1 #MedSky
Read more: https://bit.ly/47P8B0x
#RareDisease #NeurofibromatosisType1 #MedSky