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Rare Disease Advisor Trusted knowledge base of resources & information, focused on treating & diagnosing .

Rare Disease Advisor is an online resource that provides health care professionals with comprehensive information on important principles of care in rare diseases as well as up-to-date clinical news on the diagnosis and treatment of these conditions. Website features include:

• Daily news
• Feature articles on key issues in rare disease
• Live conference coverage
• Expert opinion articles, includ

ing exclusive guest editorials from leading rare disease experts
• Concise drug monographs
• Medical slideshows
• Videos
• Continuing medical education (CME) activities
• And more...


Coverage of the following Rare Diseases:

Cardiology:
Long Chain Fatty Acid Oxidation Disorder (LCFAOD)
Pompe Disease

Gastroenterology:
Gastrointestinal Stromal Tumor (GIST)

Hematology:
Hemophilia
Sickle Cell Disease (SCD)
Systemic Mastocytosis (SM)

Hepatology:
Alagille Syndrome (ALGS)
Lysosomal Acid Lipase Deficiency (LAL-D)

Immunology:
Cold Agglutinin Disease (CAD or CAgD)
Hereditary Angioedema (HAE)
Myasthenia Gravis (MG)

Neurology:
Duchenne Muscular Dystrophy (DMD)
Multiple Sclerosis (MS)
Spinal Muscular Atrophy (SMA)
Hereditary Transthyretin Amyloidosis (hATTR)
Neuromyelitis Optica Spectrum Disorder (NMOSD)

Oncology:
Cholangiocarcinoma (CCA)
Medullary Thyroid Carcinoma (MTC)
Diffuse Large B-Cell Lymphoma (DLBCL)

Pulmonology:
Alpha-1 Antitrypsin Deficiency (AATD)
Cystic Fibrosis (CF)
Idiopathic Pulmonary Fibrosis (IPF)
Pulmonary Arterial Hypertension (PAH)

Cognitive impairment is a common manifestation of ; however, early diagnosis and prompt treatment can mitigate its effe...
22/11/2025

Cognitive impairment is a common manifestation of ; however, early diagnosis and prompt treatment can mitigate its effects.

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Cognitive impairment is a common manifestation of NMOSD; however, early diagnosis and prompt treatment can mitigate its effects.

(MDS) were independently associated with substantially elevated risks of ischemic heart disease (IHD), stroke, heart f...
21/11/2025

(MDS) were independently associated with substantially elevated risks of ischemic heart disease (IHD), stroke, heart failure (HF), atrial fibrillation (AF), and a composite cardiovascular outcome in a nationwide Japanese cohort, according to a study published in the Canadian Journal of Cardiology (Canadian Cardiovascular Society).

Learn more: https://bit.ly/4rm3YnF

MDS independently increased risks of ischemic heart disease, stroke, heart failure, atrial fibrillation, and composite CVD, a study found.

Respiratory failure, a classic complication of (MG), also continues to have a growing impact on patient survival.Read ...
21/11/2025

Respiratory failure, a classic complication of (MG), also continues to have a growing impact on patient survival.

Read here:

Vascular disease appears to be a rising cause of death among patients with myasthenia gravis (MG), according to a new study.

Investigators have found that baseline T-cell activation patterns may predict which patients with immunoglobulin G4-rela...
21/11/2025

Investigators have found that baseline T-cell activation patterns may predict which patients with immunoglobulin G4-related disease ( ) are more likely to respond to , according to a letter to the editor in the European Journal of Internal Medicine.

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New research showed that patients with rare variants affecting the CTLA-4 pathway were more likely to respond to abatacept than those without the variants.

Researchers developed a well-designed natural language processing (NLP) algorithm that can accurately extract (SM)-rel...
21/11/2025

Researchers developed a well-designed natural language processing (NLP) algorithm that can accurately extract (SM)-related symptoms from unstructured clinical notes, as highlighted in a recent study published in JAMIA Open (AMIA).

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Researchers developed a natural language processing algorithm that can accurately extract SM-related symptoms from unstructured clinical notes.

Screening and preventive strategies for both hepatitis B virus ( ) and latent tuberculosis infection ( ) are needed in t...
20/11/2025

Screening and preventive strategies for both hepatitis B virus ( ) and latent tuberculosis infection ( ) are needed in the management of neuromyelitis optica spectrum disorder ( ), according to a recent study published in Multiple Sclerosis and Related Disorders Journal.

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Screening strategies for both HBV and latent tuberculosis infection (LTBI) are needed in NMOSD management.

Patients with chronic inflammatory demyelinating polyneuropathy ( ) have reduced sleep efficacy and increased nocturnal ...
20/11/2025

Patients with chronic inflammatory demyelinating polyneuropathy ( ) have reduced sleep efficacy and increased nocturnal arousals, according to a new study in the European Journal of Neurology.

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Patients with chronic inflammatory demyelinating polyneuropathy (CIDP) have reduced sleep efficacy and increased nocturnal arousals, according to a new study.

An antimalarial drug, (DHA), may restore antitumor activity of (DOX) in patients with (HCC) with DOX resistance, a...
20/11/2025

An antimalarial drug, (DHA), may restore antitumor activity of (DOX) in patients with (HCC) with DOX resistance, according to findings published in Digestive Diseases and Sciences.

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In preclinical cell and animal models, DHA and DOX were effective against HCC progression, and their combined use amplified these effects.

Vaccination and cancer screening uptake improved over time among patients with chronic lymphocytic leukemia ( ) who repe...
20/11/2025

Vaccination and cancer screening uptake improved over time among patients with chronic lymphocytic leukemia ( ) who repeatedly completed annual health maintenance questionnaires, despite marked post-pandemic declines in several preventive care domains, according to a study that will be presented at the 67th American Society of Hematology Annual Meeting and Exposition held December 6 to 9, 2025, in Orlando, FL.

Read more: https://bit.ly/48qMBKM

Annual surveys with reminders improved several vaccination and cancer screening rates in CLL despite post-pandemic declines.

The severity of fetal and neonatal alloimmune thrombocytopenia ( ) is driven by overall antihuman platelet antigen 1a (H...
19/11/2025

The severity of fetal and neonatal alloimmune thrombocytopenia ( ) is driven by overall antihuman platelet antigen 1a (HPA-1a) antibody reactivity and integrin conformation rather than exclusive endothelial targeting, according to recent findings from a study published in Blood (American Society of Hematology).

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New research suggests FNAIT severity is driven by overall anti-HPA-1a antibody reactivity and integrin conformation, not exclusive endothelial targeting.

Treatment with leads to rapid, sustained, and reproducible responses in clinically relevant biomarkers of fibrosis and...
19/11/2025

Treatment with leads to rapid, sustained, and reproducible responses in clinically relevant biomarkers of fibrosis and cholestasis in primary biliary cholangitis ( ), according to results from the open-label extension of a phase 3 clinical trial called .

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Elafibranor leads to rapid, sustained, and reproducible responses in clinically relevant biomarkers of fibrosis and cholestasis in PBC, according to a clinical trial.

Significant dilation of the aortic valve annulus (AVA) is common in , often accompanied by a reduced motion of the valv...
19/11/2025

Significant dilation of the aortic valve annulus (AVA) is common in , often accompanied by a reduced motion of the valve ring, according to a Hungarian study published in the Journal of Clinical Medicine MDPI.

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Increased global LV circumferential strain was observed in patients with active acromegaly vs inactive disease or healthy controls.

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