Rare Disease Advisor

  • Home
  • Rare Disease Advisor

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)

"I was supposed to be dead by now, or so statistics said." - Ed Tobias, MS ContributorRead More: https://bit.ly/4oyEfqB ...
13/08/2025

"I was supposed to be dead by now, or so statistics said." - Ed Tobias, MS Contributor

Read More: https://bit.ly/4oyEfqB

Although much has changed in the treatment of multiple sclerosis (MS), information about patient life expectancy has not been updated.

Nipocalimab shows promise for improving pregnancy safety and neonatal outcomes in both hemolytic disease of the fetus an...
13/08/2025

Nipocalimab shows promise for improving pregnancy safety and neonatal outcomes in both hemolytic disease of the fetus and newborn ( ) and fetal and neonatal alloimmune thrombocytopenia ( ) by blocking the neonatal Fc receptor. International Society for Prenatal Diagnosis and Prenatal Diagnosis Journal

Read More: https://bit.ly/46QAztV

Nipocalimab shows promise for improving pregnancy safety and neonatal outcomes in both HDFN and FNAIT by blocking the neonatal Fc receptor.

The combination therapy of pozelimab and cemdisiran resulted in adequate hemolysis control in patients with (PNH), acc...
13/08/2025

The combination therapy of pozelimab and cemdisiran resulted in adequate hemolysis control in patients with (PNH), according to a study published in eJHaem.

Read More: https://bit.ly/3Hntzuc

A phase 2 study showed favorable findings with pozelimab and cemdisiran combination therapy in PNH.

"Having (CAD), a form of autoimmune hemolytic anemia that is cold reactive, makes managing pain difficult." - Alithea ...
13/08/2025

"Having (CAD), a form of autoimmune hemolytic anemia that is cold reactive, makes managing pain difficult." - Alithea Athans, CAD Contributor

Read More: https://bit.ly/45vbwKv

Having cold agglutinin disease (CAD), a form of autoimmune hemolytic anemia that is cold reactive, makes managing pain difficult. When we are burned, have

Espervita Therapeutics, Inc. announced that its investigational medication EVT0185 significantly reduced tumor burden in...
13/08/2025

Espervita Therapeutics, Inc. announced that its investigational medication EVT0185 significantly reduced tumor burden in 3 preclinical models of metabolic dysfunction-associated steatohepatitis (MASH)-driven (HCC).

Read More: https://bit.ly/3UnbcIK

Encouraging preclinical data were announced for the investigational medication EVT0185 in hepatocellular carcinoma (HCC).

Earlier recognition of attenuated lysosomal storage disorders (LSDs), including (GD), may be achieved when clinicians ...
12/08/2025

Earlier recognition of attenuated lysosomal storage disorders (LSDs), including (GD), may be achieved when clinicians actively investigate unexplained, subtle, and multisystem manifestations in adults, according to a study published in Genes MDPI.

Read More: https://bit.ly/4fyLHxT

Attenuated lysosomal storage disorders often present in adulthood with subtle cardiovascular, neurological, and respiratory findings that delay recognition.

Elevated levels of interleukin-10 (IL-10) in cerebrospinal fluid (CSF) may serve as a diagnostic biomarker in primary ce...
12/08/2025

Elevated levels of interleukin-10 (IL-10) in cerebrospinal fluid (CSF) may serve as a diagnostic biomarker in primary central nervous system lymphoma ( ). Cureus Journal of Medical Science

Read More: https://bit.ly/45hOvvW

Cerebral spinal fluid levels of IL-10 may serve as a sensitive diagnostic biomarker in primary central nervous system lymphoma (PCNSL).

A composite measure of lung function, imaging, and blood biomarkers holds promise to improve the prediction of mortality...
12/08/2025

A composite measure of lung function, imaging, and blood biomarkers holds promise to improve the prediction of mortality in (IPF), according to results of a recent study published in BMC Pulmonary Medicine.

Read More: https://bit.ly/4ltkcHo

A composite measure of lung function, imaging, and blood biomarkers holds promise to improve prediction of mortality in IPF.

Surgery for individuals with should involve meticulous preoperative preparation with a coordinated multidisciplinary t...
12/08/2025

Surgery for individuals with should involve meticulous preoperative preparation with a coordinated multidisciplinary team and the use of specialized equipment for positioning, according to a case report published recently in the Journal of Perioperative Practice (AfPP).

Read More: https://bit.ly/45rqRf6

Surgery for patients with achondroplasia should involve careful preoperative preparation and the use of specialized positioning equipment.

Currently available treatments slow the progression of kidney and heart disease associated with , according to a system...
11/08/2025

Currently available treatments slow the progression of kidney and heart disease associated with , according to a systematic review of the literature. Journal of Clinical Medicine MDPI

Read More: https://bit.ly/3J7Sum5

Currently available treatments slow the progression of kidney and heart disease associated with Fabry disease, a study found.

11/08/2025

was not superior to conventional treatment strategies in inducing remission among patients with eosinophilic granulomatosis with polyangiitis ( ), a subtype of antineutrophil cytoplasmic antibody (ANCA)–associated vasculitis ( ), according to a study published in the Annals of Internal Medicine.

Read More: https://bit.ly/46ROT5k

Rituximab did not significantly improve remission rates compared with conventional therapy in patients with eosinophilic granulomatosis with polyangiitis.

Interleukin-36G (IL-36G) signaling contributes directly to the pathogenesis and sex-specific features of (GPP), with k...
11/08/2025

Interleukin-36G (IL-36G) signaling contributes directly to the pathogenesis and sex-specific features of (GPP), with key findings suggesting that targeting this pathway may offer therapeutic benefits, particularly for women. JID Journals

Read More: https://bit.ly/4mDhpfH

Female keratinocytes exhibited a stronger IL-36-driven pro-inflammatory transcriptional response in generalized pustular psoriasis (GPP).

Address


Website

Alerts

Be the first to know and let us send you an email when Rare Disease Advisor posts news and promotions. Your email address will not be used for any other purpose, and you can unsubscribe at any time.

Contact The Business

Send a message to Rare Disease Advisor:

Shortcuts

  • Address
  • Alerts
  • Contact The Business
  • Claim ownership or report listing

  • Want your business to be the top-listed Media Company?

Share