Rare Disease Advisor

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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)

Despite the widespread use of various (FMH) testing methods, significant limitations persist in test accuracy, accessi...
19/07/2025

Despite the widespread use of various (FMH) testing methods, significant limitations persist in test accuracy, accessibility, and standardization across laboratories, according to findings from a recent study published in the British Journal of Haematology (British Society for Haematology).

Read More: https://bit.ly/44SWM85

Despite widespread testing of fetomaternal hemorrhage, major limitations remain in accuracy, accessibility, and standardization.

It is essential to ensure there is enough time to plan for pregnancy, provide genetic counseling, and optimize health st...
18/07/2025

It is essential to ensure there is enough time to plan for pregnancy, provide genetic counseling, and optimize health status in patients with (FA), according to a case series and literature review published in the International Journal of Gynecology and Obstetrics.

Read More: https://bit.ly/4m0zuUu

It is essential to ensure enough time to plan for pregnancy, provide genetic counseling, and optimize health status in patients with FA, a study found.

Despite relatively stable age-standardized rates, the global burden of psoriasis, including the rare, severe subtype of ...
18/07/2025

Despite relatively stable age-standardized rates, the global burden of psoriasis, including the rare, severe subtype of (GPP), has markedly increased over the last 3 decades and is expected to continue rising, especially in higher-income settings, according to a study published in Frontiers in Public Health.

Read More: https://bit.ly/40TkQGA

Psoriasis, including GPP, continues to place a disproportionate burden on high-SDI regions despite stable age-standardized rates.

Patients with chronic inflammatory demyelinating polyneuropathy ( ) and disability have a significantly higher economic ...
18/07/2025

Patients with chronic inflammatory demyelinating polyneuropathy ( ) and disability have a significantly higher economic burden than those without disability, according to a new study published in the scientific journal Value in Health (ISPOR—The Professional Society for Health Economics and Outcomes Research).

Read More: https://bit.ly/3UoDqm8

Patients with CIDP and disability have a significantly higher economic burden than those without disability.

Filtered-sunlight phototherapy (FSPT) is a safe and efficacious treatment for moderate-to-severe neonatal hyperbilirubin...
18/07/2025

Filtered-sunlight phototherapy (FSPT) is a safe and efficacious treatment for moderate-to-severe neonatal hyperbilirubinemia, with noninferiority to intensive electric phototherapy (IEPT), according to a study published in Pediatric Research (American Pediatric Society). is a common complication of hemolytic disease of the fetus and newborn ( ).

Read More: https://bit.ly/3TJu847

Filtered-sunlight phototherapy is safe and effective in neonatal hyperbilirubinemia, with no significant difference in efficacy from electric phototherapy.

T-cell diversity is reduced in relapsed/refractory diffuse large B-cell lymphoma ( ), according to results published in ...
17/07/2025

T-cell diversity is reduced in relapsed/refractory diffuse large B-cell lymphoma ( ), according to results published in eJHaem (British Society for Haematology).

Read More: https://bit.ly/46TH9Q6

T-cell diversity is reduced in patients with relapsed or refractory diffuse large B-cell lymphoma (DLBCL), weakening the immune response.

"The community is strong simply due to the fact that we all have one thing in common that bonds us. This is something ...
17/07/2025

"The community is strong simply due to the fact that we all have one thing in common that bonds us. This is something that, until recently, I’ve never taken advantage of, but it can lead to great opportunities." - Domenic Catrine, Hemophilia Contributor

Hemophilia Association of New Jersey, The Coalition for Hemophilia B

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

The hemophilia community is strong, simply due to the fact that we all have one thing in common that bonds us together.

Pediatric mastocytosis displayed distinct genetic differences between cutaneous and systemic forms, with pathogenic non-...
17/07/2025

Pediatric mastocytosis displayed distinct genetic differences between cutaneous and systemic forms, with pathogenic non-KIT myeloid mutations notably more frequent in (SM), according to a next-generation sequencing study of peripheral blood from 69 patients published in the British Journal of Haematology (British Society for Haematology).

Read More: https://bit.ly/4m32Di4

Pathogenic non-KIT myeloid mutations were predominantly detected in children with systemic mastocytosis (SM).

A recently published letter to the editor commended the findings of a study examining the link between (PBC) and (IB...
17/07/2025

A recently published letter to the editor commended the findings of a study examining the link between (PBC) and (IBS), and offered recommendations for future research. The letter was published in the International Journal of Surgery.

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

Researchers weigh in on the findings of a study examining the link between PBC and IBS, offering recommendations for future investigations.

A genetic predisposition to (RA) and (IBD) may be causally associated with an increased risk of (PAH), according t...
16/07/2025

A genetic predisposition to (RA) and (IBD) may be causally associated with an increased risk of (PAH), according to a new study published in Global Heart (World Heart Federation).

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

Researchers identified a possible genetic causative link between rheumatoid arthritis and inflammatory bowel disease and an increased risk of PAH.

A middle-aged man was diagnosed with (SC) associated with immunoglobulin G4-related disease (IgG4-RD) after being init...
16/07/2025

A middle-aged man was diagnosed with (SC) associated with immunoglobulin G4-related disease (IgG4-RD) after being initially investigated for primary sclerosing cholangitis and cholangiocarcinoma. This case report was published in Cureus Journal of Medical Science.

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

A middle-aged male patient was diagnosed with IgG4-related sclerosing cholangitis after investigations failed to detect malignancy.

Children with (ALL) are highly susceptible to developing non-thyroidal illness syndrome ( ), particularly following in...
16/07/2025

Children with (ALL) are highly susceptible to developing non-thyroidal illness syndrome ( ), particularly following induction chemotherapy, according to findings of a prospective study recently published in Scientific Reports.

Read More: https://bit.ly/44MaHwr

Children with ALL are highly susceptible to developing non-thyroidal illness syndrome, particularly following induction chemotherapy.

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