List of rare diseases in stem-cells

The article ignited more enthusiasm to start to correlate with the field of stem-cell research i.e. whether the stem-cell community has focused any research on the rare diseases or not.

Though there are no direct research efforts on this area, however, some labs have focused on the rare diseases aspects while concentrating on stem-cell transplantation especially haematopoietic stem-cells and the associated lymphoma’s /leukemia’s

This is the list of diseases currently covered:


-Acute myeloid leukaemia (AML)
-FGFR1 tyrosine kinase gene – Myelo Proliferative Disorders (MPD)
-Fanconi anaemia
-Paroxysmal nocturnal hemoglobinuria (PNH)
-Childhood chronic myeloid leukemia (CML),
-Plasma cell leukemia
-Childhood myelodysplastic syndrome (MDS)
-Primary familial and congenital polycythaemia (PFCP)
-Infants primary hemophagocytic lymphohistiocytosis (HLH),
-Urothelium carcinomas
-Diamond Blackfan anemia (DBA)
-Primary mediastinal large B-cell non-Hodgkin's lymphoma
-Hepatosplenic T-cell lymphoma
-Aspergillus tracheobronchitis
-De novo erythroleukemia (EL)
-Granulocytic sarcoma (GS),
-Chronic granulocytic leukaemia (CGL)
-Primary cardiac myxosarcoma
-T-prolymphocytic leukemia (T-PLL)
-Congenital amegakaryocytic thrombocytopenia (CAMT)
-Thrombotic thrombocytopenic purpura (TTP)
-Juvenile systemic scleroderma (jSSc)
-Nasal natural killer (NK)/T-cell lymphoma
-The thrombocytopenia and absent radii (TAR)
-Rothmund-Thomson syndrome
-congenital erythropoietic porphyria
-Adults Acute lymphoblastic leukaemia
-Adult B/L3-acute lymphoblastic leukemia
- Juvenile chronic myelomonocytic leukemia (JCMMoL)
-Basophilic leukemia
-Amyloidosis
-juvenile metachromatic leukodystrophy
-T-cell post-transplant lymphoproliferative disorder/lymphoma.
- Rare pediatric cancer- Neuroblastoma
-Juvenile myelomonocytic leukemia (JMML)
-Anaplastic large-cell lymphoma, T-/null-cell type (ALCL),
-malignant infantile osteopetrosis (MIOP),
-hypereosinophilic syndrome
-Polycythemia vera (PV)
-Nephrogenic fibrosing dermopathy
-lymphocytic bronchiolitis
-Adolescent-onset and adult-onset esthesioneuroblastoma
-Gaucher disease
-Mastocytosis
-sphingolipid activator proteins (SAPs)


While referring these diseases I am getting 2 questions, irresistibly:

1) Whether Bone marrow-derived cells (BMDCs) have any role in rare- diseases?

2) Whether the stem-cell niches may varies between diseases to disease or just follow the same niche / micro environment which is followed by the common cancer/ or normal cellular microenvironment? The questions came after reading number of stem-cell niches.

Thanks for your discussion.

rare diseases

In a bookshop I got an attention on an unusual topic in an unusual magazine, recently. The name of the magazine is called Forbes and topic is ‘How Novartis aims to reap billions of dollars in sales by focusing on big drug makers ignored rare diseases’.


'....When rheumatologist Timothy Wright joined Novartis (nyse: NVS - news - people ) in 2004 his first project was to rejuvenate an experimental arthritis drug. It was viewed lukewarmly in the lab because a similar drug from Amgen (nasdaq: AMGN - news - people ) had been a commercial flop.

Wright proposed testing the drug in patients with a disease so rare that some of his superiors had never heard of it: Muckle-Wells syndrome. At most a couple of thousand patients worldwide have the inherited disorder, which causes recurring fevers, rashes, joint pain and kidney damage. University researchers had just pinpointed a source: a bad gene that causes the body to produce an oversupply of interleukin-1, an immune system protein.....'


Please follow the link, for the complete article


Tips for opening the page:

after the link has open, please select the first one which goes as follows:

Big Bucks - Forbes.com
For years big drugmakers ignored rare diseases. Now Novartis aims to reap billions of dollars in sales by focusing on them.members.forbes.com/forbes/2007/0521/060.html - 57k - Cached - Similar pages


You can click either the main link itself or the link, 'cached'!