Tackling rare diseases is no longer a far away frontier; great strides have been taken in the treatment options for rare diseases, including advanced genetic therapies, such as viral mediated gene transfer and CAR-T therapies.
Key Rare Diseases Covered:
- Neurology
- Lennox-Gastaut syndrome
- Spinal muscular atrophy
- Acute repetitive seizures
- Amyotrophic lateral sclerosis
- Friedrich’s ataxia
- Huntington’s disease
- Poly-Q diseases
- Fragile-X syndrome
- Myasthenia gravis
- Dravet syndrome
- Duchenne muscular dystrophy
- Rheumatology
- Behcet’s disease
- Juvenile idiopathic arthritis
- Systemic sclerosis
- Adult onset Still’s disease
- Giant cell arteritis
- Hematology
- Paroxysmal nocturnal hemoglobinuria (PNH)
- Essential thrombocythemia
- Atypical hemolytic uremic syndrome
- Wiskott-Aldrich syndrome
- Thrombotic thromboyctopenic purpura (TTP)
- Hemophilia
- Sickle cell disease
- Immune thrombocytopenia (ITP)
- Cold agglutinin disease
- Metabolic
- Homozygous familial hypercholesterolemia (HoFH)
- Niemann pick disease
- Adrenoleukodystrophy
- Wiskott-Aldrich syndrome
- Cushing syndrome
- Hemophilia
- Pompe disease
- Hunter syndrome
- Mucopolysaccharidosis
- Fabry’s disease
- Carbamoyl-phosphate synthase-1 deficiency
- Oncology
- Metastatic melanoma
- Mantle cell lymphoma
- Peripheral t-cell lymphoma
- Acute lymphoblastic leukemia
- Hodgkin lymphoma
- CML
- Myelodysplastic syndromes
- Small cell lung cancer
- AML
- mRCC
- Waldenström macroglobulinemia
- Relapse refractory multiple myeloma
- Mesothelioma
- Ophthalmology
- Retinitis pigmentosa
- X-linked juvenile retinoschisis (XLRS)
- Choroideremia (CHM)
- Neuromyelities optica
- Lever hereditary optic neuropathy
- Stargardt’s disease
- Nephrology
- Membranous glomerulonephritis
- C3 glomerulopathy
- Polycystic kidney disease
- Lupus nephritis
- Focal segmental glomerulosclerosis
- Others
- aGvHD/cGvHD
- Cystic fibrosis
- X-linked chronic granulomatous disease
- Idiopathic pulmonary fibrosis
- Kawasaki disease
- Primary sclerosing cholangitis
