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