Resources and expertise that help solve the unique challenges of rare disease research

Expertise in Rare Diseases

Mapi’s rare disease expertise includes in-depth experience working with the following diseases:

  • Cushing’s Syndrome
  • Duchenne’s Muscular Dystrophy
  • Progressive Multifocal Leukoencephalopathy
  • Niemann-Pick type C disease
  • Metastatic colorectal cancer (mCRC) – patients with mutant KRAS tumors
  • Malignant glioma
  • Short Bowel Syndrome
  • Dupuytren’s Contracture
  • Achondroplasia
  • Multiple Myeloma
  • Transfusion-dependent anaemia due to myelodysplastic syndrome
  • Insulin-like Growth Factor – 1 Deficiency
  • Idiopathic Pulmonary Fibrosis
  • Hepatic Encephalopathy in patients with Liver Cirrhosis
  • Chronic Hypoparathyroidism
  • N-Acetylglutamate Synthase deficiency
  • Vitreomacular traction, including macular hole
  • Lipoprotein Lipase Deficiency
  • Cystic Fibrosis
  • Phenylketonuria (PKU)
  • Pediatric Inflammatory Bowel disease
  • Nephropathic Cystinosis
  • Dystrophinopathies
  • Hypophosphatasia
  • Hemophilia
  • Mucopolysaccharidosis (MPS_1)
  • Multiple Sclerosis
  • Acromegaly
  • Pediatric Narcolepsy
  • Systematic lupus erythematosus nephritis
  • Chronic kidney disease
  • Hereditary angioedema
  • Fontan circulation
  • Fabry’s disease
  • Metastatic soft-tissue sarcoma
  • Sanfilippo Syndrome

Case Study: Phenylketonuria