Rare Disease Day 2021

Sunday, 28th February

There are over 6000 rare diseases, with approximately 300 million people living with a rare disease worldwide. Many rare diseases are chronic, progressive, degenerative, disabling and life threatening. Due to the rarity of each individual disease, expertise and information is scarce. Most rare diseases have no cure and limited treatments are available.

Acaster Lloyd Consulting acknowledge the importance of research into the treatment of rare diseases and would like to help spread awareness this #rarediseaseday.

We are proud to have supported many successful submissions in rare diseases, as well as helping to find some solutions to the methodological challenges that working in rare diseases can bring. In 2020 alone, we undertook 20 projects in rare diseases. In recent years, we have conducted prospective research in a range of rare diseases, including:

  • Fabry disease
  • Spinal Muscular Atrophy
  • X-linked hypophosphatemia
  • RPE65 inherited retinal diseases
  • Hypophosphatasia
  • Duchenne Muscular Dystrophy
  • X-Linked Myotubular Myopathy
  • Atypical Hemolytic Uremic Syndrome
  • Paroxysmal nocturnal hemoglobinuria
  • Metachromatic Leukodystrophy
  • Familial Chylomicronemia Syndrome
  • Neurofibromatosis Type 1 (NF-1)
  • Short-Lasting Unilateral Neuralgiform Headache Attacks
  • Hereditary Angioedema
  • Acute Myeloid Leukemia
  • Dravet syndrome
  • Tuberous Sclerosis Complex (TSC)
  • Lennox-Gastaut Syndrome
  • Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency