Institute for rare diseases
Rare diseases and orphan drugs - news and analyses
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Featured posts

XIV National Conference on Rare Diseases and Orphan Drugs

06/04/2023
by informer 06/04/2023

Veselina Kmetska – winner of the audience in the photo contest “Rare Nuances in The Colours of Life”

19/03/2023
by informer 19/03/2023

Hris-Maria Slavova – the big winner of the photo contest “Rare Nuances in The Colours of Life”

18/03/2023
by informer 18/03/2023

Teodora Gencheva – ranked second in the photo contest “Rare Nuances in The Colours of Life”

17/03/2023
by informer 17/03/2023
View All

Latest news

Role of Early Intravenous Immunoglobulins in Halting Clinical and Radiographic Disease Progression in Rasmussen Encephalitis

05/06/2023
by informer 05/06/2023

Diamond-Blackfan anemia in adults: In pursuit of a common approach for a rare disease

02/06/2023
by informer 02/06/2023

Challenges and strategies for clinical trials in propionic and methylmalonic acidemias

31/05/2023
by informer 31/05/2023

Clinical Manifestations, Current and Future Therapy, and Long-Term Outcomes in Congenital Thrombotic Thrombocytopenic Purpura

29/05/2023
by informer 29/05/2023

Caroli syndrome associated with atrial septal defect and polydactyly

26/05/2023
by informer 26/05/2023

Expanding the phenotype and genotype in Thauvin-Robinet-Faivre syndrome

24/05/2023
by informer 24/05/2023

A Case of Recessive Dystrophic Epidermolysis Bullosa Associated Colitis

22/05/2023
by informer 22/05/2023

A rare case of concurrent pneumonia, rib osteomyelitis, spondylodiscitis, paravertebral and epidural abscesses in a patient with chronic granulomatous disease

18/05/2023
by informer 18/05/2023

Hereditary angioedema in cardiac surgery: Perioperative management

16/05/2023
by informer 16/05/2023

Neonatal autoimmune lymphoproliferative syndrome with a novel pathogenic homozygous FAS variant effectively treated with sirolimus

13/05/2023
by informer 13/05/2023

Home-based enzyme replacement therapy in children and adults with Pompe disease

11/05/2023
by informer 11/05/2023

The future of rare disease drug development: the rare disease cures accelerator data analytics platform (RDCA-DAP)

09/05/2023
by informer 09/05/2023

Beyond current treatment of Fanconi Anemia: What do advances in cell and gene-based approaches offer?

05/05/2023
by informer 05/05/2023

Reducing diagnostic delay in hypophosphatasia: a case series of 14 patients presenting to general rheumatology

03/05/2023
by informer 03/05/2023
View All

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Upcoming events

  • XIV National Conference for Rare Diseases and Orphan Drugs | 29/09/2023

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Institute for rare diseases
  • HOME
  • ABOUT US
    • Information center
    • Medical center
    • Center for HTA and analyses
    • RareDis Solutions
    • Who we are
  • Projects
    • Like all of us
    • EU Funded Projects
      • European Project EUROPLAN
      • European Project EPIRARE
      • European Project S.T.o.Re
      • European Project BURQOL-RD
      • European Project RD PORTAL
      • European Project RD-ACTION
      • Autism Spectrum Disorders in Europe project
      • ORPHANET DATA FOR RARE DISEASES 2
  • RARE DISEASES
    • Latest news
    • Orphan Drugs
    • Rare diseases
      • A – F
      • G – M
      • N – Z
    • EPIDEMIOLOGICAL REGISTRIES
    • Patient Organizations
    • Centers of expertise in Bulgaria
    • Educational Materials
    • F.A.Q.
  • Publications
    • Scientific Publications
    • Analyses
  • Events
    • Upcoming events
    • Past events
  • Contact us
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