HYBRID EVENT: You can participate in person at London, UK or Virtually from your home or work.

International Conference On Orphan Drugs and Rare Diseases

August 21-23, 2023

August 21 -23, 2023 | London, UK

Diagnosis and Challenges

Diagnosis and Challenges

It's probably surprising that, despite recent technology and medical improvements, misdiagnosis and a lack of understanding remain key problems for persons living with a rare disease or undiagnosed condition. Being without a diagnosis is a terrible situation for families, compromising the patient's health, survival, and well-being, as well as, in some cases, the patient's entire identity. Even if there is no cure, obtaining one can help the family realise what they are up against, allowing them to begin to focus on how to manage the disease and their 'new normal.' The discovery of genes that cause rare diseases has increased at an unprecedented rate in the last five years, as has the number of diagnosable but untreatable conditions. Rare disease diagnosis is difficult; yet, the speed with which genomics has progressed from a research setting to mainstream clinical practice demonstrates its utility.

  • Incidence and Prevalence
  • Patient Reported Burden of Disease
  • Patient Access
Committee Members
Speaker at Orphan Drugs and Rare Diseases 2023 -  Daniel Scherman

Daniel Scherman

Fondation Maladies Rares, France
Speaker at Orphan Drugs and Rare Diseases 2023 -  Jiao Fuyong

Jiao Fuyong

Children’s Hospital of Shaanxi Provincial People’s Hospital, China
Speaker at Orphan Drugs and Rare Diseases 2023 -  Victor Shengkan jin

Victor Shengkan jin

Rutgers University, United States
Orphan Drugs 2023 Speakers
Speaker at Orphan Drugs and Rare Diseases 2023 - Candida Fratazzi

Candida Fratazzi

BBCR Consulting - Massachusetts, United States
Speaker at Orphan Drugs and Rare Diseases 2023 - Philip Bielefeld

Philip Bielefeld

Avignon Hospital, France
Speaker at Orphan Drugs and Rare Diseases 2023 - Harsha Rajasimha

Harsha Rajasimha

Jeeva Informatics Solutions Inc, United States

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