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

Genomics and Proteomics of Rare Disease

Genomics and Proteomics of Rare Disease

Despite our understanding of the genetic mutations that underlie uncommon diseases, little is known about their cellular repercussions. Because developments in genome sequencing have far surpassed the throughout in functional follow-up investigations, functional studies on rare diseases have fallen behind gene identification. Furthermore, the pharmaceutical and biotech firms have few incentives to invest in drug research and development for diseases that only impact a small number of people. Rare diseases have always been investigated at the cellular level on an individual basis. A study published recently phenotyped a library of 2,890 rare disease-causing variations and their wild-type alleles in detail. Whole genome sequencing can provide insight into the genetics of rare disorders, it can miss up to half of the patients that are screened. The researchers discovered that integrating proteomics and genomics increases rare disease diagnostic accuracy.

  • Protein Modification
  • Protein Translation
  • Genomic Studies
  • Transcriptomics
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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