Virtual Rare Disease Summit 2022

Giving a voice to rare disease

Nearly 400 million people (around 1 in 20 people) are globally affected by a rare disease. Many individuals with a rare disease face various challenges in finding an accurate and timely diagnosis and treatment. Only 50% of people with a rare disorder successfully receive precise analysis. The hard work and commitment of rare disease researchers and the medical community is helping to ease this burden on patients. Recent advancements in next-generation sequencing (NGS) technologies, especially whole-exome sequencing, pave the way to a brighter future by detecting disease-linked variants in record time.

With research, rare disease diagnosis and treatment possibilities are limitless.

Highlights from our summit

Featured webinars on-demand
Optional caption

Transform genomics in healthcare

Prof Sir Mark Caulfield from Queen Mary University of London discusses the 100,000 Genomes Project, its application in patient care and the role of whole genome sequencing in addressing rare disease variants.

Optional caption

Circulating miR-181 is a prognostic biomarker for ALS

Dr. Iddo Magen, Senior Scientist, Prof. Eran Hornstein Lab at Weizmann Institute of Science establishes the potential of plasma cell-free microRNAs (miRNAs) as Amyotrophic lateral sclerosis (ALS) prognostication biomarkers.

Optional caption

Accelerate rare disease variant profiling

With challenges in detecting rare diseases, Atil Bisgin from the Cukurova University highlights how recent advances in next-generation sequencing can rapidly overcome challenges and uncover rare genetic variants involved in complex diseases.

Optional caption

Focused actionable exome sequencing for rare disease variant profiling

Peter Hahn, associate director from QIAGEN discusses how the newly designed QIAseq xHYB Actionable Exome kit can easily offer focused actionable insights into pathogenic variants within the HGMD.

Optional caption

Streamline variant classification workflow with HGMD

Araceli Cuellar, field application scientist from QIAGEN presents some examples of how using the Human Gene Mutation Database (HGMD) can help you streamline variant classification workflow.

Speakers