Rare Disease Research Summit

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. To celebrate these achievements, QIAGEN will be hosting a Virtual Rare Disease Summit 2022 on February 23, 2022.

Attend the Virtual Rare Disease Summit 2022 and get:

Access to live presentations from leading experts and abundant opportunities to support rare disease research
Opportunity to engage with other global rare disease researchers
Insights into the latest trends and advances in NGS sequencing technology

Listen to exciting talks with guest speakers and QIAGEN experts. Plus, network with global attendees, chat with our experts, explore our resource library and participate in fun games and activities. Don't miss this opportunity. Register today.

Program overview


10:00 a.m. EST	Keynote Address: 100,000 Genomes: Transforming healthcare, Professor Sir Mark Caulfield MD, FRCP, FAHA, FESC, FBHS, HonFPharmacol, FMedSci
11:00 a.m. EST	Circulating miR-181 as a prognostic biomarker for amyotrophic lateral sclerosis, Dr. Iddo Magen, Senior Scientist, Prof. Eran Hornstein Lab at Weizmann Institute of Science
12:00 p.m. EST	Accelerating rare variant analysis, Dr. Atil Bisgin, MD, Ph.D., Çukurova University Hospital
1:00 p.m. EST	Targeting disease-linked mutations by using focused actionable exome sequencing, Dr. Peter Hahn, Associate Director R&D, Next Generation Sequencing Development, QIAGEN
2:00 p.m. EST	How to streamline your variant classification workflow with HGMD, Dr. Araceli Cuellar, Field Application Scientist, Digital Insights team, QIAGEN
3:00 p.m. EST	Meet global leaders and play trivia games in the networking lounge

Speakers

Professor Sir Mark Caulfield

Professor Caulfield graduated in Medicine in 1984 from the London Hospital Medical College and trained in Clinical Pharmacology at St Bartholomew's Hospital. At the Queen Mary University of London, Professor Caulfield has made substantial contributions to discovering genes related to blood pressure, cardiovascular health, cancer and rare diseases. From 2002 to 2020, he worked as the Director of Queen Mary's William Harvey Research Institute. Professor Sir Mark Caulfield was elected as a Chief Scientist for Genomics England in 2013. For his leadership on the 100,000 Genomes Project on whole-genome sequencing in rare disease, cancer and infectious diseases, Professor Caulfield was awarded a knighthood in 2019.
Professor Sir Mark Caulfield holds a dual role as a Professor of Clinical Pharmacology at the Queen Mary University of London and the CEO of Barts Life Sciences. Since January 2022, Professor Sir Mark has been Vice-Principal for Health at the Queen Mary's Faculty of Medicine and Dentistry.
Dr. Iddo Magen

Iddo Magen is a senior scientist in Prof. Eran Hornstein's lab at the Department of Molecular Genetics and Neuroscience in the Weizmann Institute of Science (Israel). He received his Ph.D. in Pharmacy at the Hebrew University of Jerusalem in 2009. After his Ph.D., he completed a post-doctoral fellowship in Neurobiology in 2012 at UCLA, under the supervision of Marie-Françoise Chesselet. Dr. Magen joined the Weizmann Institute in 2013 as a Post-doctoral Fellow and has been working as a Staff Scientist since 2016. Dr. Magen's research focuses on developing biomarkers in biofluids of neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), spinal muscular atrophy (SMA) and spinal and bulbar muscular atrophy (SBMA).
Dr. Atil Bisgin

Dr.Atil Bisgin, MD, PhD holds a dual role as the head of the AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center) InfoGenom-AB initiative and is the acting head of the Medical Genetics Department of Medical Faculty and in Cukurova University, Adana, Turkey. He has received several awards and prizes, with the most recent award from AACR for adopting NGS technology in cancer diagnostics and showcasing its clinical utility. Currently, he is involved in global molecular testing strategies. He also plays a pivotal role in developing genetic testing services and ensures their translation to clinical-based projects. Dr. Bisgin has more than 100 published papers and has been very active with his international research collaborations focusing on rare disease diagnosis and treatments.
Dr. Peter Hahn

Peter Hahn is an Associate Director of R&D at the NGS Technology Department at QIAGEN. Dr. Hahn received his Ph.D. in Cellular and Molecular Virology from the University of the Saarland. Peter joined QIAGEN in 2002 as an R&D Scientist working on kits and applications for Gene Silencing. Since 2012, Peter has been working on NGS kit development and is currently leading a team responsible for library preparation kit development focusing on the whole genome, exome, and hybrid capture-based sequencing applications.
Dr. Araceli Cuellar

Dr. Araceli Cuellar is a Field Application Scientist in the QIAGEN Digital Insights team. Prior to joining QIAGEN, Araceli was a post-doctoral scholar and focused on BMP/TGF-β variants for rare pediatric craniofacial conditions using molecular, genetic and functional approaches. Araceli received her PhD in Integrative Pathobiology from the University of California, Davis analyzing the BMP signaling pathway in pediatric bone tumors of rare hereditary diseases.

Professor Sir Mark Caulfield
Dr. Iddo Magen
Dr. Atil Bisgin
Dr. Peter Hahn
Dr. Araceli Cuellar

Event activities

Join us in February 2022 to learn about recent advancements in rare diseases and how researchers use next-generation sequencing (NGS) to get valuable insights into rare disorders.

Meet global leaders and play trivia games in the networking lounge

Join us at the end of the day to meet other global attendees and play our live trivia night game to test your knowledge of rare diseases.

First place: $10 Amazon gift card*

Second place: Reusable water bottle

Third place: Portable charging station

Entertainment area

Play the Rare Research Drop game and we will donate $10 to NORD (National Organization of Rare Disorders) to support rare disease research. Get a chance to win a QIAGEN Virtual Rare Disease Summit themed prize.

Virtual library

Get access to valuable exome sequencing resources. Explore interesting videos, webinars, infographics and interactive guides and more. Plus, learn more about whole exome sequencing solutions for library prep, analysis and interpretation.

Scheduling conflict? Don't worry. Register now and you'll receive a link to view on-demand recordings that will be available after the event until March 1, 2022.

Rules and regulations

* Read and accept our Terms and Conditions: First place winner will receive an Amazon gift card with a value of $10 USD. Alternative prizes may be substituted if Amazon is unavailable in your country. Players are responsible for confirming that acceptance of a gift card is compliant with their employer's internal policies.

Participants warrant that they are not healthcare professionals and are not prohibited by employment, contract, law, regulation, or any applicable professional code of conduct from accepting a gift from QIAGEN. By participating in the giveaway, the participant certifies that he or she has obtained any permissions required from his or her employer to enter and is not violating any policies of his or her employer in so doing.

Virtual Rare Disease Summit 2022