24th Annual James V. Neel Lectureship
Monday, May 12, 2025 (1:00-4:00PM)
This annual lectureship honors James V. Neel, M.D., Ph.D., a pioneer in the study of human genetics and one of the first to foresee its importance in the diagnosis and treatment of medical conditions.
1:00 PM Graduate Student Awards & Presentation, Keynote Lecture; Kahn Auditorium, BSRB
3:00 PM Poster Session & Reception; ABC Seminar Rooms, BSRB (Sign up to present - link tba)
Biomedical Science Research Building (BSRB), 109 Zina Pitcher Pl, Ann Arbor
Keynote Speaker: Matthew Hurles, PhD
Professor Matthew Hurles, FMedSci, FRS
Director the Wellcome Sanger Institute and Senior Group Leader
Seminar Talk: "Title TBA"
Hosted By: Agnieszka Lukaszewicz, PhD, Assistant Professor of Human Genetics
Sponsored By: The Department of Human Genetics, Medical School, University of Michigan
Keynote Speaker Bio:
Matthew Hurles is Director of the Wellcome Sanger Institute and leads a research group focused on deciphering the genetic causes of severe developmental disorders, and understanding how DNA mutates as it is passed from generation to generation.
I am fascinated by human genetic variation, its clinical impact, its underlying mutational origins and its potential to illuminate human prehistory.
I am dedicated to applying new genetic technologies to improve the diagnosis of patients with rare genetic conditions. I believe understanding the genetic causes of these disorders, and their underlying biological mechanisms, will give us fundamental insights into human development.
I lead the Deciphering Developmental Disorders (DDD) Study (https://www.ddduk.org), a collaboration between 14,000 families with children with severe, undiagnosed developmental disorders, all 24 clinical genetic centres in the UK and Ireland, and the Wellcome Sanger Institute. Together we are understanding the diverse genetic landscape of these disorders, and applying this knowledge to achieve improved diagnostic testing.
I also lead the Prenatal Assessment of Genomes and Exomes (PAGE) Study (https://www.pageuk.org), a collaboration between pregnant mothers and their partners, a network of UK Fetal Medicine Centres caring for these pregnant women and the Wellcome Sanger Institute. Together we are investigating the genetic causes of developmental anomalies that are identified during prenatal ultrasound screening, with the aim of improving the prognostic information that can be provided to parents.
The work of my research group has been characterized by rapid adoption of new technologies for assaying genetic variation, development of novel analytical strategies for making sense from large datasets and thoughtful application of these tools for advancing our understanding of human genetic diseases. More recently, our highly collaborative research has had increasing translational impact, resulting in genetic diagnoses for over a thousand children with previously undiagnosed developmental disorders, and leading to the founding of a start-up company (Congenica Ltd) to provide sustainable genetic diagnostic services to the NHS and other healthcare providers.
I believe we have a moral imperative to give patients and their families the opportunity to share their genetic data anonymously, to enable them to benefit from having the greatest possible number of researchers and clinicians analysing their data. Together with Helen Firth, I lead the DECIPHER initiative (https://www.deciphergenomics.org/) that is enabling rare disease patients to share anonymised genetic and clinical data globally.
My group is applying the latest technologies to edit the DNA of cells and model organisms to develop experimental models of newly identified genetic disorders that enable us to characterise the biology of the disorder, and to identify opportunities for developing therapies.
James V. Neel Lecturers
- 2025 Matthew Hurles
- 2024 Jenny Tung
- 2023 Eric Green
- 2022 Hopi E. Hoekstra
- 2021 Stuart H. Orkin
- 2020 Canceled
- 2019 James Lupski
- 2018 Uta Francke
- 2017 Neil J. Risch
- 2016 Andrew G. Clark
- 2015 Haig H. Kazazian, Jr.
- 2014 Richard P. Lifton
- 2013 Huntington F. Willard
- 2012 Mary-Claire King
- 2011 David Page
- 2010 David Botstein
- 2009 Aravinda Chakravarti
- 2008 Janet Rowley
- 2007 Joseph Goldstein
- 2006 Newton Morton
- 2005 Charles Scriver
- 2004 Arno Motulsky
- 2003 James Crow
- 2002 L.L. Cavalli-Sforza
- 2001 Jack Schull