GREGoR Consortium Grant Awardees

2024 GREGoR Consortium Grant Awardees

The GREGoR Consortium is pleased to announce the 2024 GREGoR Research Grant awardees and the Deborah Nickerson Memorial awardees to support workforce diversity in genomics research. At the conclusion of each award cycle, a brief summary of the work/activity for each awardee is included below.

The Research Grant awardees are (award cycle April 1, 2024 - March 31, 2026):

  1. Dr. Jill Moore, University of Massachusetts Chan Medical School, “Expanding transcriptional regulation resources to aid in the prioritization and interpretation of non-coding disease variants”
  2. Dr. Alex Wagner, Research Institute at Nationwide Children’s Hospital, “Advancing AI-readiness of GREGoR data with GA4GH Genomic Knowledge Standards”
  3. Dr. Aimee Dudley, Pacific Northwest Research Institute, “Quantitative, intuitive functional data for human missense variant interpretation”

The Deborah Nickerson Memorial awardees to support workforce diversity in genomics research are (award cycle April 1, 2024 - March 31, 2025):

  1. Dr. Gurpreet Kaur, University of Alabama at Birmingham, educational award
  2. Dr. Oluwafemi Gabriel Oluwole, University of Oxford, educational award
  3. Dr. Tim Reddy, Duke University, professional development award for a visiting scholar
  4. Dr. Moussa Sangare, Universite des Sciences, des Techniques et des Technologies de Bamako, Mali, professional development award

The main intention for the Consortium’s Research Grant Opportunities is to bring in needed expertise not currently represented within the Consortium. The primary aim for the use of these funds is to support small-to-medium scale projects with a well-defined scope that will complement our ongoing efforts to develop novel approaches to identify candidate variants/genes underlying rare genetic diseases and phenotypes, particularly those that remain unsolved following whole exome sequencing.

Another aim for the funds is to support an increase in workforce diversity in genomic research, in memory of our colleague Dr. Deborah A. Nickerson.

We thank all of the scientists who submitted a letter of intent or an application. We also thank the external scientific reviewers and the GREGoR Consortium members who contributed to the process of creating, reviewing and providing input for this award cycle.

The GREGoR Consortium will offer another round of awards to support workforce diversity in genomics research - this announcement will be posted in Fall 2024. The Consortium will not offer another round of Research Grant awards in the Fall of 2024. Please visit the GREGoR Grant Opportunities webpage for more information.

 

2023 GREGoR Consortium Grant Awardees

The GREGoR Consortium is pleased to announce the first annual GREGoR Research Grant awards and the Deborah Nickerson memorial awards to support workforce diversity in genomics research. At the conclusion of each award cycle, a brief summary of the work/activity for each awardee is included.

The Research Grant awardees are:

  1. Dr. Bo Xia - “Comprehensive in silico functional characterization of non-coding variants via machine learning-based chromatin organization prediction"
  2. Dr. Yang Li - "Novel methods to facilitate identification and visualization of aberrant splicing associated with rare human disease"
  3. Dr. Kinga Bujakowska - "Investigating the role of rare variants of unknown significance on aberrant splicing"

The Deborah Nickerson memorial awardees to support workforce diversity in genomics research are:

  1. Claire Kittock - educational award to attend the American Society of Human Genetics (ASHG) annual meeting in Washington, DC November 1-5, 2023
  2. Dr. Lorena Orozco - educational award to host a 3-day lecture series and workshop aimed at researchers and professionals in the areas of genomic and related sciences. This event took place at Instituto Nacional de Medicina Genómica (INMEGEN) in Mexico City, Mexico November 6-8, 2023. 115 people participated in the lecture series, including 38 participants for the practical workshop and 41 attendees for the bioinformatics training. Dr. Orozco reported, “The genomic diagnosis of patients in low- and middle-income countries, such as Mexico, represents a great challenge for physicians and researchers and an odyssey for patients. The [workshop included] 38 people [who are working to foster] workforce diversity in genomic research in different Health Institutions throughout Mexico. [These efforts] will also help to reduce the gap in genomic diagnosis in Mexico, impacting clinical practice and providing a more accurate and rapid genetic diagnosis, which can also have an impact in the development of new treatments and the life expectancy of the patients.”
  3. Dr. Goknur Haliloglu - professional development award to build on the current collaboration between Hacettepe University (NNDCS/NIH) in Turkey, and the GREGoR Research Center at Broad, with the goal to to bring next-generation sequencing research-based technologies to a large cohort of clinically and histologically well characterized diverse patients from a large tertiary national and international referral center in Turkey. While in the U.S. Dr. Haliloglu also attended several scientific conferences and co-authored 3 posters, and submitted 3 publications that acknowledge her GREGoR award:
    1. Haliloğlu G, Donkervoort S, Öz Yıldız S, Potticary A, Hu Y, P Lynn, Carlier RY, Amthor H, Aydıngöz Ü, Bönnemann CG. Distinct whole-body muscle MRI imaging patterns in PAX7-congenital myopathy: A case report. J Neuromuscul Dis (in press).
    2. Weisburd B, et al. Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets. medRxiv [Preprint]. 2024 Jun 29:2024.02.11.24302646. doi: 10.1101/2024.02.11.24302646.
    3. Foley AR, et al. The recurrent deep intronic pseudoexon-including variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice modulating therapy. medRxiv [Preprint]. 2024 Mar 29:2024.03.29.24304673. doi: 10.1101/2024.03.29.24304673.

The main intention for the Consortium’s Grant Opportunities is to bring in needed expertise not currently represented within the Consortium. The primary aim for the use of these funds is to support small-to-medium scale projects with a well-defined scope that will complement our ongoing efforts to develop novel approaches to identify candidate variants/genes underlying rare genetic diseases and phenotypes, particularly those that remain unsolved following whole exome sequencing.

Another aim for the funds is to support an increase in workforce diversity in genomic research, in memory of our colleague Dr. Deborah A. Nickerson.

We thank all of the scientists who submitted a letter of intent or an application. We also thank the external scientific reviewers and the GREGoR Consortium Members who contributed to the process of creating, reviewing and providing input for this award cycle. 

The next award cycle will open in Fall 2023. Please visit the GREGoR Grant Opportunities webpage for more information.