On October 4, 2023, Tarun Mamidi, a doctoral candidate in CGDS, showcased his research at the UAB Cystic Fibrosis Research Center Symposium, focusing on the use of neural networks to identify modifier variants in Cystic Fibrosis (CF).
His work aims to improve our understanding of how these variants can change how CF affects individuals and their response to treatments. By applying advanced neural network techniques, Tarun’s research offers potential pathways for more precise and effective therapeutic strategies.
Tarun Mamidi, a doctoral candidate in CGDS, recently participated in the Critical Assessment of Genome Interpretation (CAGI⁕⁕) Workshop from September 29 to October 1, 2023, in Boston, Massachusetts.
His presentation, “DITTO: Automated tertiary rare disease diagnosis pipeline using explainable Machine Learning,” highlighted innovative approaches to rare disease diagnosis.
The CAGI⁕⁕ Workshop is a gathering aimed at advancing genome interpretation techniques and addressing ethical, methodological, and technological challenges in the field. Through discussions on variant impact prediction and clinical genome interpretation, the event fosters collaboration among experts to enhance diagnosis and treatment strategies.
Tarun’s contribution to this forum underscores our lab’s commitment to leveraging technology for meaningful advancements in genome interpretation.
Samuel Bharti, a doctoral trainee in CGDS, attended the 2023 CCTS Training Symposium in Biloxi, MS from September 27th to September 29th. Thanks to his outstanding work, Samuel received a $300 travel award to present his latest research on Neurofibromatosis Type 1 (NF1).
In his poster presentation titled “Application of a Multi-Omics Approach in NF1 Deficient Tumors and Controls can Highlight Novel Associations and Therapeutic Targets,” Samuel shared how his research approach could open new pathways for understanding and treating NF1.
The CCTS Training Symposium is a gathering of some of the brightest minds in clinical and translational science, offering a platform for sharing cutting-edge research.
Congratulations to Samuel on his well-deserved recognition!
Left to right: Dr. Manavalan Gajapathy, Dr. Gurpreet Kaur, Tarun Mamidi, Dr. Liz Worthey
Tarun Mamidi gave a platform presentation on applying his thesis work to identify pathogenic variants causing Neurofibromatosis disease. Mana and Gurpreet also gave poster presentations on their projects. Here are the abstracts submitted to the conference –
In late 2022, CGDS, in collaboration with Dr. Deeann Wallis lab, participated in a hackathon organized by the Children’s Tumor Foundation to tackle challenges with Neurofibromatosis disease. Here’s the presentation from the hackathon to learn more about the project.
In response to the ground-breaking work, Hack4NF organizers awarded three prestigious awards to our team.
Winning team for Challenge-II: Devising in silico strategies to prioritize likely pathogenic NF1 germline variants.
2. Awarded Incubation award to work with the foundation to further develop methods for practical use in a clinical setting.
3. Third award for best overall use of the Hack4NF data platform.
In October 2022, the O’Neal Comprehensive Cancer Center at the University of Alabama at Birmingham (UAB) held its highly anticipated annual Research Retreat at Regions Field. This event brought together researchers, medical professionals, and trainees to share the latest advancements in cancer research. Among the many projects presented was a groundbreaking study on Pediatric Thyroid Cancer, presented as a poster by Dr. Gurpreet Kaur, a post-doctoral trainee at the Center for Genomic Data Sciences (CGDS).
Dr. Kaur’s research project aimed to shed light on the molecular mechanisms underlying the disease. As a post-doctoral trainee at the CGDS, she utilized cutting-edge genomic technologies and bioinformatics tools to analyze tumor samples from pediatric patients with thyroid cancer. Her poster allowed her to visually convey the key aspects of her research, including the objectives, methodology, findings, and potential implications. Attendees had the opportunity to engage with Dr. Kaur, ask questions, and gain a deeper understanding of her work.
Dr. Gurpreet Kaur presenting her poster on Pediatric Thyroid cancer project
CGDS trainees Shaurita Hutchins, Brandon Wilik, and Tarun Mamidi attended and presented at the 2022 CCTS Translational Training Symposium in Mobile, Alabama. Both Mamidi and Hutchins received the CCTS Scientific Excellence Award to support travel to the symposium starting on September 14th.
Shaurita, Brandon, and Tarun (left to right) on the final day.
Shaurita presenting a poster on pulmonary arterial hypertension.
Tarun presenting his variant pathogenicity tool called DITTO.
All trainees presented posters at the conference and were able to gain valuable knowledge on networking, utilizing social media as scientists, navigating relationships with mentors, and writing aims for their researchers.
To kick off the fall semester, Brandon Wilk and Tarun Mamidi showcased their projects to incoming students and the GBS community at the annual GBS symposium.
Recently, members of CGDS participated in the UAB hosted AI Against Cancer Data Science Hackathon with not just one team, but two teams. Their aim was at “solving cancer-related research, prevention, and healthcare practice problems using Artificial Intelligence (AI) and data science.” Both teams were formed of a diverse range of skilled individuals bringing together capabilities and experience from areas of genetics, genomics, transcriptomics, bioinformatics, machine learning, molecular biology, developmental biology, and clinical genomics.
Team Ditto, comprised of the same members that’d placed third in the 2020 UAB COVID-19 Hackathon (https://sites.uab.edu/cgds/2020/08/04/rico/): Tarun Mamidi, doctoral trainee in Genetics, Genomics and Bioinformatics; Dr. Ryan Melvin, Data Scientist in Anesthesiology; Dr. Thi K. Tran-Nguyen, Postdoctoral Fellow in PMI; Dr. Liz Worthey formed a new collaboration with Dr. Rati Chkheidze from Neuropathology. They presented work on “AI Guided Multiomics Data Mapping on Pathology Whole Slide Images of Glioblastoma”. For more information on their project, please watch their presentation recording here.
The new team this year, entered as Team BirthSeq-AI, was comprised of: Dr. Gurpreet Kaur, Postdoctoral Fellow in CGDS; Shaurita Hutchins, doctoral trainee in Genetics, Genomics and Bioinformatics; Brandon Wilk, doctoral trainee in Genetics, Genomics and Bioinformatics; Kristen Coutinho, doctoral trainee in Genetics, Genomics and Bioinformatics & Cortes Brain Aging and Physiology Lab; and mentored by Dr. Liz Worthey. Their focus on was on “Development of an AI-based Approach to Better Understand Chorangiomas by Studying Placental Heterogeneity”. For more information on their project, please watch their presentation recording here.
Team Ditto winning Second prize and Team BirthSeq-AI winning Health Equity Award
Both teams had stellar presentations and work performed in their respective areas with Team Ditto taking Second Place and Team BirthSeq-AI taking the Health Equity Award. See more at https://twitter.com/cctsnetwork/status/1430263483904532488
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