Category: Presentations

CGDS Researchers Present Work at CSHL Biological Data Science Meeting

Two researchers from the Center for Computational Genomics and Data Science (CGDS) recently showcased their work at the prestigious Cold Spring Harbor Laboratory (CSHL) Biological Data Science Meeting, held November 13-16, 2024. This meeting, known as #CSHLData24, brings together experts from across the globe to discuss advances in computational biology and genomics.

Dr. Gurpreet Kaur, a Scientist III at CGDS, presented her project titled “Integrative Genomic Characterization of a Rare Pediatric Differentiated Thyroid Cancer.” This project is a collaborative effort to understand the genomic underpinnings of a rare thyroid cancer in pediatric patients.

Shaurita D. Hutchins, a PhD trainee at CGDS, presented a poster titled “Identification of Drug Targets in Pulmonary Arterial Hypertension Using Gene Expression Signature Reversal & Mechanism of Action.” Her attendance was supported by a scholarship from the JXTX Foundation, which “provides support for students to attend conferences in computational biology and data science.”

CGDS is proud to have its researchers contributing to important discussions at leading scientific gatherings. The work presented at #CSHLData24 reflects the lab’s commitment to advancing computational biology.

Learn more about the CSHL Biological Data Science Meeting.

CGDS Trainee Presents at 2024 PWS Research Symposium

Brandon Wilk, a doctoral trainee in Genetics, Genomics, and Bioinformatics, gave an oral presentation at the 2024 Prader-Willi Syndrome (PWS) Research Symposium. His talk, “A Patient-Centered WGS-Driven Pilot Study: What Clinically Useful Knowledge Can We Gain from WGS?”, focused on the potential of whole-genome sequencing to provide meaningful insights for improving care in PWS. This work emphasizes the value of leveraging genomics to address patient-specific challenges.

Congratulations to Brandon for representing our lab and contributing to advancing PWS research!

CGDS Trainee Presents at the UAB Cystic Fibrosis Research Center Symposium

On October 4, 2023, Tarun Mamidi, a doctoral candidate in CGDS, showcased his research at the UAB Cystic Fibrosis Research Center Symposium, focusing on using 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.

Congratulations to Tarun!

CGDS Trainee Attends the CAGI⁕⁕ Workshop in Boston

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.

CGDS Trainee Attends 2023 CCTS Training Symposium

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!

CGDS Trainee Presents at 2023 GBS Symposium

Tarun Mamidi presenting at the 2023 UAB GBS Symposium

Tarun Mamidi, a doctoral trainee in the Genetics, Genomics, and Bioinformatics theme, delivered an impressive oral presentation titled about identifying cystic fibrosis variants using his tool, DITTO, at the 2023 UAB GBS Symposium.

His presentation highlighted the development of DITTO, a variant prioritization tool designed to identify modifier variants in rare diseases by integrating whole-genome sequencing data and machine learning models.

Congratulations to Tarun for being selected for an oral presentation and for his outstanding contribution to genome interpretation research!

CGDS Attends ACMG 2023 in Salt Lake City, UT

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 –

  1. Presented by Mana – P464: ROH pipeline enables analysis of regions of homozygosity using next generation sequencing data
  2. Presented by Gurpreet – P492: Identification of molecular modifiers of disease in a group of systematically phenotyped patients with cystic fibrosis
  3. Presented by Tarun – O48: DITTO4NF: In silico classification and prioritization of likely pathogenic variants for NF1 using explainable machine learning

Gurpreet was awarded Office of Postdoctoral Education (OPE) Travel Award for ACMG2023 to present her work on Cystic Fibrosis

Tarun giving his platform presentation at ACMG on DITTO4NF.
Tarun Mamidi
Mana, Gurpreet and Tarun
Gurpreet presenting her poster on Cystic Fibrosis

CGDS at UAB Cancer Retreat

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 Attend the 2022 CCTS Translational Training Symposium

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.