Category: News

Essential reading

CGDS granted continuing funding to extend our Patient-Centered WGS-Driven Pilot Study in Prader-Willi Syndrome

Launched in May 2021, this study applies whole genome and RNA sequencing to understand how genetic variation influences the severity of Prader-Willi Syndrome (PWS) symptoms and treatment response. Our team is dedicated to supporting individuals with rare, undiagnosed, or misdiagnosed conditions. We are proud to lead this work in partnership with the Foundation for Prader-Willi Research (FPWR).

Participants will receive findings on pathogenic variants from the ACMG Secondary Findings v3.0 gene list. FPWR has partnered with My Gene Counsel to ensure these results are delivered in a medically responsible and accessible way.

CGDS Publishes Study on Genetic Factors Influencing Vitamin D Status in Cystic Fibrosis

CGDS researchers and collaborators have published new findings on the genetic basis of vitamin D variability in adults with cystic fibrosis (CF). The study analyzed 25-hydroxyvitamin D (25OHD) levels alongside whole genome sequencing data from 80 adults to investigate why some patients remain vitamin D insufficient despite consistent supplementation.

Results showed that 30% of participants had 25OHD concentrations below the 30 ng/mL threshold, despite normal vitamin E levels. Polygenic risk scores (PRS) were significantly correlated with 25OHD status, indicating that common genetic variants contribute to differences in response to vitamin D therapy. These findings align with prior results in children and support a more personalized approach to supplementation in CF care.

Read the full study in Journal of Cystic Fibrosis: Vitamin D status and variable responses to supplements depend in part on genetic factors in adults with cystic fibrosis.

CGDS Publishes on Caregiver Perspectives in Prader-Willi Syndrome Pharmacogenomics

Researchers at CGDS, in collaboration with FPWR, have published a study exploring caregiver interest in pharmacogenomic (PGx) testing for children with Prader-Willi syndrome (PWS). The study surveyed caregivers before returning PGx results, aiming to understand their expectations and planned use of this information in clinical care.

Among the 48 caregivers surveyed, 93.8% expressed strong interest in their child’s PGx results. Nearly all respondents (97.9%) intended to share the findings with medical providers, yet fewer than half (47.9%) felt confident that those providers would use the results. The findings highlight the enthusiasm among caregivers and the perceived gap in provider readiness to act on PGx data, signaling a need for increased education and support around clinical implementation.

Read the full study in Pharmacogenomics: Pharmacogenomics for Prader-Willi syndrome: caregiver interest and planned utilization.

Rabab Fatima Embarks on a Journey at Georgia Tech

We’re excited to announce that Rabab Fatima, a Software Developer II at CGDS, has been accepted into the Master’s in Computer Science (Online) program at the Georgia Institute of Technology, starting Spring 2024.

Rabab’s decision to pursue this advanced degree stems from her commitment to deepening her expertise in Computer Science and Software Engineering, with a keen focus on the Interactive Intelligence specialization. This specialization aligns with her passion for exploring the intersection of Artificial Intelligence, Human-Computer Interaction, and Cognitive Science.

Rabab’s goal is to harness the knowledge and skills acquired through the OMSCS program to innovate and create cutting-edge technical products and tools. She aims to develop solutions that are not only technologically advanced but also intelligent and human-centered, reflecting a deep understanding of cognitive science alongside the latest developments in AI and Machine Learning. Rabab’s journey into this prestigious program is a testament to her dedication to her professional growth and her vision for contributing meaningful advancements in the tech world.

We congratulate Rabab on this significant achievement and look forward to the innovative contributions she will undoubtedly make to our field with the insights gained from her studies at Georgia Tech.

CGDS Moves Locations!

The entrance to the new CGDS lab/work space.

In May 2023, CGDS moved out of Children’s Hospital and to a new location in the 912 Building on the south side of UAB’s Campus. The UAB-Biological Data Science Core (U-BDS) is joining us in the same suite! We are excited about the new location and are planning to host several training sessions, seminars, and events in the new space.

Please feel free to stop by and check out the new space. If you have any questions about the new location, email Kate Daughtry at ked2012@uab.edu.

https://www.uab.edu/map/?912-building

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