Rare Disease Symposium STD 2018March 2 - 3, 2018 | Bradley Lecture Center 

Registration is now open for the 5th Annual Rare Disease Genomic Symposium. This symposium, held in conjunction each year with Rare Disease Day, will focus on the management of rare diseases. Friday, March 2, 2018 will have a scientific focus, while Saturday, March 3, 2018 will be centered around patients and caregivers.

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Korf2Bruce Korf, M.D., Ph.D. has been appointed to lead clinical implementation of precision medicine at UAB as Chief Genomics Officer for UAB Medicine, effective October 1.

In this role, Korf, Wayne H. and Sara Crews Finley Chair in Medical Genetics, will work with the UAB Hospital, UAB Health System, clinical department chairs and program and center directors to establish clinical programs in precision medicine, including defining the initial focus priorities as well as the implementation timeline.

The UAB Neurofibromatosis Clinic is looking to enroll adults with Neurofibromatosis Type 1 (NF1) for a clinical trial targeting cutaneous neurofibromas using the investigational drug called selumetinib. Cutaneous neurofibromas are the benign tumors on or in the skin that are common in adults with NF1. Study participants will take selumetinib by mouth as capsules every 12 hours for 24 cycles (one cycle equals 28 days). This study lasts approximately 2 years, unless significant side-effects develop. You may find more information regarding this clinical trial at www.clinicaltrials.gov study number NCT02839720.

For more study details, a clinical trial fair will take place on Saturday, November 4th from 8:00 a.m. - 12:00 p.m. in the Genetic’s Clinic space in the Kirklin Clinic. There will be an informational group session where the trial details will be provided. Anyone that is interested in the pursuing the trial will complete the consent forms and individually screened in a patient room. The informational session will be free of charge and the evaluation will be billed as standard of care, per protocol standards

For additional study questions, contact:
Ashley Cannon, PhD, MS, CGC (Study Coordinator)
Phone: 205-996-2916
Email: ashleycannon@uabmc.edu

Clinical Trail Information  

The University of Alabama at Birmingham and HudsonAlpha Institute for Biotechnology were recognized for their groundbreaking collaboration in genomics at the annual Health Connect South symposium in Atlanta, Georgia.

The Alabama Genomic Health Initiative was one of several collaborations aimed at improving health to be recognized at the event.

AGHI is aimed at preventing and treating disease, including certain types of cancer, heart problems and genetic disorders. In collaboration with HudsonAlpha in Huntsville, UAB Medicine is providing genomic testing, interpretation and counseling free of charge to residents in each of Alabama’s 67 counties. For some, the results will indicate an increased risk of a disease for which preventive or treatment strategies exist. Those participants will receive genetic counseling and be linked to appropriate medical care.

The initiative also features a public education campaign about genomic medicine and will create a DNA biobank for research, through which data from test results will be used to advance scientific understanding of the role that genes play in health and disease.

This free symposium, cohosted by CCTS and the Heflin Center for Genomic Science, will feature nearly a dozen presentations by up and coming ncRNA investigators, a panel discussion, and a competitive poster presentation. Registration is open. 

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