Montgomery, Ala. – Research, diagnoses, cures and advocacy are some of the themes being discussed at the Alabama State Capitol for Rare Disease Day 2018. Leaders in rare disease from HudsonAlpha and UAB Medicine joined Alabama Rare, patient families and state leaders for a press conference February 28, 2018 to discuss the rare disease landscape in Alabama.
Greg Cooper, PhD, HudsonAlpha faculty investigator and leader of several large rare disease clinical research programs in Alabama, discussed the great strides being made in the arena of diagnoses for previously-unknown rare conditions.
“Through our CSER and SouthSeq programs, which use genomic sequencing to diagnose conditions in children and newborns, we are providing answers to families in Alabama and contributing to our knowledge of rare disease both statewide and around the globe,” said Cooper.
HudsonAlpha collaborates with UAB-Medicine on multiple rare disease initiatives, including the Alabama Genomic Health Initiative. Bruce Korf, MD, PhD, chief genomics officer at UAB, discussed that program, as well as the Rare Disease Advisory Council being developed in Alabama.
Alabama Rare director Swapna Kakani organized the press conference and shared her personal motivation to grow Alabama’s rare disease network.
“One in ten people has a rare disease. As a rare disease patient myself who has had 65 surgeries since childhood, and advocated for myself, I have experienced the complex needs of rare disease families. I created Alabama Rare to support patients and families, educate the broader community, bring awareness to the population’s needs, and advocate for necessary change,” Kakani said.
Rep. April Weaver, chair of the Health Committee, spoke at the press conference as well.
Rep. Weaver has been instrumental in the creation of the Rare Diseases Advisory Council in Alabama.
At the conclusion of the press conference, Kakani, patient advocates, and Drs. Cooper and Korf met with Governor Kay Ivey. Governor Ivey signed a proclamation declaring February 28, 2018 Rare Disease Day in Alabama.
Rare Disease activities continue through next week. March 2 and 3, a rare disease conference aimed at scientists, students and advocates will be held at the Children’s of Alabama Bradley Lecture Center. March 7, Alabama Rare will partner with HudsonAlpha and NORD for a legislative advocacy day at the Alabama State House.
About HudsonAlpha: HudsonAlpha Institute for Biotechnology is a nonprofit institute dedicated to developing and applying scientific advances to health, agriculture, learning, and commercialization. Opened in 2008, HudsonAlpha’s vision is to leverage the synergy between discovery, education, medicine, and economic development in genomic sciences to improve the human condition around the globe. The HudsonAlpha biotechnology campus consists of 152 acres nestled within Cummings Research Park, the nation’s second largest research park. The state-of-the-art facilities co-locate nonprofit scientific researchers with entrepreneurs and educators. HudsonAlpha has become a national and international leader in genetics and genomics research and biotech education and includes more than 30 diverse biotech companies on campus. To learn more about HudsonAlpha, visit