HudsonAlpha and UAB awarded NIH training grant
By: Sara Davies
Published Date: Jul 06
The University of Alabama at Birmingham and HudsonAlpha Institute for Biotechnology have been awarded a National Institutes of Health Ruth L. Kirschstein National Research Service Award to train postdoctoral fellows who have earned an M.D. and/or a Ph.D. The UAB-HudsonAlpha Genomic Medicine Research Training Program is designed to recruit trainees from various disciplines and provide mentorship and clinical research training in genomic medicine. At HudsonAlpha, the program will provide up to two years of support for postdoctoral trainees who choose to learn and work at the Institute.
Read moreFixing cystic fibrosis: In vitro studies show therapeutically robust correction of the most common CF gene mutation
By: Sara Davies
Published Date: May 26
In experiments with isolated cystic fibrosis lung cells, University of Alabama at Birmingham researchers and colleagues from two other institutions have partially restored the lost function of those cells.
The work is proof-of-concept for using a yeast genetic model to find therapeutic targets, in this case for people with the most common cystic fibrosis mutation, called ∆F508-CFTR. This mutation affects close to 90 percent of patients with cystic fibrosis, and half of those have two copies of the mutation.
Read moreSave the Date: NF Family Symposium on August 27
By: Sara Davies
Published Date: May 13
UAB Department of Genetics and the Children’s Tumor Foundation are hosting NF Symposium Family Day 2016. The event will take place in the Bradley Lecture Center in the Children’s Harbor Building at Children’s of Alabama. Stay tuned for more information. Questions? Contact Ashley Cannon at ashleycannon@uabmc.edu. We always look forward to this invaluable opportunity to provide information, support, and answers to Neurofibromatosis patients and families, especially those who may be facing a new diagnosis.
UAB Department of Genetics and the Children’s Tumor Foundation are hosting NF Symposium Family Day 2016. The event will take place in the Bradley Lecture Center in the Children’s Harbor Building at Children’s of Alabama. Stay tuned for more information. Questions? Contact Ashley Cannon at ashleycannon@uabmc.edu. We always look forward to this invaluable opportunity to provide information, support, and answers to Neurofibromatosis patients and families, especially those who may be facing a new diagnosis.
Center for Genomic Medicine: Pilot Project in Genomic Medicine
By: Sara Davies
Published Date: May 06
The Center for Genomic Medicine announced a Request For Application (RFA) at the symposium on May 4. This RFA is intended to stimulate collaborative research efforts between faculty at UAB and HudsonAlpha, with the goal of developing new research programs that will enhance the leadership of UAB and HudsonAlpha in the integration of genetics and genomics into medicine. For application information, click here.
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Today is DNA Day
By: Sara Davies
Published Date: Apr 25
April 25 is National DNA Day. This day commemorates the day in 1953 when James Watson, Francis Crick, Maurice Wilkins, Rosalind Franklin and colleagues published papers in the journal Nature on the structure of DNA. The UAB Department of Genetics gathered in the Finley Conference Room for light refreshments, a DNA cake, and a little DNA humor from the chair of the department, Dr. Bruce Korf. The department gathers on the day to celebrate the discovery and understanding of DNA and the scientific advances that understanding has made possible. Happy DNA Day!
April 25 is National DNA Day. This day commemorates the day in 1953 when James Watson, Francis Crick, Maurice Wilkins, Rosalind Franklin and colleagues published papers in the journal Nature on the structure of DNA. The UAB Department of Genetics gathered in the Finley Conference Room for light refreshments, a DNA cake, and a little DNA humor from the chair of the department, Dr. Bruce Korf. The department gathers on the day to celebrate the discovery and understanding of DNA and the scientific advances that understanding has made possible. Happy DNA Day!
Dr. Korf to discuss genetics, genomics in cardiovascular research April 28
By: Sara Davies
Published Date: Apr 22
Bruce R. Korf, M.D., Ph.D., professor of genetics and pediatrics, will present to the Comprehensive Cardiovascular Center Weekly Speaker Series 4-5 p.m. April 28 in the Kaul Building Finley Conference Room. He will present, "Integration of Genetics and Genomics into Cardiovascular Research and Medicine." Click here for more information.
UAB Medical Genomics Laboratory refines its genetic testing technology
By: Sara Davies
Published Date: Apr 15
The Medical Genomics Laboratory at the University of Alabama at Birmingham is expanding its technological array with a new panel of diagnostic tests for genetic diseases known as neurofibromatoses and rasopathies. Beginning April 18, the UAB lab will offer new tests using the technique called customized deep-coverage, next-generation sequencing or NGS.
Read more
The Medical Genomics Laboratory at the University of Alabama at Birmingham is expanding its technological array with a new panel of diagnostic tests for genetic diseases known as neurofibromatoses and rasopathies. Beginning April 18, the UAB lab will offer new tests using the technique called customized deep-coverage, next-generation sequencing or NGS.Read more
Bruce Korf videos on medical genetics will teach clinicians worldwide
By: Sara Davies
Published Date: Mar 31
UAB medical geneticist Bruce R. Korf, M.D., Ph.D., has produced six teaching videos focused on the latest in genetics for clinicians caring for critically ill children in all settings worldwide. The talks are posted on OPENPediatrics, an interactive digital learning platform that provides continuing medical education and promotes knowledge sharing among a global community of clinicians.
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UAB medical geneticist Bruce R. Korf, M.D., Ph.D., has produced six teaching videos focused on the latest in genetics for clinicians caring for critically ill children in all settings worldwide. The talks are posted on OPENPediatrics, an interactive digital learning platform that provides continuing medical education and promotes knowledge sharing among a global community of clinicians. Read more
The UAB-HudsonAlpha Center for Genomic Medicine publishes first newsletter
By: Sara Davies
Published Date: Mar 31
The UAB-HudsonAlpha Center for Genomic Medicine recently published its first quarterly newsletter. Did you miss it? View the newsletter or subscribe by visiting http://hudsonalpha.org/cgm/. This eNewsletter is dedicated to keeping you connected to the Center and highlighting areas of successful interaction between UAB and HudsonAlpha. Each issue will include information about new developments in the Center, including new personnel, new genomic approaches, upcoming events, and new funding opportunities.
The UAB-HudsonAlpha Center for Genomic Medicine recently published its first quarterly newsletter. Did you miss it? View the newsletter or subscribe by visiting http://hudsonalpha.org/cgm/. This eNewsletter is dedicated to keeping you connected to the Center and highlighting areas of successful interaction between UAB and HudsonAlpha. Each issue will include information about new developments in the Center, including new personnel, new genomic approaches, upcoming events, and new funding opportunities.
Agenda Available for Center for Genomic Medicine Symposium
By: Sara Davies
Published Date: Mar 18
The agenda is now available for the Center for Genomic Medicine Symposium which is presented by The University of Alabama at Birmingham and HudsonAlpha Institute for Biotechnology. It is Wednesday, May 4, 2016 from 10 a.m. - 6 p.m. at the Jackson Center in Huntsville, Alabama. Register Today!
The agenda is now available for the Center for Genomic Medicine Symposium which is presented by The University of Alabama at Birmingham and HudsonAlpha Institute for Biotechnology. It is Wednesday, May 4, 2016 from 10 a.m. - 6 p.m. at the Jackson Center in Huntsville, Alabama. Register Today!Event Description
At the Center for Genomic Medicine Symposium 2016, you will learn more about the capabilities and benefits surrounding our synergistic approach to genomics. Hear talks from specialists and gain the opportunity to ask questions of a distinguished panel of experts. You will have the chance to tour the innovative HudsonAlpha facility, enjoy a networking lunch with your peers and discuss with colleagues over cocktails at the evening reception.Medical detectives tackle undiagnosed diseases at UAB
By: Sara Davies
Published Date: Mar 14
Stephanie Smith's third child, Gage, was different from the start. He didn't cry like a normal baby, and as he grew, he missed most major milestones, she said.
Smith enrolled her son in physical therapy and sought answers from medical doctors, who couldn't pinpoint a problem with her son. They diagnosed his delay and provided a bleak prognosis that he might never learn to walk, talk or take care of himself.
Gage defied expectations and learned to communicate and read at a 3rd-grade level, Smith said. Then, when he was 9 years old, he began complaining about pain in his hips.
Stephanie Smith's third child, Gage, was different from the start. He didn't cry like a normal baby, and as he grew, he missed most major milestones, she said.Smith enrolled her son in physical therapy and sought answers from medical doctors, who couldn't pinpoint a problem with her son. They diagnosed his delay and provided a bleak prognosis that he might never learn to walk, talk or take care of himself.
Gage defied expectations and learned to communicate and read at a 3rd-grade level, Smith said. Then, when he was 9 years old, he began complaining about pain in his hips.
Continue reading the article on AL.com
Rare Disease Genomic Symposium on Friday, Feb. 22, 2016
By: Sara Davies
Published Date: Feb 22
The University of Alabama at Birmingham, Children’s of Alabama and the Center for Genomic Medicine at UAB/HudsonAlpha will present the Rare Disease Genomics Symposium 2016, from 8 a.m.-3:30 p.m., Friday, Feb. 26, at the Bradley Lecture Center on the fourth floor of the Children’s Harbor Building, 1600 Sixth Ave. South.
The symposium, associated with Rare Disease Day, Feb. 29, is also co-sponsored by UAB Medicine Genetics, the Heflin Center for Genomic Sciences, and the Center for Clinical and Translational Science.
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The University of Alabama at Birmingham, Children’s of Alabama and the Center for Genomic Medicine at UAB/HudsonAlpha will present the Rare Disease Genomics Symposium 2016, from 8 a.m.-3:30 p.m., Friday, Feb. 26, at the Bradley Lecture Center on the fourth floor of the Children’s Harbor Building, 1600 Sixth Ave. South.The symposium, associated with Rare Disease Day, Feb. 29, is also co-sponsored by UAB Medicine Genetics, the Heflin Center for Genomic Sciences, and the Center for Clinical and Translational Science.
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UAB-HudsonAlpha Center for Genomic Medicine Symposium 2016 Registration Now Open!
By: Sara Davies
Published Date: Feb 11
At the Center for Genomic Medicine Symposium 2016, you will learn more about the capabilities and benefits surrounding our synergistic approach to genomics. Hear talks from specialists and gain the opportunity to ask questions of a distinguished panel of experts. You will have the chance to tour the innovative HudsonAlpha facility, enjoy a networking lunch with your peers and discuss with colleagues over cocktails at the evening reception. Click here to register.
WHEN: Wednesday, May 4, 2016 from 10:00 AM to 6:00 PM (CDT)
WHERE: Jackson Center - 6001 Moquin Drive Northwest Huntsville, AL 35806
At the Center for Genomic Medicine Symposium 2016, you will learn more about the capabilities and benefits surrounding our synergistic approach to genomics. Hear talks from specialists and gain the opportunity to ask questions of a distinguished panel of experts. You will have the chance to tour the innovative HudsonAlpha facility, enjoy a networking lunch with your peers and discuss with colleagues over cocktails at the evening reception. Click here to register. WHEN: Wednesday, May 4, 2016 from 10:00 AM to 6:00 PM (CDT)
WHERE: Jackson Center - 6001 Moquin Drive Northwest Huntsville, AL 35806
UAB researchers work to unravel the complex genetic disease neurofibromatosis type 1
By: Sara Davies
Published Date: Feb 02
It is easy to tell a medical research story that has a simple and dramatic moment. But disease is often much more complex, and the work to understand it can be painstaking.
A vivid example of that is seen in the UAB Medical Genomics Laboratory, headed by Ludwine Messiaen, Ph.D., professor of genetics. This lab offers clinical genetic testing for a broad array of common and rare genetic disorders. One of the most confounding is neurofibromatosis type 1.
It is easy to tell a medical research story that has a simple and dramatic moment. But disease is often much more complex, and the work to understand it can be painstaking.A vivid example of that is seen in the UAB Medical Genomics Laboratory, headed by Ludwine Messiaen, Ph.D., professor of genetics. This lab offers clinical genetic testing for a broad array of common and rare genetic disorders. One of the most confounding is neurofibromatosis type 1.
To read the full article, click here.
In Conjunction with the Heflin Center for Genomic Sciences Present: Genetics and Genomics Seminar Series
By: Sara Davies
Published Date: Jan 25
As part of the Genetics and Genomics Seminar Series, Ivan Moskowitz, M.D., Ph.D will present “Gene Regulatory Networks in Cardiac Development and Homeostasis.” Dr. Moskowitz is an associate professor of Pediatrics in the Department of Pathology & Human Genetics from the University of Chicago in Chicago, IL. He will present on Friday, January 29, 2016 at 12:00-1:00 p.m. in the Finley Conference Center
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As part of the Genetics and Genomics Seminar Series, Ivan Moskowitz, M.D., Ph.D will present “Gene Regulatory Networks in Cardiac Development and Homeostasis.” Dr. Moskowitz is an associate professor of Pediatrics in the Department of Pathology & Human Genetics from the University of Chicago in Chicago, IL. He will present on Friday, January 29, 2016 at 12:00-1:00 p.m. in the Finley Conference CenterRead more
UAB’s Undiagnosed Diseases Program gives answers where there were none
By: Sara Davies
Published Date: Dec 28
Stephanie and Christopher Smith have been on a long, difficult and often frustrating journey to find answers for the mysterious health issues of their children. It started 24 years ago when their third child, Gage, was born. Gage, his younger brother Aiden and then sister Mandalynn, now 13, all developed mysterious symptoms that mystified doctors. All had severe inflammation of their joints, and delayed intellectual development. But no one knew why.
“We went to numerous physicians in Florida, South Carolina, Washington, D.C., and never got answers,” said Stephanie Smith. “They wrote “unknown bone disease” in the charts. We knew there was something dreadfully wrong with three of our five children, and no one could tell us what it was.”
Read more
Stephanie and Christopher Smith have been on a long, difficult and often frustrating journey to find answers for the mysterious health issues of their children. It started 24 years ago when their third child, Gage, was born. Gage, his younger brother Aiden and then sister Mandalynn, now 13, all developed mysterious symptoms that mystified doctors. All had severe inflammation of their joints, and delayed intellectual development. But no one knew why.“We went to numerous physicians in Florida, South Carolina, Washington, D.C., and never got answers,” said Stephanie Smith. “They wrote “unknown bone disease” in the charts. We knew there was something dreadfully wrong with three of our five children, and no one could tell us what it was.”
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UAB Medicine’s Undiagnosed Diseases Program expands with genomics clinic at Children’s of Alabama
By: Sara Davies
Published Date: Nov 30
The University of Alabama at Birmingham’s Undiagnosed Diseases Program will expand its services with a new genomics clinic located at Children’s of Alabama. The program, powered by UAB, Children’s of Alabama and the HudsonAlpha Institute for Biotechnology, uses sophisticated DNA sequencing and a multidisciplinary medical team to search for a diagnosis for patients with rare or unusual conditions that have defied diagnosis for years. The program was launched in October 2013.
Some of these conditions may be so rare that only a handful of people in the world have them. Others may be more common, but have symptoms that present in an unusual way, making diagnosis difficult. It is possible the UAB Medicine program will discover genetic conditions that have never been described.
Read more
Some of these conditions may be so rare that only a handful of people in the world have them. Others may be more common, but have symptoms that present in an unusual way, making diagnosis difficult. It is possible the UAB Medicine program will discover genetic conditions that have never been described.
Read more
UAB-HudsonAlpha Center for Genomic Medicine awards first pilot grants
By: Sara Davies
Published Date: Oct 09
The UAB-HudsonAlpha Center for Genomic Medicine has bestowed its first research grants as part of the collaboration between the University of Alabama at Birmingham and HudsonAlpha Institute for Biotechnology. The three pilot grants, each of $100,000 for up to two years, have been given to collaborative teams of one researcher from UAB and one from HudsonAlpha to pursue research projects in cancer and cardiac disease.
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The UAB-HudsonAlpha Center for Genomic Medicine has bestowed its first research grants as part of the collaboration between the University of Alabama at Birmingham and HudsonAlpha Institute for Biotechnology. The three pilot grants, each of $100,000 for up to two years, have been given to collaborative teams of one researcher from UAB and one from HudsonAlpha to pursue research projects in cancer and cardiac disease.Read more
State of the Department Address 2015
By: Kerry Gorelick
Published Date: Sep 25
Dr. Korf presented the State of the Department address on September 18, 2015 . Listen to the recording below.
The last hope: UAB’s Undiagnosed Diseases Program
By: Sara Davies
Published Date: Aug 06
For a medical mystery that defies explanation or diagnosis, the University of Alabama at Birmingham is the court of last resort. Launched in October 2013, the program aims to unravel the most perplexing medical cases in which a diagnosis has not previously been made.
Read more
For a medical mystery that defies explanation or diagnosis, the University of Alabama at Birmingham is the court of last resort. Launched in October 2013, the program aims to unravel the most perplexing medical cases in which a diagnosis has not previously been made.Read more