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.”
Read more
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.
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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
Daniel Bullard to Give Keynote address at Office of Undergraduate Research Summer EXPO
By: Sara Davies
Published Date: Jul 31
The University of Alabama at Birmingham’s Office of Undergraduate Research will host nearly 200 student presentations during its Summer Expo on Friday, July 24.
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The University of Alabama at Birmingham’s Office of Undergraduate Research will host nearly 200 student presentations during its Summer Expo on Friday, July 24. Changes in gene explain more of inherited risk for rare disease
By: Sara Davies
Published Date: Jul 31
Changes to a gene called LZTR1 predispose people to develop a rare disorder where multiple tumors called schwannomas form near nerve pathways, according to a study published today in the journal Nature Genetics and led by researchers from the University of Alabama at Birmingham.
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UAB neurofibromatosis research bolstered by $7 million grant
By: Sara Davies
Published Date: Jul 31
BIRMINGHAM, Alabama -- The University of Alabama at Birmingham has won a $7 million grant to continue its leadership in clinical trials to treat neurofibromatosis and several related, but rare, genetic diseases.
UAB plays key roles as the operations center for the clinical research consortium and as data management site for the trials. It also recruits patients for the trials, along with consortium members at 11 other medical centers in the United States and one in Australia.
For a link to the original article, click here.
UAB plays key roles as the operations center for the clinical research consortium and as data management site for the trials. It also recruits patients for the trials, along with consortium members at 11 other medical centers in the United States and one in Australia.
For a link to the original article, click here.
UAB School of Medicine, HudsonAlpha create joint Center for Genomic Medicine
By: Sara Davies
Published Date: Jul 31
The University of Alabama at Birmingham School of Medicineand the HudsonAlpha Institute for Biotechnology have created the UAB-HudsonAlpha Center for Genomic Medicine to accelerate discoveries in genomics and propel those discoveries into clinical practice.
The UAB-HudsonAlpha Center for Genomic Medicine will span human genome research — studying the complexities of human DNA to understand, at a molecular level, the genetic underpinnings for the onset and progression of diseases — with clinical care, incorporating research knowledge into predicting and diagnosing diseases and developing personalized therapies and cures. Read more
The University of Alabama at Birmingham School of Medicineand the HudsonAlpha Institute for Biotechnology have created the UAB-HudsonAlpha Center for Genomic Medicine to accelerate discoveries in genomics and propel those discoveries into clinical practice.The UAB-HudsonAlpha Center for Genomic Medicine will span human genome research — studying the complexities of human DNA to understand, at a molecular level, the genetic underpinnings for the onset and progression of diseases — with clinical care, incorporating research knowledge into predicting and diagnosing diseases and developing personalized therapies and cures. Read more
UAB and Birmingham Jewish Federation and Foundation offer genetic screening
By: Sara Davies
Published Date: Jul 31
One in four Jewish individuals of Central and Eastern European descent is a carrier for at least one of 19 preventable genetic disorders, many of which strike in childhood, have no cure and can lead to an early death.
On Jan. 13, 2013, the Levite Jewish Community Center, 3960 Montclair Road in Birmingham, will hold a community-wide screening from 11:00.a.m. to 4:00 p.m. for potential carriers of these genetic disorders.
The Birmingham Jewish Federation and Foundation host this screening in partnership with the National Victor Center for the Prevention of Jewish Genetic Diseases at Einstein Medical Center in Philadelphia and UAB’s Department of Genetics. Lane Rutledge, M.D., professor in Genetics, and Katie Nelson, a genetics counselor, will provide genetic counseling.
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On Jan. 13, 2013, the Levite Jewish Community Center, 3960 Montclair Road in Birmingham, will hold a community-wide screening from 11:00.a.m. to 4:00 p.m. for potential carriers of these genetic disorders.
The Birmingham Jewish Federation and Foundation host this screening in partnership with the National Victor Center for the Prevention of Jewish Genetic Diseases at Einstein Medical Center in Philadelphia and UAB’s Department of Genetics. Lane Rutledge, M.D., professor in Genetics, and Katie Nelson, a genetics counselor, will provide genetic counseling.
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Bruce Korf named fellow of the American Association for the Advancement of Science
By: Sara Davies
Published Date: Jul 31
Bruce Korf, M.D., Ph.D., professor and chair of the Department of Genetics at the University of Alabama at Birmingham, has been named a fellow of the American Association for the Advancement of Science. Election as a fellow is an honor bestowed upon AAAS members by their peers.
Dr. Singh invited to NIH strategic workshop
By: Sara Davies
Published Date: Jul 31
Keshav K. Singh, Ph.D., a UAB expert on the roles of mitochondria in cancer, mitochondrial disease and aging, is one of 12 extramural researchers invited to a National Cancer Institute Mitochondrial Information Transfer Strategic Workshop this week.
Singh, who came to UAB in 2011, is director of the Comprehensive Cancer Center’s Cancer Genetics Program and a Joy and Bill Harbert Endowed Chair and professor in the Department of Genetics.
The closed-door, invitation-only workshop will examine the nature of mitochondrial information transfer both within and between cells, specifically how back-and-forth communication between the mitochondria and the nucleus fundamentally affects cellular function and how defects in this communication cause a number of human diseases, including cancer.
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Keshav K. Singh, Ph.D., a UAB expert on the roles of mitochondria in cancer, mitochondrial disease and aging, is one of 12 extramural researchers invited to a National Cancer Institute Mitochondrial Information Transfer Strategic Workshop this week.Singh, who came to UAB in 2011, is director of the Comprehensive Cancer Center’s Cancer Genetics Program and a Joy and Bill Harbert Endowed Chair and professor in the Department of Genetics.
The closed-door, invitation-only workshop will examine the nature of mitochondrial information transfer both within and between cells, specifically how back-and-forth communication between the mitochondria and the nucleus fundamentally affects cellular function and how defects in this communication cause a number of human diseases, including cancer.
Read more