Select a day and time to participate in hands-on tool-specific training which will begin in mid-April.
The Division of eLearning and Professional Studies (eLPS) strives to ensure faculty success with Canvas, UAB's newly adopted learning management system. Please select a day and time to participate in hands-on tool-specific training, such as assignments, modules, quizzes, etc., which will begin in mid-April.

eLPS will offer open labs each Friday beginning April 4 in the CTL from 9 a.m. until noon. These are designed as walk-ins to aid you in rebuilding your courses.

See additional training opportunities and faculty support on the Canvas Success Site.

Faculty News

UAB State of the School of Medicine speech set for Jan. 28
UAB State of the School of Medicine speech set for Jan. 28
Dean Selwyn Vickers will present his first State of the UAB School of Medicine speech Jan. 28.

selwyn vickers2Selwyn M. Vickers, M.D., FACS, senior vice president for Medicine and dean of the University of Alabama at BirminghamSchool of Medicine, will give his first State of the School of Medicine address from noon to 1:15 p.m. Wednesday, Jan. 28, in the Margaret Cameron Spain Auditorium, corner of 19th Street South and Seventh Avenue.

Vickers will highlight the achievements from the past year across the broad missions of the School of Medicine: research, clinical care and medical education. He will also outline his plan for continued growth in the School of Medicine in pursuit of becoming the preferred academic medical center.

The address will be streamed live at www.uab.edu/medicine/sots beginning at noon.

UAB research probes molecular basis of rare genetic disorder
UAB research probes molecular basis of rare genetic disorder
Together with European partners, UAB unravels basis of Singleton-Merten Syndrome, which causes heart calcification and early periodontitis.

mary macdougallMary MacDougallAn international group co-led by University of Alabama at Birmingham researcher Mary MacDougall, Ph.D., has unraveled the molecular basis for the rare, inherited genetic disorder, Singleton-Merten Syndrome (SMS). Individuals with SMS develop extreme, life-threatening calcification of the aorta and heart valves, early-onset periodontitis and root resorption of the teeth, decreases in bone density, and loss of bone tissue at the tips of fingers and toes.

The cause of SMS is a missense mutation that changes a single amino acid in the protein MDA5 from arginine to glutamine, MacDougall and colleagues are reporting today (Jan. 22) in the online version of The American Journal of Human Genetics. That change in MDA5 — which detects viral double-stranded RNA as part of the innate immunity system — causes increased induction of interferon beta. Thus SMS is recognized as an innate autoimmune disease for the first time.

“The autoimmunity finding was startling,” said MacDougall, associate dean for research, James R. Rosen Chair of Dental Research, and professor in the Department of Oral and Maxillofacial Surgery at theUAB School of Dentistry, and director of UAB’s Global Center for Craniofacial, Oral and Dental Disorders. She and Frank Rutsch, M.D., Department of General Pediatrics, Muenster University Children’s Hospital, Germany, are co-first authors of the paper, “A Specific IFIH1 Gain-of-function Mutation Causes Singleton-Merten Syndrome.

Because of the unusual dental problems in SMS patients, Rutsch had contacted MacDougall 10 years ago to probe the molecular mechanisms of the syndrome. MacDougall is an internationally respected research leader in craniofacial developmental biology and dental genetics, particularly the molecular basis and mechanisms associated with human dental genetic disorders that alter tooth number, formation and hard tissue structure. Such investigations of differentiation during tooth and bone formation have broad applications across medical research.

SMS is an autosomal-dominant disorder, meaning the mutation is not carried on the sex chromosomes, and a single copy of the mutation in the gene IFIH1 that encodes MDA5 can cause disease. Rutsch identified three SMS-affected families, and researchers in Cologne, Germany performed whole-exome DNA sequencing and targeted Sanger sequencing to identify the mutation. The same mutation was found in 10 different patients.

MacDougall’s group at UAB analyzed the dental features of patients and created cell lines from SMS individuals and controls. Several of the dental pulp cell lines came from an extracted, forming third-molar that was shipped from Germany to Alabama by FedEx.

mary macdougall 2From left: Changming Lu, Mary MacDougall and Olga MamaevaFunctional studies by the UAB group found that:

  • MDA5 — as measured by immunohistochemistry of human heart, skin and cartilage tissue, or demineralized developing mouse teeth — was present in all target tissues that are altered in SMS.
  • Presence of the SMS- IFIH1 mutant gene increased interferon beta gene expression by 20-fold, and correcting the single mutation of the SMS-IFIH1 back to normal reduced expression to control levels.
  • The SMS- IFIH1 mutant gene had a greater response, as measured by interferon beta induction, when challenged with double-stranded RNA, as compared with the normal gene.
  • Whole blood of SMS individuals and the cell lines developed from the SMS tooth had higher expression of interferon signature genes, compared with control individuals and cells.

Thus, the altered gene is a gain-of-function mutation. Recently, IFIH1 has been linked to several autoimmune disorders, including Aicardi-Goutieres syndrome, though those individuals show brain and developmental defects.

The UAB research team included Changming Lu and Olga Mamaeva, research associates for the Institute of Oral Health Research in the UAB School of Dentistry, and Heidi Erlandsen, a former dental school instructor.

MacDougall is continuing SMS gene research at UAB, including probing the impact of its dysregulation of 30 genes that are involved in tooth formation and dentin mineralization; using it as a paradigm for patients with other diseases, such as periodontitis and aggressive periodontitis; screening glaucoma patients for the mutation, since early-onset glaucoma is one phenotype seen in some SMS individuals; and looking for altered microbiomes and oral biomes in SMS individuals.

The Global Center for Craniofacial, Oral and Dental Disorders at UAB, in conjunction with Dr. John Grant III, M.D., the James C. Lee III Chair in Pediatric Plastic Surgery at Children’s Hospital of Alabama, does basic, translational and clinical research to help treat and diagnose craniofacial, oral and dental disorders, and develop novel therapeutics and gene discovery for those disorders. Craniofacial and dental defects account for the majority of birth defects in the U.S., with one affected child born each hour. Grant is also Professor of Surgery at UAB and Director of the UAB Cleft and Craniofacial Center.

Renowned expert named inaugural director of UAB Informatics Institute
Renowned expert named inaugural director of UAB Informatics Institute
James Cimino, one of the nation’s leaders in using ‘big data’ resources to advance patient care, research and education, will head UAB’s new Informatics Institute.

cimino webJames J. Cimino, M.D., has been named the inaugural director of the Informatics Institute in the School of Medicine at the University of Alabama at Birmingham. The institute was established by the Board of Trustees of the University of Alabama System in June 2014.

Cimino, who previously was the chief of the Laboratory for Informatics Development at the National Institutes of Health's Clinical Center and a senior scientist at the National Library of Medicine, is a national leader in the burgeoning field of biomedical informatics. He is one of the few informaticians in the prestigious Institute of Medicine and co-editor of the most influential textbook on informatics, Biomedical Informatics: Computer Applications in Health Care and Biomedicine, Fourth Edition.

“We are extremely gratified that an informatician and physician of Dr. Cimino’s caliber will lead our new Informatics Institute,” said Selwyn Vickers, M.D., senior vice president and dean of the UAB School of Medicine. “Informatics is a relatively new, but incredibly important field, and its reach encompasses all aspects of medicine.”

Biomedical informatics is the science of collecting, representing, storing, retrieving and processing data and knowledge for the ultimate purpose of improving human health.

“The successful recruitment of such a renowned expert in the field reflects the deep commitment across all of UAB to a shared vison of being among the nation’s elite universities and academic medical centers,” said Ray L. Watts, M.D., UAB president. “We are firm in our commitment and desire for UAB to be an informatics beacon.”

Under Cimino’s leadership, the Informatics Institute will:

  • Design, enhance, and support the strategic use of data across the UAB enterprise.
  • Develop software for improved patient care, clinical operations and research.
  • Provide informatics expertise and resources to support personalized medicine services for UAB patients and biomedical research support to investigators.
  • Expand educational opportunities to train institutional and national leaders in informatics, from the undergraduate to terminal degrees.
  • Build an enterprise that will become a recognized national program in informatics research and implementation.

“I’m excited to come to UAB and help build an enterprise that can employ techniques of informatics to ‘big data’ resources for the benefit of patient care, research and education,” said Cimino. “Our goal is to create an internationally renowned center for informatics research, development, training and service. I believe UAB is uniquely positioned with the resources, leadership and infrastructure to achieve these goals.”

“Informatics is a discipline that brings data together and synthesizes it into new knowledge. In many ways, it is the connective tissue that allows us to integrate the diverse expertise found within UAB. It will be invaluable in the development of personalized medicine. It will improve the delivery of health care. It will help us understand health challenges facing the state and nation, and it will teach us how best to manage resources to provide optimal care for each population.”

Cimino will also be co-director of the UAB Center for Clinical and Translational Science, which has a major on-campus presence in informatics, providing the means to collect clinical data at the point of care and use those data for clinical, translational and outcomes research from bench to bedside and back. 

Planning for the institute dates to the creation of the Informatics Working Group, drawn from schools, departments and centers across campus, which has met regularly for the past two years to establish a framework for the establishment of the institute.

“Informatics is a discipline that brings data together and synthesizes it into new knowledge,” said Robert P. Kimberly, M.D., senior associate dean for research for the School of Medicine. “In many ways, it is the connective tissue that allows us to integrate the diverse expertise found within UAB. It will be invaluable in the development of personalized medicine. It will improve the delivery of health care. It will help us understand health challenges facing the state and nation, and it will teach us how best to manage resources to provide optimal care for each population.”

Vickers says the UAB Informatics Institute will help transform UAB into a learning health-care system, a concept pioneered by the Institute of Medicine six years ago. According to the IOM, such systems generate and apply the best evidence for the collaborative health-care choices of each patient and provider, drive the process of discovery as a natural outgrowth of patient care and ensure innovation, quality, safety and value in health care.

“I believe UAB has the visionary leadership in place that will allow us to bring the benefits of cutting-edge informatics to health care, energize our research community and add vibrancy to our educational programs to create the transdisciplinary professionals needed to thrive in our learning health-care system of the future,” Vickers said.

After graduating from Brown University and earning a medical degree at New York Medical College, Cimino interned and completed residency training in medicine at Saint Vincent's Hospital in New York. He then completed a research fellowship in medical informatics at Massachusetts General Hospital and Harvard. He was a professor of biomedical informatics and medicine at Columbia University, where he pioneered work on biomedical ontologies and a decision support tool called “infobuttons”.

In 2008, he accepted a dual appointment with the NIH Clinical Center and the National Library of Medicine, where he built the Biomedical Translational Research Information System (BTRIS), a trans-NIH repository of clinical research data.

Cimino was elected to the Institute of Medicine’s Class of 2014. He is a fellow of the American College of Physicians and the American College of Medical Informatics, for which he served as president from 2011 to 2012. He has served on the board of directors of the American Medical Informatics Association. In 2006 he received the Medal of Honor from New York Medical College and was elected to fellowship in the New York Academy of Medicine. He has received both the Donald A. B. Lindberg Award for Innovation in Informatics and the President's Award from the American Medical Informatics Association. He is a two-time recipient of the NIH Clinical Center Director’s Award

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