martes, 25 de septiembre de 2012

2012-2013 Genomics in Medicine Lecture Series

2012-2013 Genomics in Medicine Lecture Series

The 2012-2013 Genomics in Medicine Lecture Series

Suburban Hospital

This five-lecture series by top experts in genomics will enhance health-care professionals' understanding of the intersection between genomics and medicine. The series is sponsored by the National Human Genome Research Institute (NHGRI), in collaboration with Suburban Hospital and Johns Hopkins University School of Medicine. Each lecture takes place at Suburban Hospital's lower level auditorium at 8600 Old Georgetown Road in Bethesda, Md. All are welcome to the hour-long lectures, which begin at 8 a.m. on the first Friday of the month. Advanced registration is not required; however, those requesting continuing medical education (CME) credits are asked to sign in.
Lectures are recorded and posted on GenomeTV, NHGRI's YouTube channel at a later date.

For more information about the Genomics in Medicine lecture series, please contact Susan Laine at Suburban Hospital,, or Alice Bailey at NHGRI,

September Lecture

September 7, 2012

Dan Kastner
Horror Autoinflammaticus: Adventures in the Genomics of Inflammation

Daniel Kastner, M.D., Ph.D.
NIH Distinguished Investigator
Scientific Director, Division of Intramural Research, NHGRI
Senior Investigator Medical Genetics Branch, NHGRI
YouTube video View the Lecture Video
The systemic autoinflammatory diseases are a relatively recently recognized group of disorders characterized by seemingly unprovoked inflammation, without the high titer autoantibodies or antigen-specific T-lymphocytes seen in autoimmune diseases. This talk will describe the clinical features of the autoinflammatory diseases, and will present some of the recent advances in understanding their genetics, pathophysiology, and treatment.
Learning objectives:
  1. Recognize salient clinical features of the Mendelian autoinflammatory diseases.
  2. Describe how molecular genetic strategies advance our understanding of inflammation.
  3. Discuss the role of interleukin-1 inhibitors in the treatment of autoinflammatory diseases.

Upcoming Lectures

November 2, 2012

Max Muenke
The Genomics of Attention Deficit Hyperactivity Disorder

Maximillian Muenke, M.D.
Chief and Senior Investigator, Medical Genetics Branch, NHGRI
Attention Deficit Hyperactivity Disorder (ADHD) is the most common behavioral disorder of school-age children. Understanding the causes of ADHD will help identify the best treatment modality for each person with ADHD. Genomic studies in large families with ADHD have identified genetic contributions to ADHD as a first step towards personalized medicine.
Learning objectives:
  1. To review the impact of the clinical and behavior findings of ADHD on the individual.
  2. To appreciate the genetic and environmental causes of ADHD.
  3. To consider the impact of genomics on understanding causes and the impact on treatment.

December 7, 2012

Ellen Sidransky
Insights on the Genomics of Parkinson's Disease

Ellen Sidransky, M.D.
Senior Investigator, Medical Genetics Branch, NHGRI
Head, Molecular Neurogenetics Section, NHGRI
While in the past Parkinson disease was not considered to be an inherited disorder, in recent years different Parkinson genes and genetic risk factors have been identified. Increasingly, the boundaries between what are considered to be common complex disorders like Parkinson disease and "simple" Mendelian disorders have become blurred. I will show how insights from the study of the rare lysosomal storage disorder Gaucher disease have provided a deeper understanding of the pathogenesis of Parkinson disease, and may lead to new therapeutic strategies.
Learning objectives:
  1. To understand how genes implicated in Parkinson disease provide insights into the biology of the disorder.
  2. To appreciate how studies of rare diseases can provide an important window into more common complex disorders.
  3. To introduce the concepts of genetic risk factors and genetic modifiers and how they contribute to the overlap between Mendelian and complex disorders.

January 4, 2013

Kenneth Fischbeck
Diagnosis and Management of Neuromuscular Disease in the Genomic Era

Kenneth Fischbeck, M.D.
NIH Distinguished Investigator, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke
Adjunct Investigator, NHGRI
Identification of hereditary neuromuscular disease genes over the past 25 years has brought accurate diagnostic testing, cell culture and animal models for studies of disease mechanisms, and opportunities for developing treatment. For diseases such as muscular dystrophy and spinal muscular atrophy, treatments have been developed that are very effective in animal models. The challenge now is to translate these findings into safe and effective therapy in patients.
Learning objectives:
  1. To understand the genetic causes Duchenne muscular dystrophy and spinal muscular atrophy.
  2. To gain insight into the mechanisms of these and other hereditary neuromuscular diseases.
  3. To appreciate the prospects for effective treatment for these diseases.

February 8, 2013

Paul Sieving
Ophthalmic Genetics and Clinical Treatment Opportunities

Paul A. Sieving, M.D., Ph.D.
Director of the National Eye Institute, NIH
The elucidation of the full sequence human genome in 2001 has led to identifying many of the genes that cause ophthalmic diseases, of both single gene Mendelian traits and common complex disorders. Gene identification has led to dissecting molecular mechanisms and biological pathways of disease, and these studies have provided remarkable opportunities to explore targeted therapies. Examples will be discussed of translational studies underway, including by gene transfer, biomolecules and small molecules.
Learning objectives:
  1. To review history of ophthalmic disease gene discovery.
  2. Explore various phenotypes of ophthalmic disease.
  3. To consider the impact of gene discovery on ophthalmic disease treatment.
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