Daily Archives: April 3, 2015

BETHESDA, Md., April 2, 2015 /PRNewswire-USNewswire/ -- At its 2015 ACMG Annual Clinical Genetics Meeting in Salt Lake City, the American College of Medical Genetics and Genomics (ACMG) announced the election of five new directors to its Board. Members of the ACMG Board of Directors serve as advocates for the ACMG and for forming and advancing its policies and programs. ACMG is the national organization for the medical genetics profession.

"It's an eventful time in medical genetics and genomics. We are excited to add these outstanding individuals to our Board," said Michael S. Watson, PhD, FACMG, ACMG Executive Director. "The College's Board consists of experienced and skilled individuals with diverse medical backgrounds within genetics to represent the broad range of work that our members do. Each new Board member brings singular talents, insights, and experience that will enhance the College's mission."

The five newly-elected directors will serve six-year terms from April 2015 to March 2021.

Louanne Hudgins, MD, FACMG:President-Elect

ACMG President-elect Dr. Louanne Hudgins received her MD from the University of Kansas. She completed her internship/residency in Pediatrics and her fellowship in Human Genetics at the University of Connecticut. Dr. Hudgins is board certified in medical genetics. She is currently Professor of Pediatrics and Chief of the Division of Medical Genetics at Stanford University Medical Center. She is also Director of Perinatal Genetics and Service Chief for Medical Genetics at Lucile Packard Children's Hospital Stanford. She has been the Mosbacher Family Distinguished Packard Fellow at the Stanford University School of Medicine, Department of Pediatrics since 2008. Known as an outstanding teacher and mentor, she also earned the "Excellence in Teaching Award" at Stanford University School of Medicine in 2004 and 2009-2010.

Dr. Hudgins has been very active in the ACMG serving on the ACMG Board of Directors (2002-2009) and as VP for Clinical Genetics (2007-2009). She has also served on several committees: Dysmorphology Subcommittee (1997-2000); Governance Committee (2008-2009); Co-Chair, Professional Practice and Guidelines Committee (2003-2007); Maintenance of Certification Committee (2005-2012). Additionally, Dr. Hudgins has been involved in national and international professional activities including the American Academy of Pediatrics, the American Board of Genetic Counseling, the National Board of Medical Examiners, the NIH/NHGRI Special Emphasis Review/Panel, the American Society of Human Genetics and the International Congress of Human Genetics.

Dr. Hudgins' specialties include prenatal screening and diagnosis, dysmorphology, and general clinical genetics. She has authored more than 100 peer-reviewed and invited publications. She recently co-edited the book Signs and Symptoms of Genetic Conditions: A Handbook.

Tina M. Cowan, PhD, FACMG:Director, Biochemical Genetics

Dr. Cowan received both her BA and PhD degrees in Biology from the University of California, Los Angeles. Dr. Cowan completed her postdoctoral training at the University of Maryland, Baltimore, and is ABMGG-certified in Biochemical/Molecular Genetics and Medical Genetics. Following training she joined the faculty at the University of Maryland, Division of Human Genetics, where she was co-director of the Biochemical Genetics Laboratory. She is currently Associate Professor of Pathology at Stanford University and Director of the Clinical Biochemical Genetics Laboratory, as well as Laboratory Training Director for ABMGG-accredited training in biochemical genetics for both the Stanford and UCSF programs.

Dr. Cowan was a member of the ACMG Laboratory QA committee (Vice-Chair 2010-2012) and Biochemical Genetics Subcommittee (Chair 2008-2012), as well as the ACMG ACT Sheet and Confirmatory Algorithms Workgroup. She served on the ABMGG Board of Directors from 2006-2011 (President 2011), and is a member of the CAP/ACMG Biochemical and Molecular Genetics Resource Committee (Biochemical Genetics).

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American College of Medical Genetics and Genomics Announces New Board Members: Dr. Louanne Hudgins is ACMG President ...

Researchers have identified a new genetic mutation at the heart of a severe and potentially deadly seizure disorder found in infants and young children. The finding, which was reported today in the journal American Journal of Human Genetics, may help scientists unravel the complex biological mechanism behind these diseases.

"These findings allow us to open up what was, up to this point, a 'black box' and more fully understand the biological pathways associated with these disorders and why some individuals do not respond to treatment," said Alex Paciorkowski, M.D., an assistant professor of Neurology at the University of Rochester Medical Center (URMC) and lead author of the study.

Epileptic seizures are the result of bursts of electrical activity in the brain caused when groups of neurons fire in an abnormal pattern. The study out today focuses on a severe form of seizure disorders - early myoclonic encephalopathy, Ohtahara syndrome, and infantile spasms - collectively referred to as developmental epilepsies. These seizures appear early in life, in some instances hours after birth, and can be fatal. Individuals with the condition who survive beyond infancy will often struggle for the rest of their lives will developmental disabilities, autism, and uncontrollable seizures.

The researchers analyzed the genetic profiles of 101 individuals with developmental epilepsy and were able to identify a mutation in a gene called salt-inducible kinase 1 (SIK1), a gene previously unidentified with the disease and one which the researchers believe plays a role in a chain reaction of gene and protein interactions in neurons that contribute to seizures.

The link between the SIK1 mutation and developmental epilepsy was made possible through the intersection of genetics, neurobiology, and high performance computing. In the latter case, the researchers utilized a supercomputer cluster at the University of Rochester that allowed the scientists to sift through enormous sets of genetic information quickly and more efficiently.

"High performance computational capabilities were key to this research and enabled us to analyze essentially the full genetic profile - more than 20,000 genes - for each study subject and simultaneously compare the results with data from other families," said Paciorkowski. "In the past, this type of analysis would have taken months of computing time to accomplish. We can now get results in a matter of days."

Once the mutation was identified, the researchers worked with neurobiologists in the URMC lab of Marc Halterman, M.D., Ph.D., and were able to identify the downstream impact of the mutation, namely that it regulated another gene that has been associated with severe seizures called myocyte-specific enhancer factor 2C (MEF2C).

While the biological chain of events caused by the mutation is not fully understood, the researchers believe that malfunctioning SIK1 and MEF2C genes interfere with the cellular machinery in neurons that that are responsible for guiding proper development, namely, the growth, maintenance, and maturation of synapses, the connections that allow neurons to communicate with their neighbors.

Using an array of experiments, including in brain tissue from an affected individual, Paciorkowski and colleagues showed that the proteins created by the mutated SIK1 did not behave normally. In healthy cells, the proteins eventually make their way from the cytoplasm into the cell's nucleus and, once there, help "instruct" the cell to carry out specific functions. The researchers observed that the proteins created by mutated SIK1 genes remained stuck in the cytoplasm.

While the finding sheds light on the biological mechanisms of these diseases, it may also guide treatment in the near future. The primary drug used to treat developmental epilepsy is adrenocorticotropic hormone (ACTH). However, the drug is ineffective in about 40 percent of cases. ACTH is also very expensive and has significant, including life-threatening, side effects. The hormone is known to regulate SIK1 levels. The new finding may enable researchers to better identify which individuals are more likely to benefit from the treatment.

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Study finds new genetic clues to pediatric seizure disorders