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CHG Faculty member, Svati Shah, M.D., teams up with Duke cardiologists to study the genetics of cardiac sudden death. The study is discussed on page 8 the abstract,, a Duke publication.

CHG Faculty member Silke Schmidt is leading a study of Veterans with ALS (Lou Gehrig's Disease). The Baltimore Sun recently showcased her work here.

For the first time, the association between Parkinson's disease and exposure to pesticides has been shown in patients with the neurological disorder compared with their unaffected relatives, according to a new study."Previous studies have shown that individuals with Parkinson's disease are over twice as likely to report being exposed to pesticides as unaffected individuals" says the study's lead author, Dana Hancock, "but few studies have looked at this association in people from the same family or have assessed associations between specific classes of pesticides and Parkinson's disease." For more information, click here.

Dr. Michelle Winn receives prestigious PECASE award. The Presidential Early Career Award for Scientists and Engineers is the highest honor bestowed by the U.S. government on outstanding scientists and engineers beginning their independent careers. The Presidential Awards are intended to recognize and nurture those who, while early in their research careers, show exceptional potential for leadership at the frontiers of scientific knowledge . Dr. Michelle Winn, a 2006 PECASE recipient, was photographed with other recipients at the White House in November, 2007.

Risk genes for multiple sclerosis uncovered. Candidate gene and large-scale genomic studies have uncovered new genetic variations associated with multiple sclerosis (MS), findings that suggest a possible link between MS and other autoimmune diseases. The studies, led by Simon Gregory and Silke Schmidt of the Duke CHG, and an international team of MS geneticists, appear in the July 29 online edition of Nature Genetics and the New England Journal of Medicine. Read the IL7R and the WGA press release.

Strides in Autism research. In June of 2006, researchers led by Drs. Margaret Pericak-Vance, John Gilbert, and Michael Cuccaro at the Duke Center for Human Genetics (CHG) announced an important finding in the search for genes involved in autism. They found that the presence and interaction of two malfunctioning genes increases the risk of autism among African Americans. Recently published by Neurogenetics (Collins et al. 2006), these findings further support results reported in 2005 by the CHG autism research team (Ma et al. 2005) that the same gene combination increases the risk of autism in Caucasians. Read press release. Read the article.

ET Team featured in Anniversary issue of Spikes & Spasms
Dr. Allison Ashley-Koch published an article in the Anniversary issue of Spikes and Spasms, a publication dedicated to raising awareness about Essential Tremor produced and distributed by Tremor Action Network. Click here to read the article.

Dr. Simon Gregory appears on UNC-TV's "North Carolina Now"
Dr. Simon Gregory, Assistant Research Professor at the Duke Center for Human Genetics, was interviewed by UNC-TV during the "North Carolina Now" segment on Wednesday, June 7, 2006. Dr. Gregory discussed a significant achievement in the Human Genome Project: the sequencing and deciphering of the final human chromosome, chromosome one. Dr. Gregory led an international team of scientists in this important mission, initially at the Wellcome Trust Sanger Institute in England and, more recently, at Duke. Dr. Gregory explained that this detailed guide to the last and largest human chromosome will prompt a turning point in genetic medicine. Understanding the genetic makeup of individuals will help researchers worldwide better understand the inheritance of illness and disease. View the interview.

Simon G. Gregory, Ph.D and team complete Chromosome 1 sequence
Simon G. Gregory, Ph.D., assistant professor at the Duke Center for Human Genetics, led a team of 150 UK and US scientists who have completed the detailed genetic mapping of human chromosome 1, the largest single unit of genetic material in the human genome and the final chromosome to be completely sequenced. Chromosome one is not only gene rich but it also contains the greatest number of disease genes localized to any human chromosome. "This achievement effectively closes the book on an important volume of the Human Genome Project, a project that began in 1990 to identify the genes and DNA sequences that provide a blueprint for human beings," explains Dr. Gregory. Read more here and here.

CHG hosts Congressman David Price
U.S. Congressman David Price of North Carolina visited the Duke Center for Human Genetics (CHG), on April 20, 2006. Congressman Price toured the facilities, met with faculty and later conducted a townhall style meeting with the entire CHG staff. Price has championed increased funding for scientific and research agencies such as the National Science Foundation, the Environmental Protection Agency and the National Institutes of Health. See a photo of CHG Director Margaret Pericak-Vance and Associate Director Jeffery M. Vance with Congressman Price.

On Wednesday March 29, 2006 CHG was proud to host Dr. P. Michael Conneally
Dr. Conneally delivered a fascinating talk entitled, DNA in Human Identification: Lessons From 9/11. He is a Distinguished Professor Emeritus in Medical and Molecular Genetics at the Indiana University School of Medicine. In the past two decades he has been instrumental in mapping approximately 20 human genes. See photos from his talk:1 2.

April 2006 edition of Genome Technology features CHG Faculty and collaborators
In their April 2006 edition, Genome Technology features CHG Director Margaret Pericak-Vance and Associate Director Jeffery M. Vance along with collaborators from the Guilford Genomic Medicine Initiative (GGMI), Vincent Henrich, Director for the Institute for Health, Science and Society at the University of North Carolina at Greensboro and Pamela Lietz from the Moses Cohn Health Center. GGMI seeks to make personalized genomic medicine a reality through collaboration with the Moses Cone Health System, the Duke Center for Human Genetics and the University of North Carolina at Greensboro with funding from the US Department of Defense. Read the article and Learn more about GGMI.

Parkinson research receives international recognition
Researchers at the Duke CHG recently received the 2005 Premio Artigo Cientifico from the Instituto de Genetica Medica Jacinto Magalhaes for their publication, "Identification of Risk and Age-at-Onset Genes on Chromosome 1p in Parkinson Disease", which described the discovery of three new genes associated with the risk and age-of-onset for Parkinson disease. Learn more.

CHG publication named ``Fast Breaking'' by Essential Science Indicators
The organization, Essential Science Indicators (ESI) monitors trends in science through quantitative analysis of more than 11,000 scientific journals worldwide and named ``Complement factor H variant increases the risk of age-related macular degeneration'' the most frequently cited paper in the multidisciplinary field. The paper was published in the journal Science by researchers from the Duke CHG and the Duke University Eye Center along with their collaborators at Vanderbilt University. Read an interview with CHG Director Dr. Margaret Pericak-Vance about the paper and the importance of AMD research.

Mechanisms of Disease: A Molecular Genetic Update on Hereditary Axonal Neuropathies
A number of genes that are defective in patients with the main forms of CMT2 have been identified. The known CMT2-related genes represent key players in the search for pathways and are likely to provide powerful tools for identifying targets for furture therapeutic intervention.
See article in Nature.

Complex Gene Interactions Account for Autism Risk
Duke CHG researchers have uncovered some of the first evidence that complex genetic interactions account for autism risk. The Duke team found that the brain mechanism that normally stops or slows nerve impulses contributes to the disease.
See DukeMed News Press Release.

Interns Probe Genetics of Autism, Alzheimer�s Disease
Interns at Duke University�s Center for Human Genetics (CHG), are helping create better tools for exploring the genetics of complex human diseases.
See article in BRC Bioinformatics

CHG Researchers Implicate Chronic Kidney Disease Gene
A research team at the Duke Center for Human Genetics (CHG) has discovered a gene responsible for one form of chronic kidney disease. The disease, called familial focal segmental glomerulosclerosis, can lead to complete kidney failure and affects 20 percent of patients on dialysis.
See DukeMed News Press Release.

CHG Researchers Identify First Major Gene for Age-Related Macular Degeneration
A research team at the Duke Center for Human Genetics (CHG) has pinpointed the first major gene that contributes to an individual�s risk for developing age-related macular degeneration (AMD). AMD is a chronic, progressive disease that affects as many as 15 million people in the United States. It is the leading cause of visual impairment and legal blindness in the elderly.
See DukeMed News Press Release.

Gene With Broad Role Also Causes Prevalent, Inherited Nerve Disorder
CHG researchers report that a defect in the dynamin 2 gene underlies one form of nerve disorder, Charcot-Marie-Tooth disease (CMT). Their findings also reveal a link between CMT and a deficiency of white blood cells.
See DukeMed News Press Release.

Genetic Basis of Hereditary Nerve Disorder CMT Revealed
New Duke CHG research findings suggest a major form of Charcot-Marie-Tooth disease (CMT) stems from an abnormality in the cellular powerhouses, or mitochondria, that fuel the nerves required for muscle control.
See DukeMed News Press Release, or read the May issue of Nature Genetics.

"GSTO1 Gene Controls Age at Onset for Alzheimer and Parkinson Diseases" report Duke CHG researchers in Human Molecular Genetics.
See DukeMed News Press Release.

Distinct Genes Influence Alzheimer's Risk at Different Ages report Duke CHG researchers in the November 2003 issue of American Journal of Human Genetics.
See DukeMed News Press Release.

$4 Million Guilford Genomic Medicine Project, announced by Duke University, Moses Cone Health System and UNC- Greensboro, aims to help people develop personalized, genetic-based health plans.
See DukeMed News Press Release.

Genetic Risk Factor for Parkinson's Disease Discovered. CHG researchers Jeffery Vance and Joelle van der Walt published findings in the April 2003 issue of the American Journal of Human Genetics.
See DukeMed News Press Release.

GABRB3 Gene on Chromosome 15q linked to Autism. Research findings are published in the March 2003 issue of the American Journal of Human Genetics.
See DukeMed News Press Release.

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