Category Archives: Human Genetics

Public release date: 8-Nov-2012 [ | E-mail | Share ]

Contact: Cathy Yarbrough press@ashg.org 858-243-1814 American Society of Human Genetics

A research team reported that next generation sequencing of the exome, the 1 to 2% of the DNA containing the genes that code for proteins, enabled the identification of the genetic causes of unexplained intellectual disability in over 50% of patients in a study conducted at Radboud University Medical Centre in Nijmegen, The Netherlands.

"Through next generation sequencing, we were able to discover mutations in genes that had not been previously linked to causing intellectual disability," said Marjolein Willemsen, M.D., Ph.D., who presented the research today (Nov. 8) at the American Society of Human Genetics 2012 meeting in San Francisco.

Correctly diagnosing children with intellectual disability (ID) can lead to early intervention and special education programs, vocational training and health screenings for associated conditions that will enable them to reach their full potential, said Dr. Willemsen of Radboud's department of human genetics.

Genetic diagnosis "is of major importance for the care and counseling of patients and families," Dr. Willemsen said. "Proper diagnosis provides insight into associated health and behavioral problems, prognosis and recurrence risk."

The cause of intellectual disability is unknown in more than half of patients with learning and other intellectual disabilities, which affect about 2% of the population, said Tjitske Kleefstra, M.D., Ph.D., also of Radboud University Medical Centre's human genetics department.

Participating in the Radboud University study were 253 patients with unexplained intellectual disability, most of whom were adults. They underwent a multidisciplinary clinical evaluation and a metabolic screen. Genome-wide analysis of each patient's DNA was also conducted, and specific genetic diagnostic tests were performed as needed.

Because they used both genetic tests and clinical evaluations, the researchers were able to correlate the biological as well as the behavioral features of each patient's intellectual disability with the DNA findings.

Intellectual disability can be a challenge to diagnose because a wide range of features characterizes these disorders, and the underlying genetic causes can vary widely, Dr. Kleefstra said. "As a result, many parents go from one doctor to another in search of a diagnosis and treatment for their child," she added.

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Unexplained intellectual disability explained by state-of-the-art genetic analysis

Public release date: 8-Nov-2012 [ | E-mail | Share ]

Contact: Cathy Yarbrough press@ashg.org 858-243-1814 American Society of Human Genetics

About 10.6% of the inherited genetic risk for developing coronary artery disease (CAD) can be explained by specific DNA variations, according to research reported today at the American Society of Human Genetics 2012 meeting.

The research, conducted by scientists in the CARDIoGRAMplusC4D consortium, pinpointed 20 previously unidentified mutations during a two-stage meta-analysis of 63,746 patients with CAD, which causes more deaths worldwide than any other disease.

These genetic variants generally were infrequently found in the DNA of the 130,681 individuals without heart disease who were in the control group.

The new mutations have boosted to 47 the total number of DNA variants that have thus far been linked to an increased risk for developing CAD, said Panos Deloukas, Ph.D., who co-led the study and heads the Genetics of Complex Traits in Humans research group at the Wellcome Trust Sanger Institute, Cambridge, UK.

Scientists had previously estimated that 30 to 60% of the variation in CAD might be attributable to genetic risk factors, according to a study published in 2005*. The research reported at ASHG 2012 expands the number of specific genes that are likely involved.

"We no longer assume that coronary heart disease is triggered by just a handful of genes, each with a strong effect on a person's risk for the disease," said Dr. Deloukas. "Our research supports the current assumption that heart disease risk is determined by a large group of genes, each with a modest effect on risk."

Identifying the genetic mutations that set the stage for CAD enables researchers to investigate the underlying mechanisms of the disease, which may lead to therapeutic targeting through drugs, he said.

Many of the newly identified variations are in genes that operate in biological pathways involved in the body's metabolism of lipids or fats as well as in inflammation.

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DNA variants explain over 10 percent of inherited genetic risk for heart disease

Public release date: 8-Nov-2012 [ | E-mail | Share ]

Contact: Cathy Yarbrough press@ashg.org 858-243-1814 American Society of Human Genetics

A consortium of scientists who are taking a novel approach in their research to detect the genetic variations that predispose individuals to type 2 diabetes provided an update of their findings at the American Society of Human Genetics (ASHG) 2012 meeting.

Among the project's novel characteristics is the ethnic diversity of the 10,000 individuals whose exomes, the 18,000 protein-coding genes, are being sequenced.

The researchers recruited 5,000 individuals with type 2 diabetes (T2D) from five major ancestry groups: African-American, East Asian, European, Hispanic and South Asian. The study population also includes an equal number of controls, individuals from these same ancestry groups who do not have T2D.

"Our hypothesis is that screening the exome in a range of diverse ethnic groups increases the range of variants of each gene surveyed, and thereby improves our ability to detect genes showing differences in the patterns of the DNA codes for proteins between individuals with type 2 diabetes and controls," said T.M. Teslovich, Ph.D., research fellow in statistical genetics at the University of Michigan, who presented the study at ASHG 2012.

The study is one of the three projects under the umbrella of the NIH-sponsored T2D-GENES (Type 2 Diabetes Genetic Exploration by Next-generation sequencing in multi-Ethnic Samples) study.

The scientists' approach also will enable them to determine whether there are T2D risk variants that are unique to an ancestry group.

An initial analysis of the data on 3,500 African-American, East Asian and South Asian individuals identified about 1.6 million single nucleotide variants (SNVs), 71.5% of which were previously unknown.

"Only about 89,000, or 5.6%, of the 1.6 million variants are present in all three groups," said Dr. Teslovich.

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Novel type 2 diabetes genetic study involves 5 major ancestry groups

Public release date: 8-Nov-2012 [ | E-mail | Share ]

Contact: Cathy Yarbrough press@ashg.org 858-243-1814 American Society of Human Genetics

Research findings confirming that de novo mutations represent a major cause of previously unexplained intellectual disability were presented on Nov. 8 at the American Society of Human Genetics 2012 meeting in San Francisco.

Josep de Ligt, M.Sc., bioinformatician and Ph.D. student in human genetics at Radboud University Nijmegen Medical Centre in The Netherlands, also reported findings lending support to the use of exome sequencing, which deciphers over 21,000 protein-coding genes and not the entire human genome, as a diagnostic assay to determine whether one or more genetic mutations explain a patient's intellectual disability.

The cause of intellectual disability, which represents a wide range of phenotypes, or observable biological characteristics, is unknown in at least 50% of patients.

Most individuals with intellectual disability without a known cause are the only members of their families with the condition. Because the cause of their child's cognitive impairment is unknown, parents are often baffled.

The child with a cognitive disability is often an "isolated case without family history of the condition," said de Ligt, adding that intellectual disability occurs in about 1% of the population,

By exome sequencing of 100 patients with unexplained cognitive impairment, de Ligt and his colleagues uncovered 79 genes with unique de novo mutations.

These de novo mutations were present in the DNA of the patients but not in that of their parents whose exomes also were sequenced.

"All de novo as well as X-linked mutations identified in this study were interpreted in the context of the clinical diagnosis," de Ligt pointed out.

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Exome sequencing: Potential diagnostic assay for unexplained intellectual disability

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The Hidden - (Blood For The Blood God, I Must Feed) - Video