Category Archives: Human Genetics

Age effect: Men and women at genetic risk for autism tend to become parents relatively late in life. Ghislain & Marie David de Lossy / iStock People who carry risk factors for autism but do not have the condition tend to have fewer children and have them later in life than do people at lower risk, according to a new study1. The study of more than 90,000 people focuses on common genetic variants, which occur in at least 1 percent of the population. Certain combinations of these variants are thought to increase the risk of autism. The study suggests that variants linked to autism also affect whether and when people have children. For instance, having variants that lead to social difficulties might make it hard to find a mate. It is clear that the brain is an important reproductive organ, says lead researcher Kri Stefnsson, founder of deCODE Genetics in Iceland. The findings,published 13 June in Nature Communications, may help to explain why autism is more prevalent among children who have older parents. Previous studies have suggested that sperm from older fathers is more prone to spontaneous mutations that boost autism risk. The new work supports another explanation: that people … Continue reading →

The father of a boy with a rare genetic mutation has accused a scientist of exploiting his child by proclaiming the defect a genetic syndrome and naming it after herself. At an impasse with scientists investigating, publicizing, and interpreting his sons condition, the father seems willing to use any leverage he can muster to remove the syndrome entry in an online genetic disease database. Based solely on an email he obtained from the database director, the father became convinced that if the paper underpinning the entry were retracted, the syndrome would go down with it. So earlier this year, he withdrew his consent and asked the journal that published the paper for a retraction, based on improper patient consent. He has also threatened to lob accusations of research misconduct at the papers last author. Marc Pieterse, of The Netherlands, is the father of Vincent, a teenager who has a mutation in the RPS23 gene that has only been found in one other person, so far. In March, an international team of researchers published a paper on Vincents RPS23 mutation in the American Journal of Human Genetics (AJHG), linking it to defective ribosomes, organelles involved in protein synthesis. One of the … Continue reading →

It appears, by all accounts, to be a momentous scientific achievement and possibly a turning point in human evolution. In a study released last week, scientists at Oregon Health and Science University confirmed they were able to modify genes in viable human embryos, proving the potential to permanently alter the makeup of a genetic line. In this case, that meant replacing and repairing a mutated gene that causes a common and deadly heart disorder. But the possibilities heralded by gene-editing technology are endless, the scenarios as divided as they are bold. In some visions, it leads to a population of designer babies or consumer eugenics. Others imagine a utopia of scientific advancement where humans live free of disease, and devastating conditions are eradicated for the betterment of humanity. What direction the technology will take is the topic of much debate. The big thing which is making the scientific and ethics community get excited, and on the other hand a little bit hot and bothered, is its a mechanism to change genes for multiple generations, says Dr. Alice Virani, a genetic counsellor and director of ethics at British Columbias Provincial Health Services Authority. There are two ways to look at it, … Continue reading →

DNA helices (Pixabay Photo/Labeled for Reuse) A new genetic technology is being called a weapon of mass destruction. Ill tell you why that may not be hyperbole. In late July, the MIT Technology Review published news many of us have been dreading: A team of scientists at Oregon Health and Sciences University have successfully created genetically-modified human embryos. This is an early step, to borrow a headline from the Technology Review, toward engineering the perfect baby. Its an early step in creating a parental arms race in which people with resources scramble to create their vision of the perfect baby, with, potentially, the eye color, intelligence, and other traits they desire. And its an early step in playing God with human genetics, one that could very well place humanity on intimate terms with the Devil. Using a technology known as CRISPR, which enables scientists to edit the genome of anything from bacteria to humans, the researchers [changed] the DNA of a large number of one-cell embryos in a way that demonstrated that it is possible to safely and efficiently correct defective genes that cause inherited diseases. Now that last part about genes that cause inherited diseases should sound familiar. Because … Continue reading →

Baylor College of Medicine is one of six U.S. institutions to receive a grant through the National Human Genome Research Institutes Clinical Sequencing Evidence-Generating Research Consortium, or CSER2. The four-year grant, including $2.8 million for fiscal year 2017, co-funded by the National Cancer Institute, will support Baylors new KidsCanSeq program that will compare the results of large-scale genomic testing, such as whole exome sequencing, to targeted clinical tests in childhood cancer patients at five sites across the state that serve a highly diverse patient population, including Texas Childrens Cancer Center. In addition to Texas Childrens Cancer Center, pediatric patients will be enrolled in KidsCanSeq at the Vannie E. Cook Childrens Cancer Clinic in McAllen, the Childrens Hospital of San Antonio, the University of Texas Health Science Center at San Antonio, and Cook Childrens Health Care System in Fort Worth. KidsCanSeq follows the Baylor Advancing Sequencing in Childhood Cancer Care(BASIC3) study at Baylor and Texas Childrens Cancer Center, which developed the initial protocols for performing clinical genomic testing of pediatric cancer patients, reporting results and communicating those results to families and oncologists. BASIC3 was part of the NHGRI Clinical Sequencing Exploratory Research program, a precursor to CSER2. Through BASIC3 we explored … Continue reading →

A day after a blockbuster report that researchers had edited harmful genetic mutations out of human embryos in an Oregon lab, an international group of genetics experts urged scientists against taking the next step. A panel of the American Society of Human Genetics, joined by representatives from 10 organizations scattered across the globe, recommended against genome editing that culminates in human pregnancy. Their views were published Thursday in the American Journal of Human Genetics. In the United States, the Food and Drug Administration forbids any medical use of gene editing that would affect future generations, and the agency strictly regulates experimental use of the technology in labs. But around the world, scientists sometimes circumvent restrictions like these by conducting clinical work in countries that have no such strictures. People who want to gain access to these techniques can find people willing to perform them in venues where they are able to do so, said Jeffrey Kahn, director of the Berman Center for Bioethics at Johns Hopkins University. That underscores the importance of international discussion of what norms we will follow. Indeed, some of the groups signing on to the new consensus statement acknowledged that they inhabit parts of the world … Continue reading →

A Stanford professor of genetics discusses the thinking behind a formal policy statement endorsing the idea that researchers continue editing genes in human germ cells. A team of genetics experts has issued a policy statement recommending that research on editing human genes in eggs, sperm and early embryos continue, provided the work does not result in a human pregnancy. Kelly Ormond, MS, professor of genetics at the Stanford School of Medicine, is one of three lead authors of the statement, which provides a framework for regulating the editing of human germ cells. Germ cells, a tiny subset of all the cells in the body, give rise to eggs and sperm. Edits to the genes of germ cells are passed on to offspring. The statement, published today in the American Journal of Human Genetics, was jointly prepared by the American Society for Human Genetics and four other human genetics organizations, including the National Society of Genetic Counselors, and endorsed by another six, including societies in the United Kingdom, Canada, Australia, Africa and Asia. Germline gene editing raises a host of technical and ethical questions that, for now, remain largely unanswered. The ASHG policy statement proposes that federal funding for germline genome … Continue reading →

Human genetics is the study of how genes influence human traits, diseases, and behaviors, including how genetic and non-genetic factors interact. Public health genetics applies advances in human genetics and genomics to improve public health and prevent disease. Genetic counselors work as members of a health care team, providing information and support to patients dealing with birth defects or genetic disorders and those who may be at risk for inherited conditions. The program emphasizes the study of genetic mechanisms related to the transition from normal to disease states, and studies how genes and the environment interact to affect the distribution of health and disease in human populations. Human genetics research has helped answer fundamental questions about human nature and led to the development of effective treatments for many diseases that greatly impact human health. Faculty in the Department of Human Genetics have developed and used genetic methods to investigate the causes and treatment of hereditary and acquired human illness and to understand and explore the impact of genetics on public health, education, and disease prevention. View original post here: Human Genetics | Pitt Public Health | University of Pittsburgh … Continue reading →

The world learned the details of the Islamic States systemic rape and slavery of women through shocking stories told to the New York Times in 2015.Our collective outrage also showed how war has changed. Rape, torture and slavery are considered beyond taboo; they are criminalized even in war. This archaic behavior is not supposed to happen in our modern world. But thats a pretty recent development. Systemic rape used to go hand in hand with war as women, resources and landswere assimilated into the victors communities. The victorious menhad more children, more land and more power. Some researchers have argued that this is proof of the deep roots theory of war: Human males fight each other for reproductive advantage, proving that war is an evolutionary advantageous behavior. But this theory has been hard to prove. In fact, studies of human groups and other primates have added to the evidence both for and against the controversial idea that humans were made for war, evolutionarily speaking. A January 2015study indicates that societies dont actually benefit from head-to-head action, though other forms of violence do pay off. Harvard evolutionary biologists Luke Glowaki and Richard Wrangham studied the Nyangatom people of East Africa. The … Continue reading →

William (Jack) Schull, Ph.D., professor emeritus and founder of the Human Genetics Center at UTHealth School of Public Health, died at age 95 on Tues., June 20, 2017. He was born March 17, 1922. Memorial service information is unavailable at this time. Schull was married to Victoria (Vicki) Margaret Novak for 63 years, until her death on Oct. 13, 2009 at the age of 87. Read his obituary in the Japan Times. Schull was known as one of the most accomplished scientists in the Texas Medical Center and was world-renowned for his work on the effects of atomic radiation with the Atomic Bomb Casualty Commission (ABCC) in Japan. Together, Schull and James V. Neel, Ph.D., studied the genetic effects from ionizing radiation exposure and the results revealed the risk for cancer and mental retardation following exposure to such radiation. Much of what is known today regarding the impact of radiation exposure comes from their pioneering work. Schulls colleagues say that his death marks the end of an era. He influenced many people and fostered numerous careers, changing the field of genetics. Schull recruited Eric Boerwinkle, Ph.D., now dean of UTHealth School of Public Health and Kozmetsky Family Chair in Human … Continue reading →