Category Archives: Human Genetics

While most of us recover from influenza after a week, it can be a very severe disease, and even fatal in rare cases, with no reason for physicians to have expected such an outcome. By analysing the genome of a little girl who contracted a severe form of influenza at the age of two and a half years, researchers at the Laboratory of Human Genetics of Infectious Diseases (a joint French-American international laboratory), which brings together researchers from Inserm, Paris Descartes University, and physicians from the Paris public hospitals (AP-HP; Necker Hospital for Sick Children), working at the Imagine Institute, and from The Rockefeller University in New York, have discovered that she has a genetic mutation, unknown until now, that causes a subtle dysfunction in her immune system. More generally, these results show that genetic mutations could be the root cause of some severe forms of influenza in children, and indicate in any event that immune mechanisms missing in this little girl are needed for protection against this virus in humans. These results are published in the journal Science. Seasonal influenza is an acute viral infection caused by the influenza virus. It is characterised by high fever, headaches, sore muscles, … Continue reading →

BETHESDA, MD, USA and VIENNA, AUSTRIA - Two of the world's largest professional societies of human geneticists have issued a joint position statement on the promise and challenges of non-invasive prenatal testing (NIPT), a new procedure to test blood drawn from pregnant mothers for Down syndrome and other chromosomal disorders in the fetus. The document addresses the current scope of and likely future improvements in NIPT technology, ways it may best fit with existing prenatal screening tools and protocols, options and priorities in its implementation, and associated social and ethical issues. The statement, drafted by the Social Issues Committee of the American Society of Human Genetics (ASHG) and the Public and Professional Policy Committee of the European Society of Human Genetics (ESHG), was published online March 18 in the European Journal of Human Genetics. Current prenatal screening protocols for common structural abnormalities in the chromosomes vary among countries and medical practices. Generally, though, pregnant women are offered a combined first-trimester screening (cFTS), a risk assessment test based on blood and ultrasound markers. Women who receive abnormal cFTS results undergo a second step of testing to confirm or deny whether the fetus has an abnormality such as Down syndrome. This second … Continue reading →

Photo: Chris Lund The blood of a thousand Icelanders. When the first Viking explorers began settling Iceland, none could have imagined that theirdescendants would pioneer thefuture of modern medicine by surveying the human genome. Fast forward 1000 years to today, whenanIcelandic company has revealedits success insequencing the largest-ever set of human genomes from a single population. The new wealth of genetic data has already begunchanging our understanding of human evolutionary history. It also sets the stage for a new era of preventive medicinebased on individual genetic risks fordiseases such as cancer and Alzheimers disease. Themilestone in genome sequencing comesfromdeCODE Genetics, a biopharmaceutical company inReykjavk, Iceland. Theirwork, published as four papers in the 25 March 2015 issue of the journalNature Genetics,has yielded new insights aboutthecommon human ancestor for the male Y chromosomenarrowed tosomewhere between 174,000 and 321,000 years agobased on their latest calculation of human mutation rates. Another part of their work discovered thatabout 7.7 percent of the modern-day population has rare knockout genesgenes that have beendisabled by mutations. Early research has also revealed a mutation in theABCA7gene,whichdoubles the risk of Alzheimers disease in Iceland and other populations dominated by European ancestry. These are just a handful of observations that have … Continue reading →

Two of the world's largest professional societies of human geneticists have issued a joint position statement on the promise and challenges of non-invasive prenatal testing (NIPT), a new procedure to test blood drawn from pregnant mothers for Down syndrome and other chromosomal disorders in the fetus. The document addresses the current scope of and likely future improvements in NIPT technology, ways it may best fit with existing prenatal screening tools and protocols, options and priorities in its implementation, and associated social and ethical issues. The statement, drafted by the Social Issues Committee of the American Society of Human Genetics (ASHG) and the Public and Professional Policy Committee of the European Society of Human Genetics (ESHG), was published online March 18 in the European Journal of Human Genetics. Current prenatal screening protocols for common structural abnormalities in the chromosomes vary among countries and medical practices. Generally, though, pregnant women are offered a combined first-trimester screening (cFTS), a risk assessment test based on blood and ultrasound markers. Women who receive abnormal cFTS results undergo a second step of testing to confirm or deny whether the fetus has an abnormality such as Down syndrome. This second step involves invasive procedures, such as amniocentesis, … Continue reading →

Human Genetics Lab Part 1 Vid Normal Mendelian inheritance patterns - single allele and multiple allele traits. By: Laura Anna See … Continue reading →

Human Genetics Lab Part 3 Vid Color-blindness. By: Laura Anna See … Continue reading →

Human Genetics Lab Part 2 Vid Pedigrees and inheritance of autosomal recessive traits. By: Laura Anna See … Continue reading →

Human Genetics Lab Part 4 Vid Human Blood Typing ABO System. By: Laura Anna See … Continue reading →

The discovery could help scientists develop more effective drugs to combat alcoholism Virginia Commonwealth University School of Medicine researchers have discovered a biological clue that could help explain why some drinkers develop a dependence on alcohol and others do not. The findings move researchers closer to identifying those at risk for addiction early and designing better drug treatments to help people stop drinking. About 18 million people in the United States have an alcohol use disorder, according to National Institutes of Health statistics. The vast majority go untreated. "There are few and inadequate pharmacological treatments to help people who want to stop drinking, because this is a terrifically difficult human genetics problem," said Jill C. Bettinger, Ph.D., associate professor in the Department of Pharmacology and Toxicology, VCU School of Medicine. "If we can better understand the molecular effects of alcohol, we can design more rational treatments and even warn people who are more susceptible to developing a dependence." Bettinger is the senior author of a paper, "SWI/SNF Chromatin Remodeling Regulates Alcohol Response Behaviors in Caenorhabditis Elegans and is Associated With Alcohol Dependence in Humans," published Feb. 23 in the journal Proceedings of the National Academy of Sciences. The paper describes … Continue reading →

Si celebra oggi la decima Giornata mondiale della sindrome di Down. Una data, il 21 marzo, che non stata scelta a caso visto che la sindrome nota anche come Trisomia 21. A scoprirla e a darle questo nome fu il genetista, pediatra e attivista francese Jrme Lejeune (19261994), proclamato servo di Dio dalla Chiesa cattolica. I suoi "21 Pensieri", che vi riproponiamo di seguito in inglese, con la promessa di tradurli presto, sono una manifesto in difesa della vita e della persona umana. 1. Human genetics can be summarized in this basic creed: In the beginning is the message, and the message is in life, and the message is life. And if the message is a human message, then the life is a human life. 2. Life has a very long history, but each of us has a very definite beginningthe moment of conception. 3. A month after conception, a human being is one-sixth of an inch long. The tiny heart has already been beating for a week, and the arms, legs, head and brain have already begun to take shape. At two months, the child would fit into a walnut shell: Curled up, she measures a little more than … Continue reading →