Category Archives: Human Genetics

Sequencing facility and shared postdoctoral program to support genetic discovery research to advance development of new treatments CAMBRIDGE, MA, and NEW YORK, NY (January 9, 2015) -- Biogen Idec (NASDAQ: BIIB) and Columbia University Medical Center have formed a $30 million strategic alliance to conduct genetics discovery research on the underlying causes of disease and to identify new treatment approaches. As part of this agreement, a sequencing and analysis facility and shared postdoctoral program will be established at Columbia to support collaborative genetics studies. The agreement will integrate genomics research conducted at Columbia with Biogen Idec's understanding of disease mechanisms and pathways, and expertise in discovering new medicines. "Our understanding of human genetics is rapidly expanding, and there is growing recognition that the elucidation of the genetic causes of disease will have a transformative effect on both patient care and drug development in many different diseases," said David Goldstein, PhD, founding director of Columbia University's Institute for Genomic Medicine. "This collaboration marries the exceptional drug development expertise of Biogen with cutting-edge genomics expertise at Columbia University Medical Center. It will not only focus on target identification and validation at the early stages of drug development, but also facilitate genetically informed … Continue reading →

I want to go back a second to the end of last time because in the closing moments there, we, or at least I, got a little bit lost, and where the plusses and minuses were at a certain table. And, I want to go back and make sure we've got that straight. We were talking about a situation where we were trying to use genetics, and the phenotypes that might be observed in mutants to try to understand the biochemical pathway because we're beginning to try to unite the geneticist's point of view who looks only at mutants, and the biochemist's point of view who looks at pathways and proteins. And, I had hypothesized that there was some biochemists who had thought up a possible pathway for the synthesis of arginine that involved some precursor, alpha, beta, gamma, where alpha is turned into beta; beta is turned into gamma; and gamma is used to turn into arginine. And, hypothetically, there would be some enzymes: enzyme A that converts alpha, enzyme B that converts beta, and enzyme C that converts gamma. And, we were just thinking about, what would the phenotypes look like of different arginine auxotrophs that had blocks … Continue reading →

A web focus from European Journal of Human Genetics This web collection is published in conjunction with the The EUROPEAN HUMAN GENETICS CONFERENCE 2014. The ESHG conference is where the latest developments in human genetics are discussed, and where professionals from all parts of human genetics meet. Follow the contributions to the latest debates in European Journal of Human Genetics Volume 23, No 1 January 2015 ISSN: 1018-4813 EISSN: 1476-5438 2013 Impact Factor 4.225* 76/291 Biochemistry & Molecular Biology 37/164 Genetics & Heredity Editor-in-Chief: G-J B van Ommen Thank you to everyone who attended our 'How to get published' session at ESHG. For those who didn't make it, please see our presentation and booklet which we hope will help with the whole process of publishing. On behalf of The European Journal of Human Genetics and NPG, we congratulate the 2013 Award Winners: Dr E.R. Maher Dr N.M. Myres Dr Javier Simn-Snchez European Journal of Human Genetics offers authors the option to publish their articles with immediate open access upon publication. Open access articles will also be deposited on PubMed Central at the time of publication and will be freely available immediately. Find out more from the press release or our … Continue reading →

A group of scientists has created artificial human sperm and eggs using human embryonic stem cells and skin cells. While researchers have already previously accomplished this using rodents, this is the first time they were able to replicate the process with human cells. Their final products were not actually working sperm and eggs, but rather germ cells that potentially could mature and become viable for fertility. The study's findings were published Wednesday in the journal Cell. "Germ cells are 'immortal' in the sense that they provide an enduring link between all generations, carrying genetic information from one generation to the next," Azim Surani, PhD, professor of physiology and reproduction at the University of Cambridge, said in a press release. 16 Photos Sperm wear hard hats and live for days? It's true, and that's just the beginning... When an egg is fertilized by a sperm, it begins to divide into a group of cells called a blastocyst, which is the stage right before the embryo is formed. Some of the cells inside this blastocyst cluster will develop into a fetus, while others eventually become the placenta. Some cells are set up to become stem cells, which will then have the potential … Continue reading →

Human Genetics I By: McIntoshBiology … Continue reading →

At least six million Americans who identify themselves as white have more "black" DNA than white people in other parts of the United States, according to a recent study published in the American Journal of Human Genetics. Several states, which have been the focal points of racial tensions in the U.S. over the years, are made up of self-described white people whose ancestors are black, the study claims. Researchers reportedly examined the genetic records of 145,000 people who submitted saliva samples -- where DNA sequence variations are found -- to 23andMe, a California-based private company that provides ancestry-related genetic reports. From the data, researchers determined that people especially from the South have at least 1 percent of African ancestry. The study also found that states with the highest levels of African ancestry, such as South Carolina, Georgia, and Florida, are not those with the highest proportions of African Americans. European Americans with African ancestry comprise as much as 12 percent of European Americans from Louisiana and South Carolina and about 1 in 10 individuals in other parts of the South, according to the study. The study also showed that people with less than 28 percent African ancestry identified themselves as … Continue reading →

HERBERT THE PERVERT (The Hidden Source) Enjoy the video? Subscribe! http://bit.ly/SubToSeaNanners What is The Hidden? "In the early 1950s human genetics experimentation was taking its first, tent... By: SeaNanners Gaming Channel … Continue reading →

Stem Cells: Tools for Human Genetics and Heart Regeneration Department of Medicine Grand Rounds presentation by Dr. Charles Murry, professor, Department of Pathology, Bioengineering and Medicine/Cardiology; Director, ... By: UWDeptMedicine … Continue reading →

Image: DEMIS Mapserver/Wikimedia commons Many Americans who identify as European actually carry African ancestry just as many Americans who identify as African carry European ancestry, finds an extensive new genetic analysis. DNA tells no lies, so the findings, published in the American Journal of Human Genetics, reveal just what a melting pot of different racial and ethnic groups exists in the United States. "Our study not only reveals the historical underpinnings of regional differences in genetic ancestry, but also sheds light on the complex relationships between genetic ancestry and self-identified race and ethnicity," study author Katarzyna Bryc of 23andMe and Harvard Medical School said in a press release. Bryc and her team studied DNA sequence variations called "single-nucleotide polymorphisms" in the genomes of more than 160,000 African Americans, Latinos and European Americans. Study participants provided saliva samples, where the DNA sequence variations were found. The researchers found that more than 6 million Americans who self-identify as European likely carry African ancestry. As many as 5 million self-described European Americans might have at least 1% Native American ancestry, according to the study. The researchers also determined that regional ancestry differences reflect historical events in the U.S., such as waves of immigration. … Continue reading →

Common methods used in human genetics analysis Human genetics Human matings, like those of experimental organisms, show inheritance patterns both of the type discovered by Mendel (autosomal inheritance) and of sex linkage. Because controlled. By: Nikolay's Genetics Lessons … Continue reading →