Category Archives: Human Genetics

University of Illinois at Chicago College of Medicine DEPARTMENT of MOLECULAR GENETICS INTRODUCTION Organization of the Course Required and Optional Texts General Introduction MENDELIAN INHERITANCE General Background categories of genetic diseases population frequencies modes of inheritance Mitosis and Meiosis Meiosis and Gametogenesis Pedigree Construction Modes of Inheritance autosomal dominant inheritance heterozygous affected phenotype hallmarks Punnett square pedigree variable expressivity late onset high recurrent mutation rate incomplete penetrance autosomal recessive inheritance introduction hallmarks carrier probabilities in a pedigree effects of consanguinity X-linked dominant inheritance hallmarks Punnett square pedigree lethality in males X-linked recessive inheritance pedigree Punnett square hallmarks Bayesian probability new mutations in genetic lethals sex limited inheritance mitochondrial inheritance Imprinting CHROMOSOMAL INHERITANCE Importance Karyotype Chromosome Replication Autosomal Chromosomal Abnormalities meiotic nondisjunction mitotic nondisjunction Robertsonian translocation isochrome formation Sex Chromosome Abnormalities Lyon hypothesis Barr bodies Turner syndrome Klinefelter syndrome XYY and XXX syndromes Non-Meiotic Chromosome Abnormalities Inversions Ring Chromosomes Translocations (non-Robertsonian) Uniparental Disomy MULTIFACTORIAL INHERITANCE Importance Regression to the mean Polygenic Inheritance The Multifactorial Model Concordance Threshold Model of Disease Degree of Relationship and Genes in Common Two Threshold Diseases Severity of Disease and Recurrence Risk Multiple Affected Offspring and Recurrence Risk Consanguinity Hallmarks of Multifactorial Inheritance LINKAGE AND MAPPING Introduction … Continue reading →

dead paradise 4 walkthrough part 4 genetic labs mutants and more what even?! GENETIC LABS MADE BY B.W.S.I.G.D H.G Bacterial Weaponry System Investigations of Global Destruction and Human Genetics. By: gaming … Continue reading →

is a non-profit organization. Its aims are to promote research in basic and applied human and medical genetics, to ensure high standards in clinical practice and to facilitate contacts between all persons who share these aims, particularly those working in Europe. The Society will encourage and seek to integrate research and its translation into clinical benefits and professional and public education in all areas of human genetics. The ESHG truly appreciates the nomination of a total of 14 candidates for board membership this year. They will run for the 5 vacancies within the ESHG Board. Vote for your favourite candidates. NOTE: Only current ESHG Members are can vote. You will need to be logged in and have the voting code sent to you by email. Access the member area 25.Mar.2015 Two of the worlds 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 … Continue reading →

Color Blindness - Human Genetics Assignment Description. By: Emily Faris … Continue reading →

Contact Information Available for logged-in reporters only Newswise Genetic studies in humans, zebrafish and mice have revealed how two different types of genetic variations team up to cause a rare condition called Hirschsprungs disease. The findings add to an increasingly clear picture of how flaws in early nerve development lead to poor colon function, which must often be surgically corrected. The study also provides a window into normal nerve development and the genes that direct it. The results appear in the April 2 issue of the American Journal of Human Genetics. About one in every 5,000 babies is born with Hirschsprungs disease, which causes bowel obstruction and can be fatal if not treated. The disease arises early in development when nerves that should control the colon fail to grow properly. Those nerves are part of the enteric nervous system, which is separate from the central nervous system that enables our brains to sense the world. The genetic causes of Hirschsprungs disease are complex, making it an interesting case study for researchers like Aravinda Chakravarti, Ph.D., a professor in the Johns Hopkins University School of Medicines McKusick-Nathans Institute of Genetic Medicine. His research group took on the condition in 1990, and … Continue reading →

BETHESDA, Md., April 2, 2015 /PRNewswire-USNewswire/ -- At its 2015 ACMG Annual Clinical Genetics Meeting in Salt Lake City, the American College of Medical Genetics and Genomics (ACMG) announced the election of five new directors to its Board. Members of the ACMG Board of Directors serve as advocates for the ACMG and for forming and advancing its policies and programs. ACMG is the national organization for the medical genetics profession. "It's an eventful time in medical genetics and genomics. We are excited to add these outstanding individuals to our Board," said Michael S. Watson, PhD, FACMG, ACMG Executive Director. "The College's Board consists of experienced and skilled individuals with diverse medical backgrounds within genetics to represent the broad range of work that our members do. Each new Board member brings singular talents, insights, and experience that will enhance the College's mission." The five newly-elected directors will serve six-year terms from April 2015 to March 2021. Louanne Hudgins, MD, FACMG:President-Elect ACMG President-elect Dr. Louanne Hudgins received her MD from the University of Kansas. She completed her internship/residency in Pediatrics and her fellowship in Human Genetics at the University of Connecticut. Dr. Hudgins is board certified in medical genetics. She is currently … Continue reading →

Researchers have identified a new genetic mutation at the heart of a severe and potentially deadly seizure disorder found in infants and young children. The finding, which was reported today in the journal American Journal of Human Genetics, may help scientists unravel the complex biological mechanism behind these diseases. "These findings allow us to open up what was, up to this point, a 'black box' and more fully understand the biological pathways associated with these disorders and why some individuals do not respond to treatment," said Alex Paciorkowski, M.D., an assistant professor of Neurology at the University of Rochester Medical Center (URMC) and lead author of the study. Epileptic seizures are the result of bursts of electrical activity in the brain caused when groups of neurons fire in an abnormal pattern. The study out today focuses on a severe form of seizure disorders - early myoclonic encephalopathy, Ohtahara syndrome, and infantile spasms - collectively referred to as developmental epilepsies. These seizures appear early in life, in some instances hours after birth, and can be fatal. Individuals with the condition who survive beyond infancy will often struggle for the rest of their lives will developmental disabilities, autism, and uncontrollable seizures. The … Continue reading →

The Broad Institute of MIT and Harvard have expanded their collaboration with Bayer HealthCare to include cardiovascular genomics and drug discovery. The goal of this new part of the alliance is to leverage insights from human genetics to help create new cardiovascular therapies. "It is exciting to be expanding on our ongoing, successful partnership with Bayer in oncology," said Professor Eric Lander, President and Director of Broad Institute. "We are looking forward to a fruitful collaboration combining Bayer's expertise in the cardiovascular therapeutic area with Broad's deep knowledge of genomics and biology". Cardiovascular genomics is an emerging field of cardiology that uses genomic information to characterize disease risk and identify new therapeutic targets for drug discovery. Cardiovascular disease is responsible for approximately one-third of all deaths worldwide each year. While a majority of cardiovascular disease can be associated with lifestyle factors such as tobacco consumption, diet, and level of physical activity, risk genes can influence the predisposition to cardiovascular disease, age of onset, and severity. "We are excited to broaden our collaboration with the Broad Institute to the area of cardiovascular genomics to discover genes and mutational changes underlying cardiovascular disorders in order to develop new therapies and diagnostic options … Continue reading →

IMBB Seminar - Eva DASKALAKI, February 27th 2015 @ 12:00 IMBB SEMINAR Eva DASKALAKI Archaeological Research Laboratory Department of Archaeology and Classical Studies Stockholm University Title: "Ancient DNA and human genetics". Friday ... By: IMBB … Continue reading →

Learning from Traditional Societies An expert discusses his study of traditional native societies, which shows how human genetics have not adapted to change. By: Radio Health Journal … Continue reading →