Category Archives: Human Genetics

PUBLIC RELEASE DATE: 30-May-2014 Contact: Mary Rice mary.rice@riceconseil.eu European Society of Human Genetics A new target that may be critical for the treatment of osteoporosis, a disease which affects about 25% of post-menopausal women, has been discovered by a group of researchers in The Netherlands and in Germany. Professor Brunhilde Wirth, Head of the Institute of Human Genetics, University of Cologne, Germany, will tell the annual conference of the European Society of Human Genetics tomorrow (Sunday) that new studies in zebrafish and mice have shown that injection of human plastin 3 (PLS3) or related proteins in zebrafish where PLS3 action has been suppressed can replace its loss and repair the bone development anomalies associated with this deficiency. Furthermore, overexpression of human (PLS3) in normal mice had a significant impact on bone development and maintenance, making them more resistant to fractures. The discovery that PLS3 mutations could cause osteoporosis was published last year in The New England Journal of Medicine. 1 The results came as a surprise to the researchers, since mutations in the PLS3 gene had not previously been known to be related to osteoporosis and fractures, or to play a role in bone formation. "In our most recent research, … Continue reading →

PUBLIC RELEASE DATE: 30-May-2014 Contact: Mary Rice mary.rice@riceconseil.eu European Society of Human Genetics Results from the first study of the clinical application of next generation DNA sequencing (NGS) in screening embryos for genetic disease prior to implantation in patients undergoing in-vitro fertilisation treatments show that it is an effective reliable method of selecting the best embryos to transfer, the annual conference of the European Society of Human Genetics will hear tomorrow (Sunday). Dr Francesco Fiorentino, from the GENOMA Molecular Genetics Laboratory, Rome, Italy, will say that his team's research has shown that NGS, a high throughput sequencing method, has the potential to revolutionise pre-implantation genetic screening (PGS). The technique can result in reduced cost, faster results, and accurate identification of good embryos resulting in more ongoing pregnancies, he will say. The researchers undertook a prospective, double blind trial using two methods of embryo screening, NGS, and the older method array-comparative genomic hybridisation (Array-CGH) of 192 blastocysts, or early embryos, obtained from 55 consecutive clinical pre-implantation genetic screening (PGS) cycles. Array-CGH was the first technology to be widely available for the accurate analysis of chromosomal abnormalities in the embryo and is used extensively across the world for this purpose. Fifty five … Continue reading →

CSHL Keynote: Dr. Peter Donnelly, Wellcome Trust Centre for Human Genetics "Genomic Discovery: Mechanisms of Meiotic Recombination" from the 2014 Biology of Genome Meeting. By: CSHL Leading Strand … Continue reading →

The Journal of Human Genetics is the official journal of the Japan Society of Human Genetics, publishing high-quality original research articles, short communications, reviews, correspondences and editorials on all aspects of human genetics and genomics. It is the leading genetics journal based in the Asia-Pacific region. *** Announcing Open *** Journal of Human Genetics now 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 FAQs page. Volume 59, No 4 April 2014 ISSN: 1434-5161 EISSN: 1435-232X 2012 Impact Factor 2.365* 91/161 Genetics & Heredity Editor-in-Chief: Naomichi Matsumoto *2012 Journal Citation Reports Science Edition (Thomson Reuters, 2013) Human Genome Variation (HGV) JHG's new sister journal Nature Publishing Group and the Japan Society of Human Genetics are collaborating to launch a new journal Human Genome Variation. Please visit HGV's marketing site for further details. The journal will begin considering submissions in March 2014 and publish its first articles in mid-2014. Editor's Choice - hot topics in human genetics Original post: Journal of Human Genetics - Nature … Continue reading →

Human Genetics Project Schizophrenia Project iMovie. By: Daniel Duffin … Continue reading →

Applications Of Human Genetics In Science Human genetics provides critical understanding of the occurrence, diagnosis and treatment of various genetic disorders and diseases which have a genetic basis. It is an integral part of several overlapping scientific fields that include: traditional genetics, cytogenetics, molecular and biochemical genetics, bioinformatics, genomics, population genetics, research and pharmaceuticals, clinical genetics and genetic counseling. Human genetics has contributed to vast developments and advances in scientific fields like human genomics through successful projects like the human genome project. This particular field emphasizes the application of genomic approaches to provide better understanding of human genetic diseases, the process of new drug discovery and studies of variable drug reaction due to different genetic make-up in persons. A better understanding of human genetics has also resulted in cooperative research between academicians and practitioners in the clinical and pharmaceutical industries as both have common aims of maximizing the potential scientific benefits of the Human Genome Project. The study has lead to advances in the science of pharmacogenomics, expression profiling, proteomics, use of bioinformatics and animal models in testing new drugs and therapeutic treatments. Human genetics has provided details about how genes are involved in genetic disorders. This in turn has … Continue reading →

Table of Contents The human karyotype | Human chromosomal abnormalities Human allelic disorders (recessive) | Human allelic disorders (dominant) Sex-linked traits | Diagnosis of human genetic diseases | Radioactive probes Links There are 44 autosomesand 2 sex chromosomes in the human genome, for a total of 46. Karyotypesare pictures of homologous chromosomes lined up together during Metaphase I of meiosis. The chromosome micrographs are then arranged by size and pasted onto a sheet. Click here for a larger picture. This picture is from The Primate Cytogenetics Network at ( http://www.selu.com/~bio/cyto/karyotypes/Hominidae/Hominidae.html). A common abnormality is caused by nondisjunction, the failure of replicated chromosomes to segregate during Anaphase II. A gamete lacking a chromosome cannot produce a viable embryo. Occasionally a gamete with n+1 chromosomes can produce a viable embryo. In humans, nondisjunction is most often associated with the 21st chromosome, producing a disease known as Down's syndrome (also referred to as trisomy21). Sufferers of Down's syndrome suffer mild to severe mental retardation, short stocky body type, large tongue leading to speech difficulties, and (in those who survive into middle-age), a propensity to develop Alzheimer's Disease. Ninety-five percent of Down's cases result from nondisjunction of chromosome 21. Occasional cases result from a … Continue reading →

In the study of rare disorders, four general patterns of inheritance are distinguishable by pedigree analysis: autosomal recessive, autosomal dominant, X-linked recessive, and X-linked dominant. The affected phenotype of an autosomal recessive disorder is determined by a recessive allele, and the corresponding unaffected phenotype is determined by a dominant allele. For example, the human disease phenylketonuria is inherited in a simple Mendelian manner as a recessive phenotype, with PKU determined by the allele p and the normal condition by P . Therefore, sufferers from this disease are of genotype p /p , and people who do not have the disease are either P /P or P /p . What patterns in a pedigree would reveal such an inheritance? The two key points are that (1) generally the disease appears in the progeny of unaffected parents and (2) the affected progeny include both males and females. When we know that both male and female progeny are affected, we can assume that we are dealing with simple Mendelian inheritance, not sex-linked inheritance. The following typical pedigree illustrates the key point that affected children are born to unaffected parents: From this pattern, we can immediately deduce simple Mendelian inheritance of the recessive allele … Continue reading →

Autopsies have revealed that some individuals develop the cellular changes indicative of Alzheimer's disease without ever showing clinical symptoms in their lifetime. Vanderbilt University Medical Center memory researchers have discovered a potential genetic variant in these asymptomatic individuals that may make brains more resilient against Alzheimer's. "Most Alzheimer's research is searching for genes that predict the disease, but we're taking a different approach. We're looking for genes that predict who among those with Alzheimer's pathology will actually show clinical symptoms of the disease," said principal investigator Timothy Hohman, Ph.D., a post-doctoral research fellow in the Center for Human Genetics Research and the Vanderbilt Memory and Alzheimer's Center. The article, "Genetic modification of the relationship between phosphorylated tau and neurodegeneration," was published online recently in the journal Alzheimer's and Dementia. The researchers used a marker of Alzheimer's disease found in cerebrospinal fluid called phosphorylated tau. In brain cells, tau is a protein that stabilizes the highways of cellular transport in neurons. In Alzheimer's disease tau forms "tangles" that disrupt cellular messages. Analyzing a sample of 700 subjects from the Alzheimer's Disease Neuroimaging Initiative, Hohman and colleagues looked for genetic variants that modify the relationship between phosphorylated tau and lateral ventricle dilation … Continue reading →

PUBLIC RELEASE DATE: 1-May-2014 Contact: Glenna Picton picton@bcm.edu 713-798-7973 Baylor College of Medicine HOUSTON (May 1, 2014) -- A team of researchers led by Baylor College of Medicine have identified the gene underlying a newly recognized genetic syndrome that has symptoms of sleep apnea, delayed speech and hyptonia, or generalized upper body weakness. The study published online today in the American Journal of Human Genetics. The Baylor researchers first studied a patient from Australia with these symptoms who had been seen by many doctors and had multiple diagnostic tests, without any diagnosis. Although there was no family history of the disease, the researchers performed DNA sequence analysis on the patient and her parents to determine if there was an underlying genetic cause for her symptoms. The results showed damaging mutations had newly arisen in five genes in the patient when compared with the parents DNA sequence. One gene was a candidate for causing the disease because similar mutations were never seen in healthy control individuals. "This led us to ask if there were any other undiagnosed disease cases that had similar mutations in this gene," said Dr. Fan Xia, assistant professor of molecular and human genetics and in the Whole … Continue reading →