Category Archives: Transhuman News

Medical Xpress

Mouse Genome Studies Show Disease Models and Sex Differences UC Davis With its similarity to human biology and ease of genetic modification, the laboratory mouse is arguably the preferred model for studying human genetic disease, but most of the mouse genome remains poorly understood. The IMPC is aiming to build a ... Characterizing the mouse genome reveals new gene functions and their role in human diseaseMedical Xpress Consortium Reports on First Efforts To Catalog Mammalian Gene FunctionGenomeWeb all 3 news articles »

Read more:
Mouse Genome Studies Show Disease Models and Sex Differences - UC Davis

June 26, 2017

For Hub City Times

MARSHFIELD Milwaukee Institute Inc. recently donated a high performance computing (HPC) system to Marshfield Clinic Research Institute (MCRI).

Dr. Peggy Peissig, director of MCRIs Biomedical Informatics Research Center, said the HPC will transform MCRIs ability to analyze patient health data and develop predictions that will assist physicians in identifying adverse events or ways to better care for patients.

That means that science done in our lab can be used quickly by providers to help patients during their appointments, Peissig said. Patients will receive the right treatments at the right dose at the right time. A person suffering from a particular disease can avoid a medication that could have an adverse effect. A patient can learn if they are susceptible to a certain type of cancer based on their genetic makeup. All this and more can be determined and used more quickly than we ever could before.

The gift will impact MCRIs ability to continue conducting research that ultimately improves patient care. The HPC system harnesses the power equivalent to hundreds of computers to solve problems and analyze large amounts of data.

We are in the era of big data, Peissig said. Medicine alone has nonillions of facts surrounding diagnoses, medications, laboratory, procedures, and genetics that we can analyze to unlock the mysteries of disease.

The Milwaukee Institute is a nonprofit organization focused on helping people learn, connect, and unlock the potential of technologies and high-growth businesses in the region. After deciding to move away from providing high performance computing assistance to academic and industrial researchers, the Institute offered to donate the computing equipment to MCRI to advance its research and patient care mission.

Our HPC system was configured for genomic and other health care-related applications, said John Byrnes, Milwaukee Institute chairman. Marshfield Clinic is a nationally recognized leader in genomic research, so we were pleased that the clinic can use this equipment to expand its associative studies in a very important way.

Marshfield Clinic has a long history of applying genomics to human health. Following a discovery by MCRIs Center for Human Genetics in 1989 involving variations in DNA sequences among humans, researchers in Marshfield developed the Marshfield genetic maps, which are used by researchers around the world to study the human genome.

Today, the Center for Human Genetics operates the countrys first population-based genetic research project, which works with health and genetic information provided by more than 20,000 central Wisconsin residents.

Read more:
High performance computing system donated to Marshfield Clinic - Hub City Times

Newswise HOUSTON (June 26, 2017) Thirty-six percent of Hispanic families in the U.S. with a common form of retinitis pigmentosa got the disease because they carry a mutation of the arrestin-1 gene, according to a new study from researchers at The University of Texas Health Science Center at Houston (UTHealth) School of Public Health.

Retinitis pigmentosa is a group of rare, genetic eye disorders in which the retina of the eye slowly degenerates. The disease causes night blindness and progressive loss of peripheral vision, sometimes leading to complete blindness. According to Stephen P. Daiger, Ph.D., senior author of the study, an estimated 300,000 people in the U.S. suffer from the disease, which gets passed down through families.

In the study published recently in Investigative Ophthalmology & Visual Science, UTHealth researchers found that in a U.S. cohort of 300 families with retinitis pigmentosa, 3 percent exhibited a mutation of the arrestin-1 gene. However, more than 36 percent of Hispanic families from the cohort exhibited the arestin-1 mutation and they all came from areas in the Southwestern U.S., such as Texas, Arizona and Southern California.

When I started studying retinitis pigmentosa in 1985, we set out to find the one gene that causes the disease. Thirty-three years later, weve found that more than 70 genes are linked to retinitis pigmentosa, said Daiger, a professor in the Human Genetics Center and holder of the Thomas Stull Matney, Ph.D. Professorship in Environmental and Genetic Sciences at UTHealth School of Public Health.

Some of the genes that cause retinitis pigmentosa are recessive, which means two mutations are required, and some are dominant, which means you only need one mutation. Arrestin-1 piqued Daigers interest because that particular mutation is dominant while all previously found mutations in the gene are recessive. This unexpected finding shows that even a single mutation in the gene is sufficient to cause the disease.

Daiger and his team have identified the genetic cause of retinitis pigmentosa for 75 percent of families in their cohort. Possible treatments for some forms of retinitis pigmentosa are being tested but are still limited. However, the speed at which companies are developing gene therapies and small molecule therapies gives reason to hope, he said. Daiger and his collaborators have begun to connect some of the patients in the retinitis pigmentosa cohort to clinical trials that treat specific genes.

I want our cohort families to know that even if there is not an immediate cure for their specific gene mutation, at this rate it wont be long until a therapy becomes available, said Daiger, who also holds the Mary Farish Johnston Distinguished Chair in Ophthalmology at McGovern Medical School at UTHealth.

UTHealth coauthors include Lori S. Sullivan, Ph.D.; Sara J. Browne, Ph.D.; Elizabeth L. Cadena; Richard S. Ruiz, M.D., and Hope Northrup, M.D. Additional co-authors are from Nationwide Childrens Hospital; Kellogg Eye Center at the University of Michigan; Retina Foundation of the Southwest; Casey Eye Institute at Oregon Health and Science University; Vanderbilt University and the Department of Molecular and Human Genetics at Baylor College of Medicine.

Support for the study, titled A novel dominant mutation in SAG, the arrestin-1 gene, is a common cause of retinitis pigmentosa in Hispanic families in the Southwestern United States, was provided by the William Stamps Farish Fund and the Hermann Eye Fund.

Additional support was provided by the National Institutes of Health (EY007142, EY009076, EY011500, EY010572 and K08-EY026650), a Wynn-Gund TRAP Award, the Foundation Fighting Blindness, the Max and Minnie Voelker Foundation and a grant to the Casey Eye Institute from Research to Prevent Blindness.

Original post:
Gene Mutation Linked to Retinitis Pigmentosa in Southwestern US Hispanic Families - Newswise (press release)

It's like someone has pressed fast-forward on the gene-editing field: A simple tool that scientists can wield to snip and edit DNA is speeding the pace of advancements that could lead to treating and preventing diseases.

Findings are now coming quickly, as researchers can publish the results of their work that's made use of the tool, called CRISPR-Cas9.

The tool, often called CRISPR for short, was first shown to be able to snip DNA in 2011. It consists of a protein and a cousin of DNA, called RNA. Scientists can use it to cut DNA strands at very precise locations, enabling them to remove mutated parts of genes from a strand of genetic material.

In the past year alone, dozens of scientific papers from researchers around the world have detailed the results of studies some promising, some critical that used CRISPR to snip out and replace unwanted DNA to develop treatments for cancer, HIV, blindness, chronic pain, muscular dystrophy and Huntington's disease, to name a few.

"The pace of basic research discoveries has exploded, thanks to CRISPR," said biochemist and CRISPR expert Sam Sternberg, the group leader of technology development at atBerkeley, California-based Caribou Biosciences Inc., which is developing CRISPR-based solutions for medicine, agriculture, and biological research.

Although it will be a few more years before any CRISPR-based treatments could be tested in people, "hardly a day goes by without numerous new publications outlining new findings about human health and human genetics that took advantage" of this new tool, Sternberg told Live Science.

Of course, humans are not the only species with a genome. CRISPR has applications in animals and plants, too, from disabling parasites, like those that cause malaria and Lyme disease, to improving the crop yields of potatoes, citrus and tomatoes.

"[CRISPR] is incredibly powerful. It has already brought a revolution to the day-to-day life in most laboratories," said molecular biologist Jason Sheltzer, principal investigator at the Sheltzer Lab at Cold Spring Harbor Laboratory in New York. Sheltzer and his team are using CRISPR to understand the biology of chromosomes and how errors associated with them may contribute to cancer.

I am very hopeful that over the next decade gene editing will transition from being a primarily research tool to something that enables new treatments in the clinic, said Neville Sanjana, of the New York Genome Center and an assistant professor of biology, neuroscience and physiology at New York University.

Here, we take a look at the recent advances in the fights against 10 diseases that demonstrate CRISPR's capabilities, and hint at things to come.

Read the original here:
10 Amazing Things Scientists Just Did with CRISPR - Live Science

UC Davis

Mice Provide Insight Into Genetics of Autism Spectrum Disorders UC Davis Because mice and humans share on average 85 percent of similarly coded genes, mice can be used as a model to study how genetic mutations impact brain development. Changes in mouse DNA mimic changes in human DNA and vice-versa. In addition ...

More here:
Mice Provide Insight Into Genetics of Autism Spectrum Disorders - UC Davis