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Mitochondria are altered in human cell model of Parkinson's disease

Posted: Published on April 3rd, 2015

IMAGE:Images are of mitochondria from iPSC-derived dopaminergic neurons. The neuron on the left is from a "normal " or control iPSC line; the neuron on the right was derived from... view more Based on research in fruit flies, it has long been suspected that the most common mutation linked to both sporadic and familial Parkinson's disease (PD) wreaks its havoc by altering the function of mitochondria in neurons that produce the neurotransmitter dopamine. Using stem cells derived from patients who have PD, scientist at the Buck Institute have confirmed that finding in human cells for the first time. In research published in the April 2nd early online edition of Stem Cell Reports, Buck researchers also provide a valuable tool for testing potential treatments for the progressive, incurable neurodegenerative disease. "If we can find existing drugs or develop new ones that prevent damage to the mitochondria we would have a potential treatment for PD," said Buck faculty Xianmin Zeng, PhD, lead scientist on the study. "This is the first time we can show a real and observable change in mitochondria in human cells affected by a PD mutation," she said. Mitochondria are energy-producing organelles found in large numbers in most cells … Continue reading

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New genetic clues emerge on origin of Hirschsprung's disease

Posted: Published on April 3rd, 2015

Genetic studies in humans, zebrafish and mice have revealed how two different types of genetic variations team up to cause a rare condition called Hirschsprung's 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 Hirschsprung's 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 Hirschsprung's 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 Medicine's McKusick-Nathans Institute of Genetic Medicine. His research group took on the condition in 1990, and in 2002, it performed the first-ever genomewide association … Continue reading

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Researchers produce iPSC model to better understand genetic lung/liver disease

Posted: Published on April 3rd, 2015

(Boston)--Using patient-derived stem cells known as induced pluripotent stem cells (iPSC) to study the genetic lung/liver disease called alpha-1 antitrypsin (AAT) deficiency, researchers have for the first time created a disease signature that may help explain how abnormal protein leads to liver disease. The study, which appears in Stem Cell Reports, also found that liver cells derived from AAT deficient iPSCs are more sensitive to drugs that cause liver toxicity than liver cells derived from normal iPSCs. This finding may ultimately lead to new treatments for the condition. IPSC's are derived from the donated skin or blood cells of adults and, with the reactivation of four genes, are reprogrammed back to an embryonic stem cell-like state. Like embryonic stem cells, iPSC can be differentiated toward any cell type in the body, but they do not require the use of embryos. Alpha-1 antitrypsin deficiency is a common genetic cause of both liver and lung disease affecting an estimated 3.4 million people worldwide. Researchers from the Center for Regenerative Medicine (CReM) at Boston University and Boston Medical Center (BMC) worked for several years in collaboration with Dr. Paul Gadue and his group from Children's Hospital of Philadelphia to create iPSC from patients … Continue reading

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iPSC model helps to better understand genetic lung/liver disease

Posted: Published on April 3rd, 2015

Using patient-derived stem cells known as induced pluripotent stem cells (iPSC) to study the genetic lung/liver disease called alpha-1 antitrypsin (AAT) deficiency, researchers have for the first time created a disease signature that may help explain how abnormal protein leads to liver disease. The study, which appears in Stem Cell Reports, also found that liver cells derived from AAT deficient iPSCs are more sensitive to drugs that cause liver toxicity than liver cells derived from normal iPSCs. This finding may ultimately lead to new treatments for the condition. IPSC's are derived from the donated skin or blood cells of adults and, with the reactivation of four genes, are reprogrammed back to an embryonic stem cell-like state. Like embryonic stem cells, iPSC can be differentiated toward any cell type in the body, but they do not require the use of embryos. Alpha-1 antitrypsin deficiency is a common genetic cause of both liver and lung disease affecting an estimated 3.4 million people worldwide. Researchers from the Center for Regenerative Medicine (CReM) at Boston University and Boston Medical Center (BMC) worked for several years in collaboration with Dr. Paul Gadue and his group from Children's Hospital of Philadelphia to create iPSC from patients … Continue reading

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Cancer's relentless evolution

Posted: Published on April 3rd, 2015

All living things--from dandelions to reindeer--evolve over time. Cancer cells are no exception, and are subject to the two overarching mechanisms described by Charles Darwin: chance mutation and natural selection. In new research, Carlo Maley, PhD., and his colleagues describe compulsive evolution and dramatic genetic diversity in cells belonging to one of the most treatment-resistant and lethal forms of blood cancer: acute myeloid leukemia (AML). The authors suggest the research may point to new paradigms in both the diagnosis and treatment of aggressive cancers, like AML. Maley is a researcher at Arizona State University's Biodesign Institute and an assistant professor in ASU's School of Life Sciences. His work focuses on applying principles of evolutionary biology and ecology to the study of cancer. The group's findings appear in this week's issue of the journal Science Translational Medicine. The cells, they are a changin' A tumor is a laboratory for evolutionary processes in which nature experiments with an immense repertoire of variants. Mutations that improve a cell's odds of survival are "selected for," while non-adaptive cells are weeded out in the evolutionary lottery. Genetic diversity therefore provides cancer cells with a library of possibilities, with some mutations conferring heightened resistance to attack … Continue reading

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Adult Stem Cell Foundation – ADULT STEM CELL THERAPY IS …

Posted: Published on April 3rd, 2015

Australia - New Zealand - Asia & Pacific Rim - China - Italy The Foundation is a privately funded philanthropic (non profit) organization advising un-well people about how to gain access to Adult Stem Cell Therapy (ASCT). The Foundation is also promoting a plan to its members on how to prevent or limit the progression of degenerative diseases and other conditions. Degenerative disease is an escalating world problem that, if not controlled, could bankrupt our health systems. A major objective of the Foundation is to highlight that people suffering from degenerative conditions now have the option of considering Adult Stem Cell Therapy. This therapy may improve quality of life for sufferers of Arthritis, MS, Parkinsons, Diabetes, Stroke, Alzheimers, Spinal Cord injuries, Cancer or Chronic Pain to name a few. A stem cell transplant, instead of a joint replacement, is fast becoming the preferred first option for orthopedic surgeons. The Foundation intends to educate parents/carers of children suffering from a debilitating or degenerative condition like Cerebral Palsy, Muscular Dystrophy, Autism, Spinal injuries, Cystic fibrosis, ADHD etc. Stem cell treatments have progressed in leaps and bounds for these conditions. There are now state of the art clinics that specialize in treating the … Continue reading

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Profiles in Nanomedicine Research: Cademartiri – Video

Posted: Published on April 3rd, 2015

Profiles in Nanomedicine Research: Cademartiri By: ISUengineering … Continue reading

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Targeting Dangerous Inflammation Inside Artery Plaque

Posted: Published on April 3rd, 2015

New York, NY (PRWEB) April 03, 2015 A research team showed that a nanotherapeutic medicine can halt the growth of artery plaque cells resulting in the fast reduction of the inflammation that may cause a heart attack, according to a study led by researchers from Icahn School of Medicine at Mount Sinai and published April 3 in Science Advances. In just one week our novel cell proliferation-specific approach successfully suppressed atherosclerotic plaque growth and inflammation in mice engineered to mimic human vascular disease, says lead study author Jun Tang, MS, a PhD student at Icahn School of Medicine at Mount Sinai. Atherosclerosis is a major cause of death around the globe, and our nanomedicine strategy promises to offer a new way to reduce the number of heart attacks and strokes. Building upon a recent discovery by their Massachusetts General Hospital research collaborators that macrophage proliferation dictates atherosclerosis-related vessel wall inflammation, the Mount Sinai research team applied a nanomedicine strategy with a molecule of good cholesterol, or high-density lipoprotein (HDL), a naturally occurring shuttle that travels from the liver to arteries. The research team took advantage of HDLs natural travel routes, loading it with the widely-used cholesterol-lowering medication called simvastatin (Zocor), … Continue reading

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American College of Medical Genetics and Genomics Announces New Board Members: Dr. Louanne Hudgins is ACMG President …

Posted: Published on April 3rd, 2015

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

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Study finds new genetic clues to pediatric seizure disorders

Posted: Published on April 3rd, 2015

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

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