Genetic Disorder News and Research

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A genetic disorder is a disease caused in whole or in part by a "variation" (a different form) or "mutation" (alteration) of a gene.

Researchers find new way to transplant new blood-forming stem cells into bone marrow of mice

Researchers at the Stanford University School of Medicine have taken a small but significant step, in mouse studies, toward the goal of transplanting adult stem cells to create a new immune system for people with autoimmune or genetic blood diseases.

22 Nov 2007

Lung transplants for cystic fibrosis may not be such a good option

Researchers in the United States say lung transplants do little to improve the outcomes for children with severe cystic fibrosis (CF) and often increases their risk of dying.

22 Nov 2007

Human pluripotent stem cells without human cloning

Two major scientific papers published this week in Science and Cell unveil a proven way to generate patient-matched human pluripotent stem cells without human cloning, and without the use of human embryos or human or animal eggs.

21 Nov 2007

Researchers identify compound that eliminates myotonia - a symptom of muscular dystrophy

Researchers at the University of Rochester Medical Center (URMC) have identified a compound that eliminates myotonia - a symptom of muscular dystrophy - in mice. The research was published online in the Journal of Clinical Investigation.

16 Nov 2007

New clinical standards on the treatment of patients with cystic fibrosis

New clinical standards on the treatment of patients with cystic fibrosis (CF) have been released following an exhaustive review of all available literature.

16 Nov 2007

Human embryonic stem cells derived from preimplantation genetically diagnosed embryos

A human stem cell line derived from embryos that were identified by preimplantation genetic diagnosis (PGD) to carry the mutation for fragile X syndrome has provided an unprecedented view of early events associated with this disease.

15 Nov 2007

New understanding of how bacteria survive in hostile environments

Using an innovative device with microscopic chambers, researchers from four institutions, including Johns Hopkins, have gleaned important new information about how bacteria survive in hostile environments by forming antibiotic-resistant communities called biofilms.

14 Nov 2007

Hope on the horizon for hereditary angioedema sufferers

Although there is currently no treatment approved by the Federal Drug Administration (FDA) for acute attacks of hereditary angioedema (HAE) - a genetic disease causing swelling of extremities, face and internal organs that can be life-threatening - hope is on the horizon according to a team of experts presenting the latest research at the Annual Meeting of the American College of Allergy, Asthma and Immunology (ACAAI) in Dallas.

14 Nov 2007

Carnegie Mellon researchers to develop new stem cell-based drug delivery therapy

Carnegie Mellon University's Stefan F. Zappe is using adult neural stem cells to develop a new stem cell-based drug delivery therapy that may ultimately help treat a variety of inherited genetic disorders like Hunter syndrome.

5 Nov 2007

Family history of bipolar affects decision to have children

One in three people with a strong family history of bipolar disorder (manic depression) are reluctant to have children due to the hereditary nature of the illness and its perceived social stigma, new research from the University of New South Wales (UNSW) has found.

4 Nov 2007

The role of growth factor in vertebrae formation

The Stowers Institute's Pourquié Lab has demonstrated the role of fibroblast growth factor (FGF) in the embryonic process of somitogenesis, an event required for vertebrae formation, in a paper posted to the Web site of the journal Development.

31 Oct 2007

Not just humans benefit from animal biotechnology

Laboratory animals are the source of major discoveries and breakthroughs in biology, not just in tackling disease but also unravelling fundamental molecular processes.

25 Oct 2007

Stem cells to treat damaged eyes and a rare skin disorder

Doctors and scientists in Italy have shown how stem cells can be used to treat damaged eyes and, in combination with gene therapy, a rare and debilitating skin disease.

22 Oct 2007

Experts warn women about experimental fertility options

The American Society for Reproductive Medicine (ASRM) has warned women that two experimental fertility procedures currently being offered remain unproven.

22 Oct 2007

Oral medication restores missing protein in boys with muscular dystrophy

PTC124, an oral medication that changes the way muscle cells interpret genetic information, holds promise as a treatment for some patients with Duchenne muscular dystrophy (DMD), the Muscular Dystrophy Association ( http://www.mda.org/ ) announced today.

19 Oct 2007

Study identifies pathway required for normal reproductive development

Massachusetts General Hospital (MGH) clinical researchers, in collaboration with basic scientists from the University of California, Irvine (UC Irvine) have identified a new molecular pathway required for normal development of the reproductive, olfactory and circadian systems in both humans and mice.

17 Oct 2007

New technique to probe the dynamics of the Holliday junction

The Holliday junction is a four-stranded DNA structure that forms during a process known as homologous recombination, which occurs when damaged DNA is repaired. Understanding how DNA repairs itself is an essential step in ultimately developing therapies for genetic disorders.

17 Oct 2007

Discovery of protein that plays a key role in the recycling of iron from blood

Scientists working in the only lab at MIT doing hematology research have uncovered a protein that plays a key role in the recycling of iron from blood. Their work, described in the October 11 Journal of Clinical Investigation, could lead to new therapies for certain inherited blood disorders such as beta-thalassemia, a condition that causes chronic anemia.

12 Oct 2007

One injection of gene therapy spreads through brain in animal study

By targeting a site in a mouse brain well connected to other areas, researchers successfully delivered a beneficial gene to the entire brain - after one injection of gene therapy.

9 Oct 2007

Worm study sheds light on how the human body ages

Microscopic worms used for scientific research are living longer despite cellular defects, a discovery that is shedding light on how the human body ages and how doctors could one day limit or reverse genetic mutations that cause inherited diseases, according to a new University of Colorado at Boulder study.

2 Oct 2007