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.

Scientists identify critical protein responsible for Ebola virus infection

In separate papers published online in Nature, two research teams report identifying a critical protein that Ebola virus exploits to cause deadly infections. The protein target is an essential element through which the virus enters living cells to cause disease.

25 Aug 2011

People with Down syndrome have diminished optokinetic, vestibular reflexes

A scientist investigating why those with Down syndrome often have poor balance and motor coordination has found that key eye reflexes are substantially altered.

25 Aug 2011

Scientists report molecular structural basis for sex organ, head deformities

Scientists this month reported the molecular structural basis for severe head deformities and ambiguous sex organs in babies born with Antley-Bixler syndrome accompanied by an enzyme deficiency.

20 Aug 2011

Mount Sinai to begin largest study of personalized medicine in clinical care setting

Mount Sinai School of Medicine has been awarded a $3.4 million grant over four years from the National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH) to begin the largest study of its kind, in which a patient's genomic risk for disease is revealed in a lab, and then entered into an electronic medical record for use in determining treatment in the clinical care setting.

19 Aug 2011

Gene Security Network announces commercial launch of non-invasive prenatal test

Gene Security Network Inc. (GSN) today announced the commercial launch of its first non-invasive prenatal test powered by the company's proprietary bioinformatics technology, Parental Support™.

18 Aug 2011

World's top genetic scientists to present latest research findings at ICHG/ASHG 2011 Meeting

The world's top scientists and clinicians in the human genetics field will gather to present their latest research findings at the 12th International Congress of Human Genetics (ICHG) / 61st Annual Meeting of the American Society of Human Genetics (ASHG), which will be held on October 11-15, 2011, in Montreal (Quebec), Canada, at the Montreal Convention Center.

17 Aug 2011

FDA clears Resonance Health's MRI-Q System for cardiac T2* iron assessment

Resonance Health Ltd, a medical device company specializing in imaging core laboratory services has received FDA clearance to market its MRI-Q System.

16 Aug 2011

Green tea shows promise against two types of tumors, HHS

A compound found in green tea shows great promise for the development of drugs to treat two types of tumors and a deadly congenital disease. The discovery is the result of research led by Principal Investigator, Dr. Thomas Smith at The Donald Danforth Plant Science Center and his colleagues at The Children's Hospital of Philadelphia.

16 Aug 2011

Gene therapy cocktail can treat inherited diseases with 'misfolded' proteins

In a kind of molecular gymnastics, scientists at the University of North Carolina at Chapel Hill School of Medicine have devised a gene therapy cocktail that has the potential to treat some inherited diseases associated with "misfolded" proteins.

16 Aug 2011

NPL scientists mimick the ways viruses infect human cells and deliver genetic material

Scientists at the National Physical Laboratory (NPL) have mimicked the ways viruses infect human cells and deliver their genetic material. The research hopes to apply the approach to gene therapy - a therapeutic strategy to correct defective genes such as those that cause cancer.

12 Aug 2011

Pink or blue – now find out at 7 weeks of pregnancy

Now a simple blood test can determine a baby’s sex as early as seven weeks into pregnancy and is highly accurate if used correctly. Experts believe this will have a great impact on parents concerned about gender-linked diseases and those who are merely curious, as well as people considering the more ethically controversial step of selecting the sex of their children.

10 Aug 2011

New genetic cause of retinitis pigmentosa

Combining the expertise of several different labs, University of Iowa researchers have found a new genetic cause of the blinding eye disease retinitis pigmentosa (RP) and, in the process, discovered an entirely new version of the message that codes for the affected protein.

10 Aug 2011

Affymetrix announces commercialization of next-generation human transcriptome array

Affymetrix, Inc. today announced commercialization of the next-generation human transcriptome array demonstrated by Stanford University researchers to be superior to mRNA sequencing (RNA-Seq) in gene expression profiling studies.

8 Aug 2011

RNAi screen identifies Brd4 as a therapeutic target for acute myeloid leukemia

Scientists at Cold Spring Harbor Laboratory (CSHL) and five other institutions have used an unconventional approach to cancer drug discovery to identify a new potential treatment for acute myeloid leukemia.

4 Aug 2011

Pharming, Santarus reach SPA agreement with FDA for RHUCIN Phase III trial

Specialty biopharmaceutical company Santarus, Inc. and biotech company Pharming Group NV today announced that they have reached agreement with the U.S. Food and Drug Administration (FDA) on the design of a Phase III clinical study with the investigational drug RHUCIN under the Special Protocol Assessment (SPA) process that is intended to support the submission of a Biologics License Application.

4 Aug 2011