Genetic Disorder News and Research

RSS

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

Cystic fibrosis patient receives generous 'gift of life'

Meara Schmidt, 28, almost died a few weeks ago. Lying in her hospital bed at UCLA, the seriously ill cystic fibrosis patient felt herself slipping away and her life flashing by. But then the image of her husband appeared, and she knew she was not ready to go.

7 Jul 2012

New vaccine candidate against leading cause of hospital-acquired infections

Researchers at Brigham and Women's Hospital (BWH) have discovered a new vaccine candidate for the bacterium Pseudomonas aeruginosa taking advantage of a new mechanism of immunity.

7 Jul 2012

Researchers use maternal blood sample to sequence genome of an unborn baby

Researchers at the Stanford University School of Medicine have for the first time sequenced the genome of an unborn baby using only a blood sample from the mother.

5 Jul 2012

Scientists reprogram amniotic fluid cells without introduction of extra genes

Stem cells found in amniotic fluid can be transformed into a more versatile state similar to embryonic stem cells, according to a study published today in the journal Molecular Therapy. Scientists from Imperial College London and the UCL Institute of Child Health succeeded in reprogramming amniotic fluid cells without having to introduce extra genes.

4 Jul 2012

Deleting a single gene results in autism-like behavior

Deleting a single gene in the cerebellum of mice can cause key autistic-like symptoms, researchers have found. They also discovered that rapamycin, a commonly used immunosuppressant drug, prevented these symptoms.

2 Jul 2012

Scientists transplant stem cells from patients with limb-girdle muscular dystrophy into mice

Stem cells from patients with a rare form of muscular dystrophy have been successfully transplanted into mice affected by the same form of dystrophy, according to a new study published today in Science Translational Medicine.

28 Jun 2012

New compound could treat certain types of genetic disorders in muscles

Scientists at UCLA have identified a new compound that could treat certain types of genetic disorders in muscles. It is a big first step in what they hope will lead to human clinical trials for Duchenne muscular dystrophy.

28 Jun 2012

First clinical trial to test cardiac drug regimen for DMD

The first landmark randomized clinical trial for a cardiac drug regimen in Duchenne muscular dystrophy (DMD) is testing whether earlier treatment can stop or slow down heart damage that usually kills people with the disease.

27 Jun 2012

Greater awareness of MH and consequences of ryanodine receptor gene mutations

From the MHAUS President's Blog by MHAUS President, Henry Rosenberg, MD. A few months ago, I received a call from the MH Hotline who connected me to an anesthesiologist and OR team who were desperately trying to manage a Malignant Hyperthermia crisis.

26 Jun 2012

Inexpensive exome sequencing can quickly detect heterogeneous diseases

The first report of the diagnostic use of the technique of exome sequencing, where short sequences of DNA are analysed, shows that it can give good results at low cost, a researcher from The Netherlands will tell the annual conference of the European Society of Human Genetics.

25 Jun 2012

Smoking of fathers before conception can damage genetic information of their offspring

As you decide what to get dad for Father's Day, you might want to consider what he gave you when you were conceived. If he smoked, your genes are likely damaged, and your odds for cancers and other diseases throughout your life could be increased. A new research report appearing online in the FASEB Journal, scientists show for the first time in humans that men who smoke before conception can damage the genetic information of their offspring.

23 Jun 2012

Parents must be considered during expansion of genetic screening programs for newborns

Parents must be considered when states decide to expand genetic screening programs for newborns, according to a new study that looked at mandatory testing panels and political pressure by advocacy groups.

22 Jun 2012

FDA, EMA grant orphan drug designation to bluebird bio's gene therapy product for adrenoleukodystrophy

bluebird bio, a leader in the development of innovative gene therapies for severe genetic disorders, announced today that both the U.S. Food and Drug Administration (FDA) and the European Medicines Agency (EMA) have granted an orphan drug designation to its investigational gene therapy product for the treatment of adrenoleukodystrophy (ALD).

19 Jun 2012

Drug shows promise as skin cancer treatment

A new drug for a type of skin cancer caused by a rare genetic disease can not only substantially shrink the tumors, but can also prevent the growth of new cancers, US investigators have discovered.

15 Jun 2012

New U-M hESC lines now available for federally-funded research

Six new human embryonic stem cell lines derived at the University of Michigan have just been placed on the U.S. National Institutes of Health's registry, making the cells available for federally-funded research.

15 Jun 2012

Study reveals molecular link between aging and cancer

It has long been known that cancer is a disease of aging, but a molecular link between the two has remained elusive.

15 Jun 2012

Third Rock Ventures announces formation of Global Blood Therapeutics

Third Rock Ventures, LLC today announced the formation of Global Blood Therapeutics, Inc. and its $40.7 million Series A financing of the company.

15 Jun 2012

New tool should serve as cellular equivalent for children with CDG syndromes

Just as Gotham City uses the Bat Signal to call for Batman's aid, a new tool developed by scientists from the Sanford-Burnham Medical Research Institute in La Jolla, California, should serve as the cellular equivalent for children with glycosylation disorders, sometimes called "CDG syndromes."

13 Jun 2012

FDA grants Fast Track designation to Edimer’s EDI200 for treatment of XLHED

Edimer Pharmaceuticals, a biotechnology company focused on developing an innovative therapy for the rare genetic disorder, X-linked Hypohidrotic Ectodermal Dysplasia (XLHED), today announced the receipt of Fast Track designation from the U.S. Food and Drug Administration (FDA) for EDI200, the company's novel, proprietary, recombinant protein.

13 Jun 2012

Updated AAN guideline outlines treatments for infantile spasms

The American Academy of Neurology has issued an updated guideline outlining the best treatments for infantile spasms, a rare type of seizure that can occur in infants and young children.

12 Jun 2012