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.

Timely treatment with Berinert provides faster symptom relief for HAE patients

CSL Behring announced today that treatment with Berinert, C1 Esterase Inhibitor (Human) within six hours of the onset of an acute hereditary angioedema (HAE) attack provides faster symptom relief than later treatment, according to data presented at the 2012 American Academy of Allergy, Asthma & Immunology (AAAAI) Annual Meeting.

7 Mar 2012

Bevacizumab drug improves cardiac output in patients with HHT

In a small study that included 25 patients with hereditary hemorrhagic telangiectasia (a genetic disorder that leads to abnormalities of blood vessels) and severe liver involvement with this disease, patients who received the drug bevacizumab had improved cardiac output and a reduction in the duration and number of episodes of nose bleeds, a potentially life-threatening complication for patients with this disorder, according to a study in the March 7 issue of JAMA.

6 Mar 2012

PGen study to examine impact of consumer genomics

As genetic risk information plays an increasingly important role in the diagnosis and treatment of many diseases, private companies have made personal genomic testing for these risk factors widely available to the public. However, very little data has been gathered to understand the motivations and expectations of consumers of personal genomic services, the psychological and behavioral impact of these services, and the associated ethical, legal and social issues-until now.

5 Mar 2012

WUSTL scientists to decode DNA of 99 patients with rare diseases

Rare genetic diseases, long overlooked because they affect relatively few people, are getting new attention. Scientists at Washington University School of Medicine in St. Louis are reaching out to patient advocacy groups and offering to decode the DNA of 99 patients with rare diseases to help find the genetic alterations responsible for their illnesses.

3 Mar 2012

Review highlights potential strategies for treatment of Down syndrome, AD

Down syndrome (DS) is the most common genetic disorder in live born children arising as a consequence of a chromosomal abnormality. It occurs as a result of having three copies of chromosome 21, instead of the usual two. It causes substantial physical and behavioral abnormalities, including life-long cognitive dysfunction that can range from mild to severe but which further deteriorates as individuals with DS age.

2 Mar 2012

Alternative subunits generate different functional subtypes of RNA polymerases

Indiana University biologists have found that specific types of RNA polymerase enzymes, the molecular machines that convert DNA into RNA, can differ in function based on variation in the parts -- in this case protein subunits -- used to assemble those machines.

2 Mar 2012

Shire, arGEN-X partner to create novel antibodies against rare diseases

arGEN-X, a biopharmaceutical company focused on the discovery and development of human monoclonal antibodies from its proprietary SIMPLE Antibody platform, announces today that it has entered into an alliance with Shire to create novel therapeutic antibody products against multiple targets submitted by Shire.

29 Feb 2012

FDA grants orphan drug designation to Ultragenyx UX003 for treatment of MPS 7

Ultragenyx Pharmaceutical Inc., a biotechnology company focused on developing treatments for rare and ultra-rare genetic disorders, today announced that the FDA Office of Orphan Products Development has granted orphan drug designation for UX003 for the treatment of MPS 7.

28 Feb 2012

News briefs from featured presentations at Cardiology 2012

Pediatric cardiology researchers and clinicians from almost 50 centers from across the U.S. and around the world are gathering at the Cardiology 2012 Conference sponsored by The Children's Hospital of Philadelphia on Feb. 22-26 in Orlando, Fla.

27 Feb 2012

DANSR/FORTE assay more effective in diagnosing Edwards and Down syndrome

Using a noninvasive test on maternal blood that deploys a novel biochemical assay and a new algorithm for analysis, scientists can detect, with a high degree of accuracy, the risk that a fetus has the chromosomal abnormalities that cause Down syndrome and a genetic disorder known as Edwards syndrome.

22 Feb 2012

Infant colic may be an early sign of migraine headache later in life

New research suggests that mothers who experience migraine may be more likely to have a baby with colic than mothers without a history of migraine. Colic is defined as excessive crying in an otherwise healthy infant. The research was released today and will be presented at the American Academy of Neurology's 64th Annual Meeting in New Orleans April 21 to April 28, 2012.

21 Feb 2012

First study to evaluate motor impairments in children with ASD

Children with autism often have problems developing motor skills, such as running, throwing a ball or even learning how to write. But scientists have not known whether those difficulties run in families or are linked to autism. New research at Washington University School of Medicine in St. Louis points to autism as the culprit.

16 Feb 2012

Hospital apologizes to Amelia Rivera who was denied kidney transplant

Children's Hospital of Philadelphia has issued an apology to the parents of Amelia Rivera, a disabled three-year-old girl who, according to her parents, was initially denied a chance at a kidney transplant because she is “mentally retarded.”

15 Feb 2012

Chemists create new molecule that can tangle inside the DNA for up to 16 days

Chemists at The University of Texas at Austin have created a molecule that's so good at tangling itself inside the double helix of a DNA sequence that it can stay there for up to 16 days before the DNA liberates itself, much longer than any other molecule reported.

15 Feb 2012

U-M's first human embryonic stem cell line to be placed on the U.S.NIH registry

The University of Michigan's first human embryonic stem cell line will be placed on the U.S. National Institutes of Health's registry, making the cells available for federally-funded research. It is the first of the stem cell lines derived at the University of Michigan to be placed on the registry.

15 Feb 2012

Scientists identify and describe molecular mechanism behind holoprosencephaly

Researchers of the Max Delbr-ck Center for Molecular Medicine (MDC) Berlin-Buch have now identified and described a molecular mechanism underlying the most common malformation of the brain in humans. In holoprosencephaly (HPE), the forebrain (prosencephalon) is only incompletely formed.

14 Feb 2012

Researchers pinpoint source of Loeys-Dietz syndrome

A USC research team has pinpointed the source of a genetic disorder that causes life-threatening birth defects, which may allow doctors to quickly diagnose and better treat the disease.

14 Feb 2012

Scientists identify more than 100 new cases of alkaptonuria

Scientists at the University of Liverpool, working with international partners, have shown a rare genetic disease, that causes crippling osteoarthritis in the spine and major joints, is far more prevalent worldwide than previously thought.

14 Feb 2012

Benefits of long-term Kineret therapy in people with NOMID

A new study shows that Kineret (anakinra), a medication approved for the treatment of rheumatoid arthritis, is effective in stopping the progression of organ damage in people with neonatal-onset multisystem inflammatory disease.

13 Feb 2012

Researchers discover a startling feature of early brain development

Researchers at the Salk Institute have discovered a startling feature of early brain development that helps to explain how complex neuron wiring patterns are programmed using just a handful of critical genes. The findings, published February 3 in Cell, may help scientists develop new therapies for neurological disorders, such as amyotrophic lateral sclerosis (ALS), and provide insight into certain cancers.

13 Feb 2012