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.

Study looks at reasons why sickle cell patients do not adhere to available treatment

Experiencing discrimination because of their race or health condition can influence just how much trust people put into the health profession.

10 Sep 2014

Prana's PBT2 receives FDA Orphan Drug designation for treatment of Huntington disease

Prana Biotechnology has today announced the US Food and Drug Administration has granted Orphan Drug designation to PBT2 for the treatment of Huntington Disease.

5 Sep 2014

Scientists aim to develop rapid test system for immune dysfunction to treat cystic fibrosis

Cystic fibrosis (CF) is a frequent genetic disease affecting the lung and the gastrointestinal tract. Scientists from the Helmholtz Zentrum München now have shown that many of the adult patients with CF in addition lack a cell surface molecule, which is important for immune defence. The results have been published recently in the 'Journal of Molecular Medicine'.

4 Sep 2014

Minnesota researchers develop animal research model for FSHD

Researchers at the University of Minnesota have developed an animal research model for facioscapulohumeral muscular dystrophy (FSHD) to be used for muscle regeneration research as well as studies of the effectiveness of potential therapies for FSHD.

29 Aug 2014

Amgen seeks FDA approval for evolocumab to treat patients with high cholesterol

Amgen today announced the submission of a Biologics License Application (BLA) to the U.S. Food and Drug Administration for evolocumab seeking approval for the treatment of high cholesterol.

28 Aug 2014

Isis Pharmaceuticals begins ISIS-APOCIIIRx Phase 3 study in FCS patients

Isis Pharmaceuticals, Inc. announced the initiation of a Phase 3 study evaluating ISIS-APOCIIIRx in patients with familial chylomicronemia syndrome (FCS). FCS is a rare orphan disease, characterized by extremely high triglyceride levels, that affects an estimated 3,000 to 5,000 patients worldwide.

28 Aug 2014

FDNA, London Medical Databases partner to offer online access to dysmorphology database

FDNA Inc. and London Medical Databases Ltd. announced today that they have partnered to offer, for the first time, online access to the award winning database exclusively through FDNA's solutions.

26 Aug 2014

Aldea Pharmaceuticals announces closure of $24M Series B equity financing

Aldea Pharmaceuticals, a company pioneering novel therapeutics to treat aldehyde metabolism disorders, today announced that it has closed a $24 million Series B equity financing.

25 Aug 2014

State highlights: Calif. audit finds hospital payroll wrongdoing; Ill. plans Medicaid contraception boost; Minn. union vote

Audits of a state prison and psychiatric hospital detail hundreds of thousands of dollars in improper payments and financial problems, including outright payroll fraud, and medical staff and guards receiving questionable bonuses and holiday pay, according to reports released Wednesday (St. John, 8/20).

22 Aug 2014

Penn Medicine launches CAROT to build novel therapies for retinal and ocular disorders

The Perelman School of Medicine at the University of Pennsylvania has launched the Penn Center for Advanced Retinal and Ocular Therapeutics (CAROT) to build on its previous success developing novel therapies for the personalized diagnosis and treatment of retinal and ocular disorders.

22 Aug 2014

Researchers restore missing repair protein in skeletal muscle of patients with muscular dystrophy

Advances in the treatment of muscular dystrophy: For the first time, a research team has succeeded in restoring a missing repair protein in skeletal muscle of patients with muscular dystrophy.

21 Aug 2014

New x-ray imaging system helps monitor effectiveness of treatment for cystic fibrosis

Scientists have developed an x-ray imaging system that enables researchers to see 'live' how effective treatments are for cystic fibrosis.

16 Aug 2014

Enzyme therapy may prevent skeletal abnormalities associated with neurofibromatosis type-1

An enzyme therapy may prevent skeletal abnormalities associated with the genetic disorder neurofibromatosis type-1, Vanderbilt investigators have discovered.

15 Aug 2014

Study shows castor bean oil reduces epileptic seizures related to Glut1 deficiency

Two years ago, the parents of Chloe Olivarez watched painfully as their daughter experienced epileptic seizures hundreds of times a day.

12 Aug 2014

New toolkits help young adults navigate shift from pediatric to adult health care

For young adults who have been diagnosed with a chronic condition like Type 1 diabetes or growth hormone deficiency, health concerns can add a degree of difficulty to transitions like leaving for college or living alone for the first time.

30 Jul 2014

Sequenom's total revenues increase 62% to $39.8 million in Q2 2014

Sequenom, Inc., a life sciences company providing innovative genetic analysis solutions, today reported total revenues of $39.8 million for the second quarter of 2014, an increase of 62% compared to revenues of $24.5 million for the second quarter of 2013.

From Quest Diagnostics 29 Jul 2014

Epigenetic switch can cause cancer, shows study

Cancer has long been thought to be primarily a genetic disease, but in recent decades scientists have come to believe that epigenetic changes - which don't change the DNA sequence but how it is 'read' - also play a role in cancer.

26 Jul 2014

Deleting enzyme favorably impacts behaviors associated with autistic behaviors

Fragile X syndrome (FXS) is a genetic disorder that causes obsessive-compulsive and repetitive behaviors, and other behaviors on the autistic spectrum, as well as cognitive deficits. It is the most common inherited cause of mental impairment and the most common cause of autism.

24 Jul 2014

FDA approves Ryanodex for treatment of malignant hyperthermia linked with anesthesia

Eagle Pharmaceuticals, Inc. today announced the U. S. Food and Drug Administration (FDA) has approved Ryanodex® (dantrolene sodium) for injectable suspension indicated for the treatment of malignant hyperthermia (MH), along with the appropriate supportive measures.