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.

Familial Hypercholesterolaemia patients often inherit small-effect changes in several genes rather than a large-effect mutation in a single gene

Research published Online First in The Lancet provides new evidence that a substantial proportion of individuals with a clinical diagnosis of Familial Hypercholesterolaemia (FH) inherit a combination of small-effect changes in several genes (polygenic) rather than a large-effect mutation in a single gene (monogenic).

22 Feb 2013

Cancer genetics pioneer, Bert Vogelstein, awarded the Breakthrough Prize in Life Sciences

Bert Vogelstein, M.D., co-director of the Ludwig Center at Johns Hopkins and a Howard Hughes Medical Institute investigator has been awarded the Breakthrough Prize in Life Sciences. He was selected for his landmark work in cancer genomics and tumor suppressor genes.

21 Feb 2013

Tranylcypromine may also hold promise in treating sickle cell disease

An antidepressant drug used since the 1960s may also hold promise for treating sickle cell disease, according to a surprising new finding made in mice and human red blood cells by a team from the University of Michigan Medical School.

19 Feb 2013

Article details mechanism by which long non-coding RNA-activators promote gene expression

Long segments of RNA- encoded in our DNA but not translated into protein-are key to physically manipulating DNA in order to activate certain genes, say researchers at The Wistar Institute. These non-coding RNA-activators (ncRNA-a) have a crucial role in turning genes on and off during early embryonic development, researchers say, and have also been connected with diseases, including some cancers, in adults.

18 Feb 2013

Spherical nucleic acids could revolutionize biomedicine

Northwestern University's Chad A. Mirkin, a world-renowned leader in nanotechnology research and its application, has invented and developed a powerful material that could revolutionize biomedicine: spherical nucleic acids (SNAs).

16 Feb 2013

HRI to begin enrollment in RAD001 Phase II trial for Neurofibromatosis Type-2

House Research Institute (HRI) is recruiting patients for a Phase II clinical trial to test a medication that may slow the progression of Neurofibromatosis Type-2, commonly referred to as NF2.

13 Feb 2013

New medication could help patients with renal tumours triggered by tuberous sclerosis

In collaboration with the Berlin TSC Centre, Charité - Universitätsmedizin Berlin has developed a new therapy for patients suffering from renal tumours associated with the rare genetic disease tuberous sclerosis (TSC).

13 Feb 2013

Enzyme therapy slows progression of Batten disease in dogs

Batten disease is a rare, fatal genetic disorder that affects children. Currently, no effective treatment exists for the disease, which ultimately kills all who are affected. Dachshunds also suffer from Batten disease, and now researchers from the University of Missouri College of Veterinary Medicine and School of Medicine, in collaboration with BioMarin Pharmaceutical Inc., have developed a treatment for the disease that has significantly delayed the onset and progression of symptoms in the Dachshunds.

12 Feb 2013

Hyperion Therapeutics receives FDA approval for Ravicti to treat urea cycle disorders

The U.S. Food and Drug Administration today approved Ravicti (glycerol phenylbutyrate) for the chronic management of some urea cycle disorders (UCDs) in patients ages 2 years and older.

1 Feb 2013

One-step, off-the-shelf tool can help evaluate genetic cause of mitochondrial diseases

More powerful gene-sequencing tools have increasingly been uncovering disease secrets in DNA within the cell nucleus. Now a research team is expanding those rapid next-generation sequencing tests to analyze a separate source of DNA—within the genes inside mitochondria, cellular power plants that, when abnormal, contribute to complex, multisystem diseases.

29 Jan 2013

IOF-ESCEO Pre-Clinical Symposium to be held on April 18 in Rome, Italy

Investigators with an interest in pre-clinical and translational musculoskeletal research are invited to attend the 3rd IOF-ESCEO Pre-Clinical Symposium to be held on April 18, in Rome, Italy.

29 Jan 2013

Evidence links HPV16 to focal cortical dysplasia type IIB

Researchers at Shriner's Hospital Pediatric Research Center at the Temple University School of Medicine, and the University of Pennsylvania have evidence linking the human papillomavirus 16 (HPV16) - the most common cause of cervical cancer - to a common form of childhood epilepsy.

28 Jan 2013

Counsyl, ARUP partner to expand pregnancy genetic test offering for prospective parents

Counsyl has partnered with ARUP Laboratories, a nonprofit enterprise of the University of Utah, to expand its pre-pregnancy and early pregnancy genetic test offering for prospective parents. ARUP's molecular genetic testing laboratory already provides a comprehensive set of testing options for a broad range of inherited disorders.

28 Jan 2013

Vejthani ART Center provides innovative and high quality services

Vejthani Hospital Bangkok recommends Assisted Reproductive Technology Center at Vejthani ART Center, the way to bring your dream come true that you will be assured by our professional service.

25 Jan 2013

Researchers to develop new diagnostic tools and treatments for people with rare diseases

A multi-million Euro initiative is bringing together researchers from across the world to develop new diagnostic tools and new treatments for people with rare diseases and to connect research data in this area on a global scale.

25 Jan 2013

Clinical trial to evaluate cyclodextrin against Niemann-Pick disease type C1

A clinical trial to evaluate a drug candidate called cyclodextrin as a possible treatment for Niemann-Pick disease type C1 (NPC), a rare and fatal genetic disease, will start today, researchers announced.

24 Jan 2013

ParseCNV software can detect disease-causing copy number variations

A novel software tool, developed at The Children's Hospital of Philadelphia, streamlines the detection of disease-causing genetic changes through more sensitive detection methods and by automatically correcting for variations that reduce the accuracy of results in conventional software.

22 Jan 2013

UC Davis professor receives supplemental funds from Parent Project Muscular Dystrophy

Parent Project Muscular Dystrophy (PPMD) has awarded Dr. Craig McDonald of the University of California, Davis (UC Davis) $175,000 in supplemental funds to expand his ongoing study through the 20 CINRG (Cooperative International Neuromuscular Research Group) centers to better understand the progression of Duchenne muscular dystrophy (Duchenne) and determine the impact of the Duchenne standards of care established by the Centers for Disease Control (CDC).

19 Jan 2013

Stem cell transplantation prevents decrease in heart function associated with DMD

Researchers have shown that transplanting stem cells derived from normal mouse blood vessels into the hearts of mice that model the pathology associated with Duchenne muscular dystrophy (DMD) prevents the decrease in heart function associated with DMD.

16 Jan 2013

Clathrin protein may have a role in suppressing tumors

Newly published research by Indiana University structural biologist Joel Ybe and colleagues identifies a "topology switch" in the protein clathrin, the function of which may shed light on molecular processes involved in tumor suppression.