Autosomal News and Research

RSS

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

Massively parallel sequencing effective in diagnosing fetal aneuploidies

In a study to be presented today at the Society for Maternal-Fetal Medicine's annual meeting, The Pregnancy Meeting -, in Dallas, Texas, researchers will report findings that indicate that massively parallel sequencing can be used to diagnose fetal aneuploidies, including Down syndrome, Edwards syndrome, Patau syndrome and Turner syndrome.

13 Feb 2012

Defects in mitochondria lead to devastating neurodegenerative disease

A devastating neurodegenerative disease that first appears in toddlers just as they are beginning to walk has been traced to defects in mitochondria, the 'batteries' or energy-producing power plants of cells. This finding by a team of researchers, led by investigators from the Montreal Neurological Institute and Hospital - The Neuro- at McGill University, was published in this week's issue of the Proceedings of the National Academy of Sciences of the USA.

18 Jan 2012

Alnylam files CTA with the U.K. MHRA to initiate ALN-TTR02 Phase I trial in ATTR

Alnylam Pharmaceuticals, Inc., a leading RNAi therapeutics company, announced today that it has filed a Clinical Trial Application (CTA) with the U.K. Medicines and Healthcare products Regulatory Agency (MHRA) to initiate a Phase I clinical trial with ALN-TTR02, an RNAi therapeutic targeting transthyretin (TTR) for the treatment of TTR-mediated amyloidosis.

7 Jan 2012

Alzheimer's disease affects women more than men

Many women suffer memory loss and/or confusion at some point in their lives, but as many as 5 million Americans suffer from a much more serious disease, Alzheimer's. According to statistics from the National Institute on Aging, Alzheimer's disease is the most common form of dementia in older people. Alzheimer's is a progressive brain disease; it is irreversible and causes a decline in memory and cognitive skills.

1 Dec 2011

RA drug reduces kidney cyst growth in ADPKD mouse model

Scientists at UC Santa Barbara have discovered that patients with an inherited kidney disease may be helped by a drug that is currently available for other uses.

28 Oct 2011

Clues into how gene defects may cause ARPKD in babies

Babies born with autosomal recessive polycystic kidney disease (ARPKD) often develop kidney failure because they have very large kidneys filled with tiny cysts. Even with excellent medical care, about 30% die shortly after birth. New research now provides clues into how gene defects may cause this condition, which occurs in 1 out of 20,000 newborns.

22 Oct 2011

AICR recommends intake of cancer-fighting foods

Colleen Spees has always been interested in the role that diet played in disease, and set her sights on a career where she would counsel patients and train future dietitians. With multiple family members diagnosed with various types of cancer, Colleen decided to make the transition from clinical professional and nutrition educator to research scientist.

18 Oct 2011

ASHG to honor U of U geneticist with William Allan Award

As a teenager just moved to Iowa from war-ravaged Germany in 1951, John M. Opitz, M.D., wanted to study developmental biology, but his "very Prussian" mother insisted he go to medical school instead.

12 Oct 2011

Study identifies gene mutation responsible for higher frequency of Italian CDA II

Many of you might know that Congenital Dyserythropoietic Anemia type II (CDA II) is a rare blood disorder, due to a failure in final part of erythropoiesis. What will surprise you is the fact that some mutations responsible for the disease can be tracked 3.000 years back.

10 Oct 2011

New treatment strategy for dominant forms of muscular dystrophy

Investigators at The Research Institute at Nationwide Children's Hospital are studying a potential new treatment strategy for dominant forms of muscular dystrophy, thanks to preliminary funding from The Ohio State University Center for Clinical and Translational Science.

12 Sep 2011

GSK, NPS enter agreement to evaluate ronacaleret in new indications

NPS Pharmaceuticals, Inc., a specialty pharmaceutical company developing orphan therapeutics for rare gastrointestinal and endocrine disorders, today reported that it has entered into a new agreement with GlaxoSmithKline (GSK), that terminates and replaces a prior collaborative research and license agreement between NPS and GSK from 1993, which focused on the discovery and development of small molecule antagonists of the calcium receptor that increase secretion of parathyroid hormone.

3 Aug 2011

Targeting activity of PKD1 may be beneficial for treatment of polycystic kidney, liver disease

A single gene is central in the development of several forms of polycystic kidney and liver disease, Yale School of Medicine researchers report in the June 19 issue of Nature Genetics.

20 Jun 2011

Oncogene Aurora A may contribute to polycystic kidney disease

The Aurora A kinase may contribute to polycystic kidney disease (PKD) by inactivating a key calcium channel in kidney cells, according to a study in the June 13 issue of The Journal of Cell Biology.

13 Jun 2011

McGill research team finds distinct disease-causing mutations and saves baby girl

About two years ago, Dr. Philippe Gros, a McGill University professor in the Department of Biochemistry and a Principal Investigator in thd McGill Life Sciences Complex, described a mouse mutant that was immunodeficient and hypersensitive to the Bacille Calmette-Gu-rin (BCG) vaccine and to tuberculosis (TB).

12 May 2011

Mary Ann Liebert's peer-reviewed journal highlights latest developments in ocular gene therapy

Disorders of the eye are excellent targets for gene therapy because the ocular environment is readily accessible, relatively easy to monitor, and sequestered from the rest of the body.

10 May 2011

New genetic discovery in megalencephalic leukoencephalopathy with subcortical cysts

White matter disease covers a large group of disorders that affect the white matter, or myelin. In children these disorders are commonly genetic and often go undiagnosed. In new research, a team led by Raúl Estévez, a lecturer from the Department of Physiological Sciences II, based at the UB's Bellvitge Health Sciences Campus, working with the researcher Marjo van der Knaap, from the University Medical Centre at VU University Amsterdam, have identified mutant GLIALCAM as responsible for 25% of cases of megalencephalic leukoencephalopathy with subcortical cysts, a rare genetic disease affecting cerebral myelin.

4 May 2011

New discoveries on polycystin-1 can lead to novel kidney disease treatment

Two discoveries at UC Santa Barbara point to potential new drug therapies for patients with kidney disease. The findings are published in this week's issue of the Proceedings of the National Academy of Sciences.

27 Apr 2011

Exacerbate-reverse' approach can identify potential therapy for fatal childhood disease

Many genes that cause human diseases have parallel genes in other organisms, including yeast. Now Columbia University researchers have used an innovative yeast-based screening method to identify a possible treatment for the fatal childhood disease Niemann-Pick C.

19 Apr 2011

Israeli scientists identify genetic cause of hereditary spastic paraparesis

In a research collaboration blind to affairs of politics, ethnicity, and religion, an international team led by Israeli scientists has identified the genetic cause of a neurological disorder afflicting members of a Palestinian family.

12 Apr 2011