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.

Santaris Pharma paves way to conduct clinical trial of miravirsen in patients with HVC

Santaris Pharma A/S, a clinical-stage biopharmaceutical company focused on the discovery and development of RNA-targeted therapies, today announced that it has advanced miravirsen (SPC3649), the first microRNA-targeted drug to enter clinical trials, into Phase 2 studies to assess the safety and tolerability of the drug in treatment-naive patients infected with the Hepatitis C virus.

22 Sep 2010

Researchers identify new target for cystic fibrosis

The lab of Kevin Foskett, PhD, the Isaac Ott Professor of Physiology at the University of Pennsylvania School of Medicine, has found a possible new target for fighting cystic fibrosis (CF) that could compensate for the lack of a functioning ion channel in affected CF-related cells. Their finding appears in the Journal of Clinical Investigation.

18 Sep 2010

FDA grants AGTC $1M for Phase II human clinical trial in alpha-1 antitrypsin deficiency

Applied Genetic Technologies Corporation, a privately-held, clinical stage biotechnology company developing novel systems to deliver human therapeutics, announces that it has received a grant of $1 million from the Food and Drug Administration (FDA Orphan Drugs Program) to fund a Phase II Human Clinical Trial evaluating the safety and efficacy of a treatment for Alpha 1 Antitrypsin Deficiency (AAT), a genetic disease known to result in serious lung and/or liver disease.

17 Sep 2010

IVF on the rise in Australia: Report

According to a Federal Government report there are now more births via In Vitro Fertilization (IVF) treatment than ever before in Australia. There has been a 45% rise in the number of babies born through IVF and other treatments between 2004-08, according to the Australian Institute of Health and Welfare report released today. In 2008 there were 10,509 babies born through fertility treatments in Australia.

16 Sep 2010

Recommendations for developing novel therapies for hypertrophic cardiomyopathy

16 Sep 2010

bluebird bio publishes LentiGlobin gene therapy clinical trial data results

bluebird bio an emerging leader in the development of innovative gene therapies for severe genetic disorders, today announced publication in the journal Nature of its promising Phase 1/2 data highlighting positive results of LentiGlobin gene therapy treatment in a young adult with severe beta-thalassemia, a blood disorder that is one of the most frequent inherited diseases.

16 Sep 2010

Researchers recommend mechanism to identify hypertrophic cardiomyopathy

An abrupt, fatal heart attack in a young athlete on the playing field is a tragedy destined to repeat itself over and over until more is understood about hypertrophic cardiomyopathy (HCM), a genetic disorder that is the most common cause of sudden death in young people but which affects people of all ages. So says a task force of cardiologists and cardiac biologists, headed by Thomas L. Force, M.D., James C. Wilson Professor of Medicine at Thomas Jefferson University, in the September 14th online edition of the journal Circulation.

15 Sep 2010

Study finds new therapeutic target for polycystic kidney disease

In work suggesting a new approach to treating polycystic kidney disease (PKD), a leading cause of kidney failure, researchers at Children's Hospital Boston were able to block the formation of fluid-filled cysts, the hallmark of the disease, in a mouse model. Their findings, using a compound that inhibits a receptor known as c-Met, will be published in the September 13th online edition of the Journal of Clinical Investigation.

14 Sep 2010

Santarus expands development pipeline, adds two novel biologic drug candidates

Santarus, Inc., a specialty biopharmaceutical company, has expanded its development pipeline with the addition of two novel biologic drug candidates focused on specialty markets.

13 Sep 2010

Good Start Genetics to develop pre-pregnancy genetic test with completed $18M Series A financing

Good Start Genetics, Inc., today announced the completion of an $18 million Series A financing. The proceeds of this financing will be used to complete the development and launch of the Company's pre-pregnancy genetic test, which utilizes advanced DNA sequencing technology to screen for a panel of genetic disorders including those recommended by the American Congress of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG).

10 Sep 2010

Good Start Genetics $18 million Series A financing round co-led by Safeguard Scientifics

Safeguard Scientifics, Inc., a holding company that builds value in growth-stage life sciences and technology companies, today announced that it has co-led a $18 million Series A financing round for Good Start Genetics, Inc. with OrbiMed Advisors, LLC and SV Life Sciences Advisers LLP.

10 Sep 2010

Shire announces expansion of Human Genetic Therapies pipeline

Shire plc, the global specialty biopharmaceutical company, today announced the expansion of its Human Genetic Therapies pipeline through the exclusive license, in markets outside of North America, for the activin receptor type IIB class of molecules being developed by Acceleron Pharma Inc., a private biotechnology company based in Cambridge, Massachusetts.

10 Sep 2010

Kennedy Krieger Institute receives grant for Alzheimer's disease research in Down syndrome patients

Early signs of Alzheimer's disease can be difficult to distinguish from the normal aging process in any older adult. For adults with Down syndrome, who are particularly vulnerable to Alzheimer's disease, it is even more so. Because effective intervention needs to begin as early in the disease process as possible, prior to the onset of the irreversible impacts on the brain that are characteristic of this devastating disease, early diagnosis is of critical importance. To address crucial gaps in knowledge about Alzheimer's disease in adults with Down syndrome, the Kennedy Krieger Institute has been awarded an $8.5 million grant from the National Institutes of Health (NIH).

10 Sep 2010

Edimer Pharmaceuticals, CMC Biologics execute manufacturing contract to develop EDI200 recombinant protein

Edimer Pharmaceuticals and CMC Biologics today announce the execution of a manufacturing contract to support the development of EDI200, a clinical-stage recombinant protein for the treatment of X-linked Hypohidrotic Ectodermal Dysplasia (XLHED), a rare genetic disease with orphan designation in the USA and Europe.

10 Sep 2010

Acceleron Pharma and Shire announce joint development of ACE-031 for DMD

Acceleron Pharma, Inc., a biopharmaceutical company developing novel therapeutics that modulate the growth of cells and tissues including muscle, bone, fat, red blood cells and the vasculature, and Shire plc, the global specialty biopharmaceutical company, today announced a joint development and commercialization agreement for ACE-031 and other novel molecules targeting the activin receptor type IIB (ActRIIB) pathway. This pathway plays critical roles in regulating the growth of skeletal muscle.

9 Sep 2010

Researchers find minocycline antibiotics effective for fragile X syndrome

One of the antibiotics most commonly prescribed to treat adolescent acne can increase attention spans and communication and decrease anxiety in patients with fragile X syndrome, the most common inherited cause of mental impairment, according to a new survey study that is the first published on parents' reports of their children's responses to treatment with the medication.

9 Sep 2010

Scientists gather to present research findings at ASHG 2010 Meeting

The world's top scientists and clinicians in the human genetics field will gather in Washington, D.C., to present their latest research findings at the 60th Annual Meeting of the American Society of Human Genetics, from Tuesday, November 2, through Saturday, November 6, 2010, at the Walter E. Washington Convention Center in D.C.

8 Sep 2010

Progerin may contribute to risk of atherosclerosis: Study

Progeria, also known as Hutchinson-Gilford Progeria Syndrome (HGPS), is a rare, fatal genetic disease characterized by an appearance of accelerated aging in children. All children with Progeria die of the same heart disease that affects millions of normal aging adults (atherosclerosis), but instead of occurring at 60 or 70 years of age, these children may suffer heart attacks and strokes even before age 10, and the average age of death is 13 years.

8 Sep 2010

DTC consumers express concern on personal genetic risk test

One half of people using direct to consumer (DTC) personal genetic risk tests express concerns about testing yet more than 80 percent want to know their risk even for non preventable genetic diseases, according to a study in the September Genetics in Medicine, the official peer reviewed journal of The American College of Medical Genetics (ACMG).

8 Sep 2010

Endocrine Society releases new clinical practice guideline on congenital adrenal hyperplasia

Today, The Endocrine Society released a new clinical practice guideline on the diagnosis and treatment of congenital adrenal hyperplasia (CAH). The guideline features a series of evidence-based clinical recommendations developed by an expert task force.

7 Sep 2010