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.

Sequenom signs national agreement to provide MaterniT21 PLUS LDT

Sequenom, Inc., a life sciences company providing innovative testing and genetic analysis solutions, announced today its wholly owned subsidiary, Sequenom Laboratories, has signed a national agreement with a leading health insurance company covering 13 million people throughout the United States, to provide the MaterniT21™ PLUS laboratory-developed test (LDT).

9 Jun 2014

Regeneration of a chronically diseased liver may be possible, say Harvard researchers

Harvard Stem Cell Institute scientists at Boston Children's Hospital have new evidence in mice that it may be possible to repair a chronically diseased liver by forcing mature liver cells to revert back to a stem cell-like state.

6 Jun 2014

Brain circuit problem may contribute to auditory hallucinations of schizophrenia

St. Jude Children's Research Hospital scientists have identified problems in a connection between brain structures that may predispose individuals to hearing the "voices" that are a common symptom of schizophrenia. The work appears in the June 6 issue of the journal Science.

6 Jun 2014

Geoff Keller Group of MHAUS hosts fundraising event to promote MH awareness

The Geoffrey Keller Memorial Open Water Swim held in honor of the late son of Curt and Kathy Keller to raise funds to research better ways of managing Malignant Hyperthermia during surgery, to improve methods of detecting MH, and for MH awareness.

5 Jun 2014

Storing dantrolene can save 33 lives per year, say MH experts

MH experts say Storing dantrolene would save 33 lives per year at an incremental cost effectiveness ratio of nearly $200,000 (in 2010 dollars) per life saved, indicating that storing dantrolene at ambulatory surgical centers is very cost effective say, Malignant Hyperthermia Experts: Taiwo Aderibigbe, BS; Barbara H. Lang, BS; Henry Rosenberg, MD; Guohua Li, MD, PhD, Columbia University, New York who authored the article "Cost-Effectiveness Analysis of Stocking Dantrolene in Ambulatory Surgery Centers" that was recently published in the latest official journal of the American Society of Anesthesiologists, Anesthesiology.

5 Jun 2014

Study suggests new targets for treating rare genetic disorder and cancer

The combined action of two enzymes, Srs2 and Exo1, prevents and repairs common genetic mutations in growing yeast cells, according to a new study led by scientists at NYU Langone Medical Center.

2 Jun 2014

New software tool helps identify genetic mutations linked to increased risk for cancer

Researchers at The University of Texas MD Anderson Cancer Center and other institutions have applied a newly developed software tool to identify genetic mutations that contribute to a person's increased risk for developing common, complex diseases, such as cancer.

31 May 2014

Immucor's PreciseType HEA test receives FDA approval to predict blood compatibility

Immucor, Inc., a global leader in transfusion and transplantation diagnostics, announced that the U.S. Food and Drug Administration has granted approval for the company's PreciseType HEA test.

23 May 2014

Eisai launches new class of epilepsy treatment Fycompa in France

Fycompa (perampanel), the first in an entirely new class of treatment for partial onset seizures (the most common form of epilepsy), has today received reimbursement approval from the Comité Economique des Produits de Santé.

22 May 2014

Isis Pharmaceuticals starts Phase 1 clinical study of ISIS-PKKRx to treat patients with HAE

Isis Pharmaceuticals, Inc. (NASDAQ: ISIS) announced today that it initiated a Phase 1 clinical study of ISIS-PKKRx. ISIS-PKKRx is an antisense drug in development to treat patients with hereditary angioedemia (HAE).

21 May 2014

DNA-directed RNA interference and hepatitis C: an interview with Carl Stubbings, Chief Business Officer, Benitec Biopharma

RNA interference (RNAi) is a naturally occurring process, which cells can use to silence, or ‘turn off’ unwanted genes.

From Quest Diagnostics 19 May 2014

New dual-pronged approach for treating Niemann-Pick type C disease

By studying nerve and liver cells grown from patient-derived induced pluripotent stem cells (iPSCs), Whitehead Institute researchers have identified a potential dual-pronged approach to treating Niemann-Pick type C (NPC) disease, a rare but devastating genetic disorder.

16 May 2014

OxThera granted new patents for treatment of hyperoxaluria

OxThera AB announced today that it has been granted two new US patents and one new Australian patent during the last year.

15 May 2014

Abeona Therapeutics obtains FDA Orphan Drug Designations for Sanfilippo Syndrome therapies

Abeona Therapeutics, a start-up company created around intellectual property licensed from Nationwide Children's Hospital to develop treatments for Sanfilippo Syndrome Types A and B, has been granted Orphan Drug Designations for its lead investigational therapies by the U.S. Food and Drug Administration Office of Orphan Products Development.

12 May 2014

New approach to detect chromosomal abnormalities without harm to mother or fetus

Chromosomal abnormalities that result in birth defects and genetic disorders like Down syndrome remain a significant health burden in the United States and throughout the world, with some current prenatal screening procedures invasive and a potential risk to mother and unborn child.

7 May 2014

New molecular "clamps" offer powerful new tool for identifying individuals with increased risk of cancer

An international research team has built molecular "clamps" out of DNA that offer a powerful new tool for identifying individuals with an increased risk of cancer.

7 May 2014

FDA approves Alexion’s Soliris drug for treatment of atypical hemolytic uremic syndrome

Alexion Pharmaceuticals, Inc. today announced that the U.S. Food and Drug Administration (FDA) has approved the Company's supplemental Biologics License Application (sBLA) providing regular approval for Soliris® (eculizumab) for the treatment of adult and pediatric patients with atypical hemolytic uremic syndrome (aHUS) to inhibit complement-mediated thrombotic microangiopathy (TMA).

6 May 2014

Genetic Disorder News and Research

Further Reading

Sequenom signs national agreement to provide MaterniT21 PLUS LDT

Regeneration of a chronically diseased liver may be possible, say Harvard researchers

Brain circuit problem may contribute to auditory hallucinations of schizophrenia

Geoff Keller Group of MHAUS hosts fundraising event to promote MH awareness

Storing dantrolene can save 33 lives per year, say MH experts

Study suggests new targets for treating rare genetic disorder and cancer

New software tool helps identify genetic mutations linked to increased risk for cancer

Immucor's PreciseType HEA test receives FDA approval to predict blood compatibility

Eisai launches new class of epilepsy treatment Fycompa in France

Isis Pharmaceuticals starts Phase 1 clinical study of ISIS-PKKRx to treat patients with HAE

DNA-directed RNA interference and hepatitis C: an interview with Carl Stubbings, Chief Business Officer, Benitec Biopharma

New dual-pronged approach for treating Niemann-Pick type C disease

OxThera granted new patents for treatment of hyperoxaluria

Abeona Therapeutics obtains FDA Orphan Drug Designations for Sanfilippo Syndrome therapies

New approach to detect chromosomal abnormalities without harm to mother or fetus

New molecular "clamps" offer powerful new tool for identifying individuals with increased risk of cancer

FDA approves Alexion’s Soliris drug for treatment of atypical hemolytic uremic syndrome

Novogen partners with Genea Biocells to accelerate testing for neurodegenerative diseases

DNA 'sat nav' allows direct access to homes of ancestors alive 1,000 years ago

Isis Pharmaceuticals reports final data from ISIS-APOCIIIRx Phase 2 study in patients with FCS

Genetics & Genomics - Second Edition eBook

Bringing real-time analytics to downstream bioprocess monitoring

Designing fluidic architecture for scalable diagnostic platforms

Evaluating new approaches for rare disease genomics

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