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.

King Pharmaceuticals awards payment to Pain Therapeutics for abuse-resistant medications

Pain Therapeutics, today announced that it had received a $5,000,000 milestone payment from King Pharmaceuticals, its exclusive commercial partner for abuse-resistant prescription pain medications.

29 Jan 2011

Connectome remains dynamic during development, says Scripps Research

Connected highways of nerve cells carry information to and from different areas of the brain and the rest of the nervous system. Scientists are trying to draw a complete atlas of these connections-sometimes referred to as the "connectome"-to gain a better understanding of how the brain functions in health and disease.

28 Jan 2011

Study suggests newborn diagnosis can improve survival in SCID patients

Severe Combined Immunodeficiency occurs in just one out of every 50,000 to 100,000 births in the United States, yet it is the most serious primary immunodeficiency disorder. A study published today in Blood, the Journal of the American Society of Hematology, demonstrates that babies with SCID who are diagnosed at birth and receive a hematopoietic stem cell transplant, which is the transplantation of blood-forming stem cells, have significantly improved survival.

28 Jan 2011

Protein Erk necessary for nerve fibers to be wrapped with myelin

Researchers at the University of North Carolina at Chapel Hill have pinpointed a crucial function for a key player in the development of the nervous system. They found that this player - a protein called Erk - is necessary for nerve fibers to be wrapped with an insulating substance called myelin, which allows messages to be sent from the brain to the peripheral limbs and back again.

28 Jan 2011

CSL Behring receives marketing approval for HAE drug Berinert in Israel

CSL Behring announced today it has been granted national marketing authorization in Israel to market Berinert® for the treatment of acute hereditary angioedema (HAE) attacks in any body location. With this most recent approval, Berinert is now licensed in 30 countries, including Europe, Japan, North America, South America and Australia.

28 Jan 2011

McGill, GSK enter collaborative research agreement on cystic fibrosis

McGill University and GlaxoSmithKline plc have signed a collaboration agreement to develop a potential breakthrough approach to treat cystic fibrosis, a fatal genetic disease. The trans-Atlantic effort between researchers from McGill's Faculty of Medicine and their GSK collaborators in the UK, will focus on developing molecules that could treat the disease by correcting the dysfunction caused by the mutated gene.

28 Jan 2011

FDA accepts Pain Therapeutics NDA resubmission for REMOXY

Pain Therapeutics, Inc. today announced that the U.S. Food and Drug Administration (FDA) has accepted a New Drug Application (NDA) resubmission for REMOXY (controlled-release oxycodone) and has classified it as a Class 2 resubmission.

27 Jan 2011

RRD enters partnership with NIH Therapeutics for Rare and Neglected Diseases program

RRD International, a strategy-driven biotech and pharmaceutical product development company, announced today that it has entered into a partnership with the National Institutes of Health (NIH) Therapeutics for Rare and Neglected Diseases (TRND) program as a regulatory support and development partner.

25 Jan 2011

Human model of rare genetic disease reveals new clues to aging process

Scientists from A*STAR's Institute of Medical Biology (IMB) in Singapore and the University of Hong Kong's Department of Medicine have produced the world's first human cell model of progeria, a disease resulting in severe premature ageing in one in four to eight million children worldwide. This model has allowed them to make new discoveries concerning the mechanism by which progeria works.

25 Jan 2011

Akonni introduces TruTip kit for extraction of human genomic DNA from fresh, frozen whole blood

Akonni Biosystems, a molecular diagnostics company focused on providing rapid and highly scalable solutions for infectious and genetic disease testing, today announced the launch of a TruTip kit for extraction of human genomic DNA from fresh or frozen whole blood.

20 Jan 2011

NMDP selects Velos to supply new Product Fulfillment and CDR System

The National Marrow Donor Program announced today that it has selected Velos, a leading California health care software provider, to supply its new Product Fulfillment and Clinical Data Repository System.

20 Jan 2011

Findings could speed use of RNA nanotechnology for treating disease

Scientists are reporting an advance in overcoming a major barrier to the use of the genetic material RNA in nanotechnology - the field that involves building machines thousands of times smaller than the width of a human hair and now is dominated by its cousin, DNA. Their findings, which could speed the use of RNA nanotechnology for treating disease, appear in the monthly journal ACS Nano.

20 Jan 2011

UNC scientists discover how chaperone enzyme plays a key role in cells' ability to tolerate DNA damage

UNC scientists who study how cells repair damage from environmental factors like sunlight and cigarette smoke have discovered how a "chaperone" enzyme plays a key role in cells' ability to tolerate the DNA damage that leads to cancer and other diseases.

19 Jan 2011

Scientists develop Australia's first pluripotent stem cell lines using skin biopsies for FA disease

Scientists have developed Australia's first adult induced pluripotent stem cell lines using skin biopsies from patients with the rare genetic disease Friedreich Ataxia.

14 Jan 2011

FDA Advisory Committee recommends non-approval of liprotamase for exocrine pancreatic insufficiency

Eli Lilly and Company announced the U.S. Food and Drug Administration (FDA) Gastrointestinal Drugs Advisory Committee voted today to recommend non-approval of liprotamase, a non-porcine pancreatic enzyme replacement therapy (PERT), currently under FDA review for the treatment of exocrine pancreatic insufficiency (EPI).

13 Jan 2011

Scientist develops FMR1 genetic blood test for predicting IVF outcomes

A researcher at Albert Einstein College of Medicine of Yeshiva University has helped to develop the first genetic blood test for predicting the chances that in vitro fertilization will lead to a successful pregnancy.

13 Jan 2011

Neurology professor receives MFRF's 'See the Light' award for Tay-Sachs research

Miguel Sena-Esteves, PhD, associate professor of neurology at the University of Massachusetts Medical School, was presented with the annual "See the Light" award from the Mathew Forbes Romer Foundation in recognition of his work for leading the fight against children's genetic diseases of the brain.

12 Jan 2011

Researchers report gene therapy strategy that improves Beta Thalassemia in mice model

Researchers at Nationwide Children's Hospital report a gene therapy strategy that improves the condition of a mouse model of an inherited blood disorder, Beta Thalassemia.

11 Jan 2011

AMT enters agreement with Consortium for clinical development of novel gene therapy to treat Sanfilippo B

Amsterdam Molecular Therapeutics, a leader in human gene therapy, announced today that it has entered into an agreement with Institut Pasteur, Paris, France, and a group of French research institutes (together the "Consortium") to support clinical development of a novel gene therapy to treat Sanfilippo B.

10 Jan 2011

Cells that give rise to neurons maintain high levels of ROS

For years, the majority of research on reactive oxygen species (ROS) - ions or very small molecules that include free radicals - has focused on how they damage cell structure and their potential link to stroke, cardiovascular disease and other illnesses.

7 Jan 2011

Genetic Disorder News and Research

Further Reading

King Pharmaceuticals awards payment to Pain Therapeutics for abuse-resistant medications

Connectome remains dynamic during development, says Scripps Research

Study suggests newborn diagnosis can improve survival in SCID patients

Protein Erk necessary for nerve fibers to be wrapped with myelin

CSL Behring receives marketing approval for HAE drug Berinert in Israel

McGill, GSK enter collaborative research agreement on cystic fibrosis

FDA accepts Pain Therapeutics NDA resubmission for REMOXY

RRD enters partnership with NIH Therapeutics for Rare and Neglected Diseases program

Human model of rare genetic disease reveals new clues to aging process

Akonni introduces TruTip kit for extraction of human genomic DNA from fresh, frozen whole blood

NMDP selects Velos to supply new Product Fulfillment and CDR System

Findings could speed use of RNA nanotechnology for treating disease

UNC scientists discover how chaperone enzyme plays a key role in cells' ability to tolerate DNA damage

Scientists develop Australia's first pluripotent stem cell lines using skin biopsies for FA disease

FDA Advisory Committee recommends non-approval of liprotamase for exocrine pancreatic insufficiency

Scientist develops FMR1 genetic blood test for predicting IVF outcomes

Neurology professor receives MFRF's 'See the Light' award for Tay-Sachs research

Researchers report gene therapy strategy that improves Beta Thalassemia in mice model

AMT enters agreement with Consortium for clinical development of novel gene therapy to treat Sanfilippo B

Cells that give rise to neurons maintain high levels of ROS

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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