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.

Women & Infants creates fully integrated center for high-risk pregnancy

Every pregnancy deserves special treatment. But when a woman with a normal pregnancy has a complication or a woman with a medical issue becomes pregnant, she needs highly specialized care.

26 Jul 2011

First high-resolution genetic maps for African American populations

UCLA life scientists and colleagues have produced one of the first high-resolution genetic maps for African American populations. A genetic map reveals the precise locations across the genome where DNA from a person's father and mother have been stitched together through a biological process called "recombination." This process results in new genetic combinations that are then passed on to the person's children.

25 Jul 2011

Researchers develop mouse model of rare human birth defect

A team of researchers from the University of Utah and Brigham Young University has developed a mouse model of focal dermal hypoplasia, a rare human birth defect that causes serious skin abnormalities and other medical problems. This animal model not only provides insight into studying the cause of focal dermal hypoplasia (FDH), but also offers a novel way to study a signaling pathway that is crucial for embryonic development.

21 Jul 2011

Research: Substance P appears to trigger formation of extraskeletal bone

For hundreds of thousands of people, injuring a muscle through an accident like falling off a bike or having surgery can result in a strange and serious complication. Their muscles start growing bones.

21 Jul 2011

Altogen Labs introduces pyrosequencing services for hospitals, research institutions

Altogen Labs, a biology contract research organization and provider of pre-clinical research services, announced its launch of a pyrosequencing service today.

20 Jul 2011

Newborn study suggests that increase in congenital hypothyroidism is entirely artifactual

A new study that was prompted by recent reports of an increase in cases of congenital hypothyroidism in the United States, and aimed at assessing the incidence of this condition among Quebec newborns, suggests that the increase is entirely artifactual.

19 Jul 2011

Scientists use two methods to manipulate disease-causing mutations in stem cells

Using two distinct methods, Whitehead Institute researchers have successfully and consistently manipulated targeted genes in both human embryonic stem (ES) cells and induced pluripotent stem (iPS) cells.

16 Jul 2011

IBM, Coriell partner to explore personalized medicine

IBM today announced that Coriell Institute for Medical Research, the largest biobank of living human cells, is using IBM technology to advance its research of human genetic disease and to more efficiently maintain its massive collection of biological resources.

15 Jul 2011

UIC to begin STX209 clinical trial for treatment of autism spectrum disorders

An experimental drug to treat social withdrawal in children and young adults with autism is being studied in a clinical trial at the University of Illinois at Chicago's Institute for Juvenile Research.

13 Jul 2011

genOway acquires worldwide exclusive license for RMCE technology from bluebird bio for genetically modified rodents

genOway and bluebird bio report today genOway acquisition of an exclusive worldwide license for the RMCE technology (developed at the Massachusetts Institute of Technology) in the field of genetically modified rodents.

12 Jul 2011

Researchers discover how genetic mutations cause rare human diseases

Researchers at the University of California, San Francisco and in Michigan, North Carolina and Spain have discovered how genetic mutations cause a number of rare human diseases, which include Meckel syndrome, Joubert syndrome and several other disorders.

11 Jul 2011

Novartis Afinitor Phase III trial on tuberous sclerosis meets primary endpoint

Novartis Pharmaceuticals Corporation announced today Phase III trial results that showed more than one-third of patients taking Afinitor tablets experienced a 50% or greater reduction in the size of their subependymal giant cell astrocytomas, non-cancerous brain tumors associated with tuberous sclerosis complex.

8 Jul 2011

Lotus Tissue Repair to develop DEB protein replacement therapy with $26 million Series A financing

Lotus Tissue Repair, Inc. today announced the closing of a $26 million Series A financing led by Third Rock Ventures. Proceeds of the financing will be used to advance the company's proprietary recombinant collagen type VII (rC7) technology as the first and only protein replacement therapy in development for the treatment of dystrophic epidermolysis bullosa (DEB), an orphan disease that causes devastating skin blisters, morbidity and early mortality.

30 Jun 2011

Diagnostic delay in women with tuberous sclerosis complex increases mortality risk

Women with tuberous sclerosis complex (TSC) are often misdiagnosed because the condition, commonly recognized in early childhood when it presents with seizures, manifests differently later in life, typically with renal angiomyolipomas - a benign tumor of the kidney - and pulmonary lymphangioleiomyomatosis (LAM) - a rare lung disease that affects almost exclusively women.

30 Jun 2011

Glybera gene therapy reduces pancreatitis risk in Lipoprotein Lipase Deficiency patients

Amsterdam Molecular Therapeutics, a leader in the field of human gene therapy, today released data showing that its gene therapy Glybera® (alipogene tiparvovec) significantly reduces the risk of pancreatitis in patients with Lipoprotein Lipase Deficiency (LPLD). Pancreatitis, or inflammation of the pancreas, is a major clinical symptom of LPLD.

29 Jun 2011

Kindstar, Mayo Clinic enter multiyear agreement to offer specialized laboratory support

Mayo Clinic today announced that it has entered into a multiyear agreement with Wuhan Kindstar Globalgene Technology, Inc. (Kindstar) to provide specialized laboratory support based on provision of knowledge from Mayo Clinic's Department of Laboratory Medicine and Pathology and its reference laboratory, Mayo Medical Laboratories.

28 Jun 2011

Mayo Clinic signs agreement with Kindstar

Mayo Clinic today announced that it has entered into a multiyear agreement with Wuhan Kindstar Globalgene Technology, Inc. (Kindstar) to provide specialized laboratory support based on provision of knowledge from Mayo Clinic’s Department of Laboratory Medicine and Pathology and its reference laboratory, Mayo Medical Laboratories.

27 Jun 2011

New guide indicates when and how genetic testing is useful for inherited cardiac conditions

While genetic inheritance is known to play a role in the multifactorial development of most diseases of the heart, there are also a number of clearly diagnosed cardiac conditions which owe their development to quite specific genetic abnormalities. When these genetic disorders affect the integrity of the heart's muscle they are known as a "cardiomyopathy"; when the disorder affects the heart's "excitability", it is known as a "channelopathy".

27 Jun 2011

In vivo genome editing restores hemostasis in mouse model of blood clotting disorder

Using an innovative gene therapy technique called genome editing that hones in on the precise location of mutated DNA, scientists have treated the blood clotting disorder hemophilia in mice.

27 Jun 2011

Scientists uncover new therapeutic target for Huntington's disease

UT Southwestern Medical Center researchers have identified compounds that appear to inhibit a signaling pathway in Huntington's disease, a finding that may eventually lead to a potential drug therapy to help slow the progression of degenerative nerve disorders.

24 Jun 2011

Genetic Disorder News and Research

Further Reading

Women & Infants creates fully integrated center for high-risk pregnancy

First high-resolution genetic maps for African American populations

Researchers develop mouse model of rare human birth defect

Research: Substance P appears to trigger formation of extraskeletal bone

Altogen Labs introduces pyrosequencing services for hospitals, research institutions

Newborn study suggests that increase in congenital hypothyroidism is entirely artifactual

Scientists use two methods to manipulate disease-causing mutations in stem cells

IBM, Coriell partner to explore personalized medicine

UIC to begin STX209 clinical trial for treatment of autism spectrum disorders

genOway acquires worldwide exclusive license for RMCE technology from bluebird bio for genetically modified rodents

Researchers discover how genetic mutations cause rare human diseases

Novartis Afinitor Phase III trial on tuberous sclerosis meets primary endpoint

Lotus Tissue Repair to develop DEB protein replacement therapy with $26 million Series A financing

Diagnostic delay in women with tuberous sclerosis complex increases mortality risk

Glybera gene therapy reduces pancreatitis risk in Lipoprotein Lipase Deficiency patients

Kindstar, Mayo Clinic enter multiyear agreement to offer specialized laboratory support

Mayo Clinic signs agreement with Kindstar

New guide indicates when and how genetic testing is useful for inherited cardiac conditions

In vivo genome editing restores hemostasis in mouse model of blood clotting disorder

Scientists uncover new therapeutic target for Huntington's disease

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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