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.

Researchers underscore role of jumping genes in maintaining genetic diversity

Using high-throughput sequencing to map the locations of a common type of jumping gene within a person's entire genome, researchers at the University of Pennsylvania School of Medicine found extensive variation in these locations among the individuals they studied, further underscoring the role of these errant genes in maintaining genetic diversity.

4 Jun 2010

Researchers identify gene responsible for Meckel-Gruber and Joubert syndromes

An international group of researchers has identified the genetic cause of an inherited condition that causes severe foetal abnormalities.

31 May 2010

RNAi therapy shuts down gene critical to RSV, prevents virus replication

John DeVincenzo, MD, professor and researcher in the Departments of Pediatrics and Molecular Sciences at the University of Tennessee Health Science Center (UTHSC), has proven for the first time that a totally new concept in drug design can be used to treat human disease. Dr. DeVincenzo, who also serves as a children's infectious diseases specialist at Le Bonheur Children's Hospital, conducted his study at the Children's Foundation Research Center, a UT Health Science Center partner located at Le Bonheur.

29 May 2010

Researchers discover method to select sperm with highest DNA integrity

Researchers at Yale School of Medicine have discovered a method to select sperm with the highest DNA integrity in a bid to improve male fertility. The method is comparable to that of the egg's natural selection abilities, according to the study published in the June/July issue of the Journal of Andrology.

29 May 2010

CSL Behring granted authorization to market Berinert for HAE in Italy and Luxembourg

CSL Behring announced today it has been granted national marketing authorization in Italy and Luxembourg to market Berinert® for the treatment of acute hereditary angioedema (HAE) attacks in any body location. This latest authorization brings the number of countries to 28 (in Europe, Asia, North America, South America and Australia) in which Berinert is now licensed.

28 May 2010

UCI scientists create eight-layer, early-stage retina from human embryonic stem cells

UC Irvine scientists have created an eight-layer, early-stage retina from human embryonic stem cells, the first three-dimensional tissue structure to be made from stem cells.

27 May 2010

Highlights from June 2010 issue of American Journal of Pathology

Dr. Kanneboyina Nagaraju and colleagues at the Children's National Medical Center, Washington, DC demonstrate that affected muscle may directly contribute to inflammation in muscular dystrophy. Their report can be found in the June 2010 issue of The American Journal of Pathology.

26 May 2010

SCID added to the core panel of 29 genetic disorders

On May 21, 2010, Kathleen Sebelius, Secretary of Health and Human Services announced the addition of Severe Combined Immunodeficiency -- commonly known as bubble boy disease -- to the core panel of 29 genetic disorders -- as part of her recommendation to adopt the national Recommended Uniform Screening Panel.

26 May 2010

Lumizyme receives FDA approval for patients with late-onset Pompe disease

The U.S. Food and Drug Administration approved Lumizyme (alglucosidase alfa) for patients ages 8 years and older with late-onset (non-infantile) Pompe disease, a rare genetic disorder.

26 May 2010

Genzyme signs consent decree of permanent injunction, agrees to disgorgement

Genzyme Corp. has signed a consent decree agreeing to correct manufacturing quality violations at its Allston, Mass., manufacturing facility and will turn over to the federal government $175 million in unlawful profits from the sale of products that were made at the plant, the U.S. Food and Drug Administration announced today.

25 May 2010

Researchers use zebrafish as model to analyze function of every known mutation in BBS

A research team led by scientists from the Duke University Medical Center has developed a way to simultaneously look at the effects of 125 mutations occurring on 14 different genes. They used zebrafish as a model to analyze the function of every known mutation in an inherited syndrome called BBS, Bardet-Biedl Syndrome.

25 May 2010

Lawmakers probe consumer genetic testing kits

After Pathway Genomics proposed selling genetics tests directly to consumers without Food and Drug Administration approval and "despite concerns" about accuracy, lawmakers have launched an investigation and requested information about the products according to letters sent to three firms by a House panel, The Washington Post reports.

20 May 2010

NIH Director to brief U.S. Senate on ways to leverage investments in medical research

National Institutes of Health (NIH) Director Francis S. Collins, M.D., Ph.D., will lead a briefing on Capitol Hill Thursday, May 20, to discuss how funding for medical research at the NIH can be used more quickly to create new therapies for patients and save lives.

20 May 2010

Boston University biomedical engineers develop new nanopore method for DNA sequencing

Sequencing DNA could get a lot faster and cheaper - and thus closer to routine use in clinical diagnostics - thanks to a new method developed by a research team based at Boston University. The team has demonstrated the first use of solid state nanopores - tiny holes in silicon chips that detect DNA molecules as they pass through the pore - to read the identity of the four nucleotides that encode each DNA molecule.

20 May 2010

Final data from Open-Label studies of Cinryze in patients with HAE now available

ViroPharma Incorporated today announced the availability of final data from Open-Label studies of Cinryze (C1 Esterase Inhibitor [Human]) in preventing and treating attacks of hereditary angioedema on the U.S. National Institutes of Health's online clinical trial registry, www.clinicaltrials.gov.

18 May 2010

Research sheds light on early embryogenesis, genetic disease

Chromosome 22q11 deletion syndrome (also known as DiGeorge syndrome) is the most common human chromosome deletion syndrome, having an estimated incidence of at least one in 4,000 live births.

15 May 2010

International study to test effectiveness of celecoxib in preventing growth of precancerous polyps

Rush University Medical Center is testing whether celecoxib, known by its brand name Celebrex, can help prevent the growth of precancerous polyps that form in the colon, rectum and small intestine of children with an inheritable genetic disease called familial adenomatous polyposis.

14 May 2010

27-year-old sickle cell disease patient undergoes multiple joint replacement surgery

Fortis Hospitals Mulund, Mumbai, performed a multiple joint replacement surgery on a 27 year old young Nigerian patient. Rebacca underwent a hip and a shoulder replacement surgery by Dr. Sachin Bhonsle, Consultant Orthopedic Surgeon, after years of suffering in pain and immobility.

13 May 2010

Research sheds light on prenatal heart formation, chromosome 22q.11 deletion syndrome

Researchers studying the common genetic disorder chromosome 22q.11 deletion syndrome have identified key proteins that act together to regulate early embryonic development. One protein is essential to life; in animal studies, embryos without the protein do not survive past the first few days of gestation.

13 May 2010

Mutations in STRAD-alpha gene can cause PMSE syndrome in Amish children: Penn researchers

So often the rare informs the common. Penn researchers investigating a regulatory protein involved in a rare genetic disease have shown that it may be related to epileptic and autistic symptoms in other more common neurological disorders.

12 May 2010

Genetic Disorder News and Research

Further Reading

Researchers underscore role of jumping genes in maintaining genetic diversity

Researchers identify gene responsible for Meckel-Gruber and Joubert syndromes

RNAi therapy shuts down gene critical to RSV, prevents virus replication

Researchers discover method to select sperm with highest DNA integrity

CSL Behring granted authorization to market Berinert for HAE in Italy and Luxembourg

UCI scientists create eight-layer, early-stage retina from human embryonic stem cells

Highlights from June 2010 issue of American Journal of Pathology

SCID added to the core panel of 29 genetic disorders

Lumizyme receives FDA approval for patients with late-onset Pompe disease

Genzyme signs consent decree of permanent injunction, agrees to disgorgement

Researchers use zebrafish as model to analyze function of every known mutation in BBS

Lawmakers probe consumer genetic testing kits

NIH Director to brief U.S. Senate on ways to leverage investments in medical research

Boston University biomedical engineers develop new nanopore method for DNA sequencing

Final data from Open-Label studies of Cinryze in patients with HAE now available

Research sheds light on early embryogenesis, genetic disease

International study to test effectiveness of celecoxib in preventing growth of precancerous polyps

27-year-old sickle cell disease patient undergoes multiple joint replacement surgery

Research sheds light on prenatal heart formation, chromosome 22q.11 deletion syndrome

Mutations in STRAD-alpha gene can cause PMSE syndrome in Amish children: Penn researchers

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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