PRESS
Pfizer's Viagra Faces FDA Review for Use in Children With Lung Condition
July 27, 2010
NIH Takes On New Role in Fight Against Rare Diseases
July 24, 2010
NORD Testifies Before Senate HELP Committee
July 21, 2010
A Great Win for Rare Diseases in U.S. Senate Appropriation Bill
July 15, 2010
Regulatory Flexibility
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FDA Database Aims to Spark Orphan-Disease Drug Development
June 18, 2010
EXCLUSIVE: Pfizer plans to move fast on rare disease pacts
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Good news for rare disease?
June 15, 2010
THE CHILDREN'S RARE DISEASE NETWORK LAUNCHES VALUABLE INFORMATIONAL BLOG
June 9, 2010
FDA Grants Orphan Drug Status For Cyclodextrin Compound To Treat Fatal Genetic Cholesterol Disease
May 17, 2010
Genetic Sequencing Kit Catches Rare Mutation for TARP Syndrome
May 15, 2010
Parents of child with rare illness aim to help
April 26, 2010
AltheaDx and The Nicholas Conor Institute for Pediatric Cancer Research Announce Molecular Diagnostics Collaboration to Improve the Diagnosis and Treatment of Childhood Cancer
April 19, 2010
Cooking with the Genzyme Recipe: New Players Funding Rare Disease Drugs in Boston
April 12, 2010
PhRMA Honors Patient Advocates Ron and Raychel Bartek
March 18, 2010
A Legacy For and Beyond Batten Disease
March 16, 2010
Study opens new avenue for developing treatments for genetic muscle-wasting disease
March 15, 2010
Novato's BioMarin finds niche and growing quickly
March 13, 2010
First whole genome sequencing of family of 4 reveals new genetic power
March 10, 2010
Push to Cure Rare Diseases
March 10, 2010
NIH-Funded Research Study
March 8, 2010
250 Million People Worldwide Estimated to Suffer From Rare Disease
March 8, 2010
GENE THERAPY REVERSES EFFECTS OF LETHAL CHILDHOOD MUSCLE DISORDER IN MICE
February 28, 2010
CHI SUPPORTS RESEARCH AND HOPE FOR PATIENTS OF RARE DISEASES
February 25, 2010
RARE DISEASE ADVOCATES UNITE TO TRANSLATE SLOGAN OF GLOBAL GENES PROJECT IN TIME FOR WORLD RARE DISEASE DAY!
February 25, 2010
reco® jeans SUPPORTS CHILDREN WITH RARE DISEASES
February 23, 2010
MILLIONS AROUND WORLD TO OBSERVE RARE DISEASE DAY ON SUNDAY
February 23, 2010
GLOBAL GENES PROJECT TO RAISE AWARENESS FOR MILLIONS OF CHILDREN LIVING WITH RARE DISEASE
February 1, 2010
GALAPAGOS TO FOCUS ON RARE DISEASES IN STRATEGIC SHIFT
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THE PATIENT ASCENDANT
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FUTURE OF NEWBORN SCREENING ENVISIONED: PROCEEDINGS NOW VIEWABLE ONLINE
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DONATE GAMES CHARITY CONNECTS COMMUNITIES WORLDWIDE
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DONATEGAMES TURNS USED VIDEO-GAMES INTO FUNDING FOR MEDICAL RESEARCH TO HELP KIDS
November 25, 2009
CHILDREN'S RARE DISEASE NETWORK RECEIVES LIFE TECHNOLOGIES FOUNDATION GRANT
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BABY Z CURED OR RARE DISEASE IN 3 DAYS
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SOCIAL NETWORKING SAVIORS: TWITTER, FACEBOOK USED IN EFFORT TO HELP SAVE A BABY'S LIFE
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U.S. AND EUROPEAN RARE DISEASE ORGANIZATIONS SIGN STRATEGIC ALLIANCE
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RARE DISEASE CENTER HOSTS SYMPOSIUM ON NEW STRATEGIES
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RARE FIND
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NEW FDA GROUPS FOR RARE, NEGLECTED DISEASES COULD SPEED PATH TO MARKET
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ARNOLD NATIVE TO RUN ACROSS SAHARA DESERT
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DEAL REACHED TO CUT DRUG COSTS
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UNC-DUKE STUDY: IMPAIRED BRAIN PLASTICITY LINKED TO ANGELMAN SYNDROME LEARNING DEFICITS
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MO. VOTES TO ADD 5 DISEASES TO NEWBORN SCREENINGS
May 9, 2009
SIGNATURE GENOMIC LABORATORIES DETECTS CHROMOSOME ABNORMALITIES IN INDIVIDUALS WITH PALLISTER-KILLIAN SYNDROME WITHOUT INVASIVE SKIN BIOPSY
May 7, 2009
MIRACLE FOR MATTHEW
May 5, 2009
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SIGNATURE GENOMIC LABORATORIES DETECTS CHROMOSOME ABNORMALITIES IN INDIVIDUALS WITH PALLISTER-KILLIAN SYNDROME WITHOUT INVASIVE SKIN BIOPSY
May 7, 2009
SPOKANE, Wash., May 07, 2009 (BUSINESS WIRE) -- Geneticists at Signature Genomic Laboratories have demonstrated that microarray-based genetic testing can identify a rare genetic disorder using DNA from blood rather than the more-invasive skin biopsy routinely used for testing.
Pallister-Killian syndrome (PKS) is a rare genetic disorder characterized by mental retardation, seizures, streaks of hypo- or hyperpigmentation and coarse facial features. PKS results from the presence of four, rather than the normal two, copies of the short arm of chromosome 12 in some of the body's cells. The extra fragments of DNA usually cannot be identified in the cultured cells derived from blood used for conventional chromosome analysis, necessitating a painful skin biopsy for diagnosis. In their study, published in the May issue of the American Journal of Medical Genetics, geneticists at Signature reported eight individuals referred for testing for unexplained mental retardation or developmental delay in whom microarray analysis of uncultured DNA from peripheral blood identified a two-copy gain of the short arm of chromosome 12. In all but one individual, traditional cytogenetic analysis using cultured cells could not identify the abnormality, a discrepancy the authors attribute to the inability of abnormal cells to compete with normal cells during the culturing process required for conventional chromosome analysis. The authors suggest that, because it does not require cultured cells for analysis, microarray analysis can better detect chromosome abnormalities that are not present in every cell.
"These results show that microarray analysis can circumvent some of the inherent technical limitations of traditional chromosome analysis in the identification of abnormalities that are not present in every cell," said Dr. Lisa G. Shaffer, Ph.D., President and CEO of Signature and senior author of the study. "Furthermore, although Pallister-Killian syndrome is rare, individuals suspected to have the disorder can be tested using DNA derived from a simple blood draw rather than submit to a painful and invasive skin biopsy."
About Signature Genomic Laboratories, LLC
Signature Genomic Laboratories is the leader in providing microarray-based chromosome analysis. Signature's worldwide client base includes clinical geneticists, neurologists, pediatricians, neonatologists, obstetricians, and the research community. Signature is CAP accredited, CLIA certified, and has clinical licenses from California, New York, Rhode Island and Florida. Additional information about Signature Genomic Laboratories is available at www.signaturegenomics.com.
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