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Help Children With Rare Diseases Get the New Medicines They Need

July 5, 2011

RemedyMD and the Children’s Rare Disease Network Announce Plan to Give Away Free Rare Disease Research Registry Valued up to $50,000 via Contest

February 25, 2011

7,000 Bracelets for Hope™ Campaign Raises Awareness For Over 7000 Rare Diseases

February 08, 2011

Global Genes Project Announces "Wear That You Care!™" Denim Awareness Camaign for Rare Disease Day 2011

January 26, 2011

Thumbelina Kids: Tiny as Dolls, They Strive to Fit In

January 18, 2011

2010 ROCK STARS OF SCIENCE!" DR. EMIL KAKKIS HONORED AS A 2010 ROCK STAR OF SCIENCE

November 17, 2010

7,000 Bracelets For Hope™ - A Rare Disease Awareness Campaign

November 1, 2010

Global Genes Quarterly Conference Call Overview

October 28, 2010

Seeking A Cure For Jonah

October 19, 2010

The Global Genes Project Charity Benefit and Fashion Week Kick Off!

September 7, 2010

Advocates to bring rare disease philanthropy under one umbrella

August 9, 2010

Big pharma moves from 'blockbusters' to 'niche busters'

August 9, 2010

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

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July 15, 2010

Regulatory Flexibility

July 02, 2010

Children's Rare Disease Network Partners With Medpedia.com To Create Rarespace

June 29, 2010

FDA Database Aims to Spark Orphan-Disease Drug Development

June 18, 2010

EXCLUSIVE: Pfizer plans to move fast on rare disease pacts

June 17, 2010

Good news for rare disease?

June 15, 2010

THE CHILDREN'S RARE DISEASE NETWORK LAUNCHES VALUABLE INFORMATIONAL BLOG

June 9, 2010

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May 17, 2010

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May 15, 2010

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April 26, 2010

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April 19, 2010

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April 12, 2010

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March 18, 2010

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March 16, 2010

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March 10, 2010

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March 10, 2010

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March 8, 2010

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February 28, 2010

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February 25, 2010

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February 25, 2010

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February 23, 2010

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February 1, 2010

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January 26, 2010

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January 18, 2010

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December 21, 2009

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November 25, 2009

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October 27, 2009

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October 12, 2009

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May 5, 2009

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May 4, 2009

MO. VOTES TO ADD 5 DISEASES TO NEWBORN SCREENINGS

May 9, 2009

JEFFERSON CITY, Mo. (AP) - Missouri is poised to become one of the few states that test infants for certain kinds of rare and often fatal genetic disorders.

Missouri newborns already are screened for 67 diseases, and legislation sent to Gov. Jay Nixon would add five lysosomal storage diseases to the list by July 2012.

The bill is named for Brady Cunningham, a southeast Missouri boy who died last month from Krabbe disease, which is one of the additional disorders that would be tested. Brady was born April 16, 2008, and the only initial sign of problems was a tremor in his arms.

If Krabbe disease is diagnosed quickly, certain treatments can improve chances of a normal life. But it took months before Brady was properly diagnosed, and before his death he suffered crying, unexplained tremors and such intense pain that he developed "six-pack" abdominal muscles from straining.

Jessy and Dustin Cunningham brought Brady to the Capitol from their Campbell home before his death to urge lawmakers to approve the bill.

They said Friday that they believed their appearance helped the legislation pass.

"God has answered our prayers. We know this is what Brady wanted," Jessy Cunningham said.

Dustin Cunningham said the weeks since Brady's death have been difficult but that the family believes the baby and his illness can help other families so their children are screened as newborns.

Hearing that the bill passed, he said: "It's a little bit of lightness in the dark." he said.

The state Department of Health and Senior Services reported in an analysis of the expected costs of the additional testing that about 80,000 babies are born in Missouri annually. The department estimated the screening would diagnose eight to 10 infants per year with one of the five diseases added to the list.

Hospitals take blood samples from newborns and pay $50 per sample to the state health to check for dozens of diseases such as cystic fibrosis, sickle cell and maple syrup urine disease - a metabolic disorder that can be fatal or cause mental retardation and physical disabilities.

Missouri lawmakers voted to add to the newborn screening list: Krabbe, Pompe, Gaucher, Niemann-Pick and Fabry, which are among the roughly 50 lysosomal storage diseases. The state health department also could increase the infant testing fee and eventually begin testing for additional lysosomal diseases.

According to the Texas-based National Newborn Screening and Genetics Resource Center, the only state now screening for a lysosomal disorder is New York, which checks for Krabbe. The disorder was highlighted there because the son of former Buffalo Bills quarterback Jim Kelly died after being diagnosed with the disease.

Illinois is to begin testing newborns next year for the same five lysosomal disorders.

Lysosomal diseases occur when the part of cells responsible for turning waste into useful materials cannot function properly. Cells use special proteins called enzymes to process waste materials, and the disorders arise when there isn't enough of the enzyme.

Cate Walsh Vockley, coordinator of education, referral and advocacy for the National Niemann-Pick Foundation, said the advocacy group has sought to have Niemann-Pick disease included on a federal list for newborn screenings. She said one hangup has been insufficient data, and that state lysosomal disorder screenings would help.

The Advisory Committee on Heritable Disorders in Newborns and Children within the U.S. Department of Health and Human Services was created in 2003 to advise on universal screening policies and standards.

Vockley said lysosomal disorders are rare and the expanded testing likely won't diagnose many cases. But she said finding new cases sooner helps the families and with treatment options.

"The families go through such a long diagnostic odyssey that occasionally they have a second affected child before they realize the first child has" the disease too, she said.

Associated Press writer Betsy Taylor in St. Louis contributed to this report.

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