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Firm diagnoses rare genetic disease

2015-August-31       Source: Szdaily.com

The Shenzhen-based organization, BGI, which works with the human genome, diagnosed a 7-month-old child with Costello syndrome Thursday and will publish the genetic data to help experts find other children with the disease.

The Shenzhen-based organization, BGI, which works with the human genome, diagnosed a 7-month-old child with Costello syndrome Thursday and will publish the genetic data to help experts find other children with the disease.

Costello syndrome is an extremely rare genetic disorder that causes slow physical development in children, along with distinct facial features and a predisposition to certain cancers.

The infant, known as Longlong, was diagnosed with Costello syndrome seven months after his birth this year. Longlong’s body weight has not increased since birth, remaining around 3.6 kilograms.

Longlong’s father, surnamed Min, said that the baby can eat and sleep normally. Longlong also reacts to his environment, but his low body weight remains the same and his family is extremely worried.

BGI got in contact with Longlong’s family after learning about the case from a local newspaper report. BGI collected blood samples from the baby as well as his parents Aug. 6 and conducted genetic testing.

Min said Longlong is being taken care of well and can make some simple sounds. He said the family will never give up on the infant.

Longlong is being treated at the University of Hong Kong-Shenzhen Hospital with his parents accompanying him.

“The doctors told us to prepare money for the treatment, so now the only thing we can do is to sustain Longlong’s life at the hospital and try to find other hospitals that can cure the disease,” said Min.

There is currently no cure for the disease and its rarity means that very few medicines are available to treat it.

Another child suffering from strange symptoms is also waiting for test results from BGI to detect what disease the child has. The child, known as Linlin, has been living on a ventilator in an intensive care unit since birth.

Doctors on the Chinese mainland and in Hong Kong have not been able to diagnose the child.

The parents, both graduates from Tsinghua University, had to turn to the Tsinghua alumni association for help. With the association’s help, Linlin’s case was passed to many genetic research organizations including BGI on Aug. 23.

Researchers from BGI analyzed Linlin’s disease and suggested they test the whole family to determine what disease the child may be suffering from. The researchers took blood samples from the family Aug. 25 and used the same method in Longlong’s case to test the genes.

BGI decided to publish Linlin’s genetic data online to make it available to experts around the world. BGI has also created an online forum for experts from Tsinghua University, Fudan University, Baylor College of Medicine, University of Southern California and Boston Children’s Hospital to discuss genetic diseases.

Editor: Steven

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