Gene therapy partially restores vision in rare blindness disorder

BY IAM SAMPLE
THE GUARDIAN

Two men with progressive blindness have regained some of their vision after taking part in the first clinical trial of a gene therapy for the condition. The men were among six patients to have experimental treatment for a rare, inherited, disorder called choroideremia, which steadily destroys eyesight and leaves people blind in middle age. After therapy to correct a faulty gene, the men could read two to four more lines on an optician’s sight chart, a dramatic improvement that has held since the doctors treated them. One man was treated more than two years ago. The other four patients, who had less advanced disease and good eyesight before the trial, had better night vision after the therapy. Continue Reading →

Britain gives scientist go-ahead to genetically modify human embryos

BY KATE KELLAND
REUTERS

Scientists in Britain have been give the go-ahead to edit the genes of human embryos for research purposes, using a technique that some say could eventually be used to create “designer babies”. Less than a year after Chinese scientists caused an international furor by saying they had genetically modified human embryos, Kathy Niakan, a stem cell scientist from London’s Francis Crick Institute, was granted a license to carry out similar experiments. “The Human Fertilisation and Embryology Authority (HFEA) has approved a research application from the Francis Crick Institute to use new ‘gene editing’ techniques on human embryos,” Niakan’s lab said on Monday. It said the work carried out “will be for research purposes and will look at the first seven days of a fertilized egg’s development, from a single cell to around 250 cells”. The scientists will not be allowed to develop the modified embryos for clinical purposes or implant them into any women. Continue Reading →

Tracking down the ancestry of First Lady Michelle Obama

BY RACHEL SWARNS
ANCESTRY.CA

First Lady Michelle Obama always suspected that she had white ancestors. But she had no idea who they were. With DNA testing and research, I was able to solve that mystery and finally identify the white forbears who had remained hidden in her family tree for more than a century.

All across the country, growing numbers of people are turning to DNA testing as a tool to help unlock the secrets of their roots, using companies such as ancestry.com, among others. When I started researching my new book, “American Tapestry: The Story of the Black, White and Multiracial Ancestors of Michelle Obama,’’ I pored over historical documents that I found in local archives, courthouses and libraries as well as records that I found online on ancestry.com and other state and local databases. But I knew that DNA testing would be the only way to unearth the truth.

I suspected that Mrs. Obama’s white ancestors belonged to the white Shields family that had owned her great-great-great grandmother, Melvinia Shields. So I persuaded several descendants of the black and white Shields to do DNA testing.

The results showed that the two families were related. The DNA testing indicated that Melvinia’s owner’s son was the likely father of Melvinia’s biracial child, Dolphus Shields. (Dolphus Shields is the first lady’s great-great grandfather.)

But last month, members of both sides of the family – black and white — put aside the pain of the past. They got together for the very first time in Rex, Georgia at a ceremony to commemorate Melvinia’s life. They swapped family stories, posed for photographs, exchanged phone numbers and had a meal together.

It was something to see.

David Applin, who is Melvinia’s great-grandson, said the reunion was “wonderful.” And Jarrod Shields, who is the great-great-great grandson of Melvinia’s owner, described it as a day “my family will never forget.” Continue Reading →

Your Genome Belongs To You

BY SHARON TERRY AND ROBERT COOK-DEEGAN
HEALTH AFFAIRS

Just four years ago, only two people in the world had their genome sequenced:  James D. Watson (co-discoverer of the structure of DNA) and J. Craig Venter (former President of the firm that mounted a private-sector rival to the Human Genome Project).  There are now many thousands of such people.  At genome meetings, scientists are talking about millions of fully sequenced genomes in coming years.  And after that…? It cost roughly a billion dollars to generate the first reference human genome in 2003; last year a company would charge $10,000 for this service.  This year it costs a few thousand dollars. And in a few years we should be able to get our genomes sequenced for a few hundred dollars. At some point, our genomic information will get cheap enough for most of us to take the plunge and “get our genomes done.”  It may be curiosity, or concern about disease risk, or interest in ancestry and biological relationships in the context of social relationships. This seems big and incipient. Continue Reading →

Like air and water, DNA should not be patentable

BY ANDRÉ PICARD
THE GLOBE AND MAIL

‘Gene patents no longer need to stand in the way of diagnosing life-threatening disease.”
That’s how Alex Munter, president and chief executive officer of the Children’s Hospital of Eastern Ontario, summed up the impact of an out-of-court settlement in the lawsuit CHEO launched against Transgenomic Inc. in 2014. Transgenomic, a biotechnology company based in Omaha, Neb., owns five gene patents related to the potentially deadly heart condition Long QT syndrome. What that meant, practically, was that if CHEO (or any other hospital) wanted to test patients for Long QT, they had to send the blood sample to Transgenomic and pay $4,800 – even though the hospital had the ability to do the same tests for about $1,500. Further, if a genetic defect that points to Long QT was discovered incidentally – for example, when the lab did a panel on larger parts of the genome – that information could not be communicated to the patient, again because of the patent. Dubious patents were preventing the timely diagnosis and treatment of sick children and “we found that morally reprehensible,” said Gail Graham, CHEO’s chief of genetics. Continue Reading →