Hugh Rienhoff prepared his daughters DNA for sequencing at home using second-hand equipment. LEAH FASTEN Hugh Rienhoff says that his nine-year-old daughter, Bea, is a fire cracker, a tomboy and a very sassy, impudent girl. But in a forthcoming research paper, he uses rather different terms, describing her hypertelorism (wide spacing between the eyes) and bifid uvula (a cleft in the tissue that hangs from the back of the palate). Both are probably features of a genetic syndrome that Rienhoff has obsessed over since soon after Beas birth in 2003. Unable to put on much muscle mass, Bea wears braces on her skinny legs to steady her on her curled feet. She is otherwise healthy, but Rienhoff has long worried that his daughters condition might come with serious heart problems. Rienhoff, a biotech entrepreneur in San Carlos, California, who had trained as a clinical geneticist in the 1980s, went from doctor to doctor looking for a diagnosis. He bought lab equipment so that he could study his daughters DNA himself and in the process, he became a symbol for the do-it-yourself biology movement, and a trailblazer in using DNA technologies to diagnose a rare disease (see Nature 449, 773776; 2007). … Continue reading →

Public release date: 26-Jun-2013 [ | E-mail | Share ] Contact: Hilary Glover hilary.glover@biomedcentral.com 44-020-319-22370 BioMed Central Focusing on parts rather than the whole, when it comes to genome sequencing, might be extremely useful, finds research in BioMed Central's open access journal Genome Medicine. The research compares several sequencing technologies in the same individual with Charcot-Marie-Tooth disease (CMT), and shows that sequencing the coding regions alone at high depth of coverage can identify the genetic variation behind this disease, and was also able to resolve previous ambiguities. Next generation sequencing for understanding human DNA variation and genetic disorders is advancing in leaps and bounds. Whole genome sequencing reads all of an individual's DNA, whereas exome sequencing captures only the parts of the DNA which code for proteins. Exome sequencing is faster and cheaper, but concerns have previously been raised that it misses important information. A team from Baylor College of Medicine led by Prof. James Lupski and Prof. Richard Gibbs compared several different exome and whole genome sequencing technologies on DNA from the same person with CMT. Prof. Jim Lupski explained, "Both methods were able to find the same 12 variants which affect cellular response to specific drugs such as … Continue reading →

Public release date: 26-Jun-2013 [ | E-mail | Share ] Contact: Stylianos Antonarakis stylianos.antonarakis@unige.ch 41-223-795-708 Universit de Genve Down syndrome, more commonly known as "trisomy 21" is very often accompanied by pathologies found in the general population: Alzheimer's disease, leukemia, or cardiac deficiency. In a study conducted by Professor Stylianos Antonarakis' group from the Faculty of Medicine of the University of Geneva (UNIGE), researchers have identified the genomic variations associated with trisomy 21, determining the risk of congenital heart disease in people with Down syndrome. The targeted and specific study of chromosome 21 revealed two genomic variations, which, in combination, are the hallmark of hereditary cardiac deficiency. These results are being published in the journal Genome Research and add to other research conducted by the same team about chronic myeloid leukemia, a severe form of leukemia that often affects people with Down syndrome. The journal Blood is publishing these advances in the understanding of a disease which, like hereditary cardiac deficiencies or early Alzheimer's, affects the general population. Heart disease is a common disorder of Down syndrome. While the presence of a third gene in the n21 pair (which characterizes the disease) increases the risk of heart disease, it is … Continue reading →

MANILA - Two congressmen who died after undergoing stem cell therapy abroad were already sick before getting treatment, Health Secretary Enrique Ona said Tuesday. Speaking to reporters, Ona refused to say if stem cell treatment caused the deaths of congressmen Erico Aumentado and Pedro Romualdo. Both lawmakers died of pneumonia. "First hindi ko alam yun. Second, ang information that we got: It has nothing to do Ibig sabihin, they were already very sick bago nagpa-so-called stem call, baka sakali," he said in the interview. On the other hand, the health secretary said clinics or hospitals in the Philippines offering stem cell treatments should be duly licensed by the Department of Health. Dapat yung mga clinic or mga ospital na gumagawa noon kailangang mayroong license, approved ngayon ng DOH. Kaya iinspekyunin sila," he said. House Speaker Sonny Belmonte earlier confirmed Aumentado and Romualdo had died after undergoing stem cell treatment in Germany last year. He clarified that it has not been established whether stem cell therapy was the cause of death. Belmonte said that after having stem cell therapy, the 2 felt rejuvenated and may have exerted themselves during the last election campaign. Belmonte said Aumentado even started walking around without … Continue reading →

Should there be a law on stem cell therapy? The House of Representatives (HOR) has no idea. And for the sake of finding answer, House leaders intend to consult with medical experts about the issues surrounding the procedure. Speaker Feliciano Sonny Belmonte Jr. admits lawmakers need an expert opinion before they take any legislative action on reports about the negative effects of the expensive treatment. At this point, we have absolutely no basis to say that it was wrong (or) it wasnt wrong (or) it should be regulated, it should not be regulated, Belmonte said. Belmonte issued the statement after the Philippine Medical Association (PMA) said it is looking into the recent deaths of three politicians, who died after receiving xenogenic treatment in Germany. PMA president Dr. Leo Olarte said his group is still trying to find out whether politicians died due to their illness or due to hypersensitive reaction from animal-based stem cell treatments they received. On Monday, Belmonte revealed that Camiguin Rep. Pedro Romualdo underwent stem cell treatment in Germany before he died in April due to pneumonia. Incoming Bohol Rep. Aris Aumentado also admitted his father, the late Bohol Rep. Erico Aumentado, had undergone similar treatment in … Continue reading →

A leading researcher into severe spinal cord injuries on Wednesday said trials for stem-cell therapy showed groundbreaking results in giving immobile patients the ability to walk again. After progress in a second round of tests using stem cells to regrow nerve fibres, the China Spinal Cord Injury Network (ChinaSCINet) has applied for regulatory approval in China for a third and final phase, which it hopes to start in the autumn. "This will convince the doctors of the world that they do not need to tell patients 'you will never walk again'," US-based doctor Wise Young, chief executive officer of ChinaSCINet, told AFP. He said that 15 out of 20 patients in the Chinese city of Kunming, who received umbilical cord blood cell transplants and intensive walking therapy, were on average able to walk with minimal assistance seven years after complete spinal cord injury. "It's the first time in human history that we can see the regeneration of the spinal cord," Young said. The treatment involves injecting umbilical cord blood mononuclear cells into patients' damaged spines to help regenerate nerves, while lithium is used to promote the growth of the nerve fibres. Each component of the combination therapy will be tested … Continue reading →