Gene tech research may aid diagnosis
Posted: August 2, 2013 at 2:43 pm
Charli (8, left) and sister Meg (4), with Daisy at home in Kaitangata this week. Photo by Helena de Reus.
Charli (8) and Meg (4) Owen, of Kaitangata, have undiagnosed cerebellar ataxia, which affects their co-ordination and balance and makes them tire easily.
The sisters' geneticist, Cure Kids chairman Prof Stephen Robertson, has been working on some revolutionary research in conjunction with Prof Russell Snell, of the Centre for Brain Research in Auckland.
The research aimed to deliver methods for diagnosing such disorders in the future.
''The nub of this family's issue is a neurological disorder, which affects the girls' gait and balance. Their ataxia is not associated with any intellectual disability; it's all about balance,'' he said this week.
"A lot of people have ataxia, but in this instance we've exhausted all the tests in conventional medicine to diagnose what form they have and we're now looking in the research arena for an answer for them,'' he said.
''It's clearly genetic, but the precise cause is proving hard to pinpoint.
''What has caused it in the family and what is the prognosis? That's the big question.
"We might find something that's brand new knowledge here, but in the end I hope it provides new and useful information for the family,'' Prof Robertson said.
The human genetic constitution has about 21,000 genes accounting for about 1% of a human's DNA.
See the original post here:
Gene tech research may aid diagnosis
- Gene Therapy Could Prevent Blindness [Last Updated On: June 10th, 2010] [Originally Added On: June 10th, 2010]
- Gene Brodland Sits with Cambridge Who's Who in a Revealing Interview [Last Updated On: June 16th, 2010] [Originally Added On: June 16th, 2010]
- Researchers Make Colon Cancer Breakthrough [Last Updated On: July 20th, 2010] [Originally Added On: July 20th, 2010]
- Pro abortion- Antiabortion myth8 - Fly to India for safe abortion! [Last Updated On: October 16th, 2010] [Originally Added On: October 16th, 2010]
- New Fertility Test / Whooping Cough Alert / Gene Therapy for Depression [Last Updated On: October 21st, 2010] [Originally Added On: October 21st, 2010]
- Alzheimer's Breakthrough? [Last Updated On: October 23rd, 2010] [Originally Added On: October 23rd, 2010]
- Audio Genetics Lab - Native Flute - MP3Tera Forums [Last Updated On: December 8th, 2010] [Originally Added On: December 8th, 2010]
- Gene Therapy - Cortical Studios [Last Updated On: May 8th, 2011] [Originally Added On: May 8th, 2011]
- There Shall Be Physicians for the Spirit: USC Institute for Genetic Medicine Art Gallery [Last Updated On: May 8th, 2011] [Originally Added On: May 8th, 2011]
- IRRI: Rice genetic diversity and discovery [Last Updated On: May 8th, 2011] [Originally Added On: May 8th, 2011]
- Research Symposium: Mork Depart - 2006 - Video 1 [Last Updated On: May 8th, 2011] [Originally Added On: May 8th, 2011]
- Mendelian Genetics [Last Updated On: May 8th, 2011] [Originally Added On: May 8th, 2011]
- Ayurveda [Last Updated On: May 8th, 2011] [Originally Added On: May 8th, 2011]
- Drs. Kaspar and MacKenzie discuss the promise and path forward for SMA Gene Therapy [Last Updated On: May 8th, 2011] [Originally Added On: May 8th, 2011]
- 3. Genetic Engineering [Last Updated On: May 8th, 2011] [Originally Added On: May 8th, 2011]
- Prof. Martinez Cruzado Lecture Part 3 "Amerindian Gene Study In Puerto Rico" [Last Updated On: May 8th, 2011] [Originally Added On: May 8th, 2011]
- Gene Therapy Research Makes Nationwide Children's Worthy of Wellstone Center [Last Updated On: May 8th, 2011] [Originally Added On: May 8th, 2011]
- Gene Therapy Example [Last Updated On: May 9th, 2011] [Originally Added On: May 9th, 2011]
- Sweet Tooth Gene [Last Updated On: May 9th, 2011] [Originally Added On: May 9th, 2011]
- OHSU's video of new gene therapy method developed at the Oregon National Primate Research Center [Last Updated On: May 9th, 2011] [Originally Added On: May 9th, 2011]
- Gregor Mendel's Punnett Squares [Last Updated On: May 9th, 2011] [Originally Added On: May 9th, 2011]
- Ethical Concerns With Genetic Engineering [Last Updated On: May 9th, 2011] [Originally Added On: May 9th, 2011]
- Dr. Laura Niklason on the importance of her AFAR grants for telomerase gene therapy research [Last Updated On: May 9th, 2011] [Originally Added On: May 9th, 2011]
- What is the future of genetic medicine? [Last Updated On: May 9th, 2011] [Originally Added On: May 9th, 2011]
- Prof. Martinez Cruzado Lecture Part 2 "Amerindian Gene Study In Puerto Rico" [Last Updated On: May 9th, 2011] [Originally Added On: May 9th, 2011]
- Jewish DNA - Genetic Research and The Origins of the Jewish People [Last Updated On: May 9th, 2011] [Originally Added On: May 9th, 2011]
- Future of genetic engineering - by Futurist Dr Patrick Dixon. Genetic mutations and genetic disorders. Gene science by conference keynote speaker [Last Updated On: May 11th, 2011] [Originally Added On: May 11th, 2011]
- annstewart82's Genetic Medicine and God [Last Updated On: May 13th, 2011] [Originally Added On: May 13th, 2011]
- Genetic research could unlock breeding seasons in sheep [Last Updated On: May 13th, 2011] [Originally Added On: May 13th, 2011]
- Genetics 101 Part 1: What are genes? [Last Updated On: May 13th, 2011] [Originally Added On: May 13th, 2011]
- Molecular and Cellular Foundations of Medicine, 1 of 2 [Last Updated On: May 13th, 2011] [Originally Added On: May 13th, 2011]
- Dan Arking of Johns Hopkins Medicine [Last Updated On: May 17th, 2011] [Originally Added On: May 17th, 2011]
- Genetics : How Is Gene Therapy Done? [Last Updated On: May 19th, 2011] [Originally Added On: May 19th, 2011]
- Gene Therapy Shows Promise for Blindness [Last Updated On: May 19th, 2011] [Originally Added On: May 19th, 2011]
- Tomato suicide gene therapy [Last Updated On: May 19th, 2011] [Originally Added On: May 19th, 2011]
- Cancer Alternative Treatment - Gene Therapy for Cancer a Report from Channel 4 News [Last Updated On: May 19th, 2011] [Originally Added On: May 19th, 2011]
- Muscular Dystrophy Gene Therapy: ScienCentral News Video [Last Updated On: May 19th, 2011] [Originally Added On: May 19th, 2011]
- Sickle Cell Anemia -- Hope from Gene Therapy [Last Updated On: May 19th, 2011] [Originally Added On: May 19th, 2011]
- Challenges of gene therapy [Last Updated On: May 19th, 2011] [Originally Added On: May 19th, 2011]
- Pain Gene Therapy [Last Updated On: May 19th, 2011] [Originally Added On: May 19th, 2011]
- Gene therapy success 'reverses' blindness [Last Updated On: May 19th, 2011] [Originally Added On: May 19th, 2011]
- DNA Gene Therapy [Last Updated On: May 19th, 2011] [Originally Added On: May 19th, 2011]
- The Neural Circuitry of Perception [Last Updated On: May 19th, 2011] [Originally Added On: May 19th, 2011]
- Resetting Metabolism- Nuclear Receptors and AMPK: A Lecture by Ronald Evans, PhD [Last Updated On: May 19th, 2011] [Originally Added On: May 19th, 2011]
- Islands at Risk (Part 2) - Genetic Engineering in Hawai'i [Last Updated On: May 19th, 2011] [Originally Added On: May 19th, 2011]
- Gene Therapy journal videocast from ASGCT 2011 Xiao Xiao on gene therapy for muscular dystrophy [Last Updated On: May 20th, 2011] [Originally Added On: May 20th, 2011]
- HYBRID HUMANS-Hair Follicle Gene Therapy [Last Updated On: May 20th, 2011] [Originally Added On: May 20th, 2011]
- Genetics 101 Part 4: What is phenotype? [Last Updated On: May 20th, 2011] [Originally Added On: May 20th, 2011]
- Lloyd Pye - Ancient Genetic Engineering [Last Updated On: May 20th, 2011] [Originally Added On: May 20th, 2011]
- Study Designs: Genetic Association Studies [Last Updated On: May 20th, 2011] [Originally Added On: May 20th, 2011]
- Gene Therapy for Genetic Disease: The Long and Winding Road [Last Updated On: May 20th, 2011] [Originally Added On: May 20th, 2011]
- Introduction to Population Genetics [Last Updated On: May 20th, 2011] [Originally Added On: May 20th, 2011]
- Islands at Risk (Part 1) - Genetic Engineering in Hawai'i [Last Updated On: May 20th, 2011] [Originally Added On: May 20th, 2011]
- Genetics Based Research on Treatment-Resistant Epilepsy [Last Updated On: May 20th, 2011] [Originally Added On: May 20th, 2011]
- Science in Action: Gene Therapy for Color Blindness [Last Updated On: May 21st, 2011] [Originally Added On: May 21st, 2011]
- Gregg Semenza of Johns Hopkins Medicine on HIF 1 [Last Updated On: May 21st, 2011] [Originally Added On: May 21st, 2011]
- The Sleepiness Gene [Last Updated On: May 21st, 2011] [Originally Added On: May 21st, 2011]
- Blind Gene Therapy [Last Updated On: May 21st, 2011] [Originally Added On: May 21st, 2011]
- Richard Dawkins and Dr Yan on genetic ancestry (extended version) - Bang Goes the Theory - BBC One [Last Updated On: May 22nd, 2011] [Originally Added On: May 22nd, 2011]
- Joshua Mendell of Johns Hopkins Medicine [Last Updated On: May 22nd, 2011] [Originally Added On: May 22nd, 2011]
- Genetic/Genomic Faculty Champion Initiative (PM session) [Last Updated On: May 22nd, 2011] [Originally Added On: May 22nd, 2011]
- euronews science - Epigenetics [Last Updated On: May 22nd, 2011] [Originally Added On: May 22nd, 2011]
- The Genetic Age, Panel 1 [Last Updated On: May 22nd, 2011] [Originally Added On: May 22nd, 2011]
- Biobanking and Bioethics: When Genetics Research Hits the Courts [Last Updated On: May 22nd, 2011] [Originally Added On: May 22nd, 2011]
- Gene Therapy journal videocast from ASGCT 2011 Darren Wolfe on gene therapy for pain.m4v [Last Updated On: May 23rd, 2011] [Originally Added On: May 23rd, 2011]
- Genetics 101 Part 3: Where do your genes come from? [Last Updated On: May 23rd, 2011] [Originally Added On: May 23rd, 2011]
- ASHG 2010 Mtg.: "Complex Disease Genetics Research in Populations" (Dr. Carlos Bustamente) [Last Updated On: May 23rd, 2011] [Originally Added On: May 23rd, 2011]
- Public Talk - Prof Leonard Seymour, Oxford [Last Updated On: May 23rd, 2011] [Originally Added On: May 23rd, 2011]
- A New Era in Medicine: Genetics [Last Updated On: May 23rd, 2011] [Originally Added On: May 23rd, 2011]
- Genetic Engineering Animation [Last Updated On: May 23rd, 2011] [Originally Added On: May 23rd, 2011]
- Linda Brzustowicz - Genetic Causes of Schizophrenia [Last Updated On: May 23rd, 2011] [Originally Added On: May 23rd, 2011]
- Hadassah Gene Therapy Center [Last Updated On: May 23rd, 2011] [Originally Added On: May 23rd, 2011]
- Gene Therapy journal videocast from ASGCT 2011 Robin Ali on gene therapy for retinal disease [Last Updated On: May 23rd, 2011] [Originally Added On: May 23rd, 2011]
- UF cardiologists study gene-modified stem cells to help Dobermans with common heart condition [Last Updated On: May 23rd, 2011] [Originally Added On: May 23rd, 2011]
- Akhilesh Pandey of Johns Hopkins Medicine [Last Updated On: May 23rd, 2011] [Originally Added On: May 23rd, 2011]
- China's Cancer Drug - China [Last Updated On: May 23rd, 2011] [Originally Added On: May 23rd, 2011]
- Genetic Therapy Restored Boy's Sight [Last Updated On: May 24th, 2011] [Originally Added On: May 24th, 2011]
- Molecular and Cellular Foundations of Medicine Class, 2 of 2 [Last Updated On: May 24th, 2011] [Originally Added On: May 24th, 2011]
- Talking Research - Professor George Ebers - Vitamin D and genetics in MS [Last Updated On: May 24th, 2011] [Originally Added On: May 24th, 2011]
- Designing Humanity - Genetic Engineering [Last Updated On: May 30th, 2011] [Originally Added On: May 30th, 2011]