Gathering the clues to rare gene variants contributing to schizophrenia
Posted: February 21, 2014 at 3:47 am
PUBLIC RELEASE DATE:
20-Feb-2014
Contact: Rhiannon Bugno Biol.Psych@utsouthwestern.edu 214-648-0880 Elsevier
Philadelphia, PA, February 20, 2014 Schizophrenia has long been known to be highly heritable and is present in approximately 1% of the population. Researchers have been following two paths in their pursuit of identifying schizophrenia risk genes.
Initially, they studied common gene variants that, individually, only increase the risk for schizophrenia by a few percent, perhaps increasing the likelihood of developing schizophrenia from a 10 out of a 1000 chance to an 11 or 12 out of a 1000 chance.
More recently, research has identified gene variants that are rare in the population but, when present, more substantially increase the risk for developing schizophrenia. For example, in the current issue of Biological Psychiatry, a large collaborating group of international scientists, led by Dr. Jennifer Mulle, an Assistant Professor at Emory, report a 1.4 megabase duplication on chromosome 7 (7q11.23) that increases the risk for schizophrenia over 10 times, i.e., to 100 out of a 1000 chance (10%).
"We also found it interesting that three different disorders (schizophrenia, autism, and intellectual development) that strike at different times and present in different ways, have genetic links to this same region on chromosome 7," commented Mulle. "Our findings support the notion of a neuro-developmental link between these disorders."
In this same issue, Dr. George Kirov at Cardiff University and colleagues scanned the genome for copy number gene variants, i.e., where abnormal numbers of gene copies exist. They studied 70 of these variants, all previously implicated in schizophrenia and/or early-onset developmental disorders, such as developmental delay, intellectual deficit and autism spectrum disorders (DD/ID/ASD). They then compared the risk for carriers of these variants to develop one or more of these disorders, i.e. their genetic penetrance.
"The result might be unexpected for many: the penetrance for schizophrenia is several times lower than for the group of DD/ID/ASD. The total penetrance for any of these disorders is quite high, ranging from 10% for duplications at 16p13.11 to nearly 100% for the velocardiofacial syndrome region on chromosome 22. These findings will have implications for genetic counselling of carriers," said Kirov.
"It seems that we are at a critical point in the genetics of schizophrenia the identification of rare gene variants that substantially increase the risk for schizophrenia," said Dr. John Krystal, Editor of Biological Psychiatry. "However, we have a very limited understanding of how these genes alter brain development to produce schizophrenia and other disorders. This knowledge would seem to hold clues about mechanisms of prevention and treatment."
Go here to read the rest:
Gathering the clues to rare gene variants contributing to schizophrenia
- 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]