Few areas of biomedical research have benefited more from next-gen sequencing than studies of rare inherited diseases. Rapid, inexpensive exome sequencing in individuals with rare, presumably-monogenic diseases has been hugely successful over the past few years. There’s been a lot of discussion in the NGS community about the analysis burden of the large-scale whole-genome sequencing […]... Read more »
Koboldt DC, Larson DE, Sullivan LS, Bowne SJ, Steinberg KM, Churchill JD, Buhr AC, Nutter N, Pierce EA, Blanton SH.... (2014) Exome-Based Mapping and Variant Prioritization for Inherited Mendelian Disorders. American journal of human genetics. PMID: 24560519
This month I will be focusing on sleep and the brain. The importance of sleep to normal and abnormal brain functioning is receiving increased research attention.A variety of sleep abnormalities have been described in major depression and bipolar affective disorder. Depression has been linked to delayed sleep onset, reduced time to first rapid eye movement (REM) period, reduced sleep efficiency and disruption of the circadian rhythm of sleep.Sleep physiology also varies throughout the lifesp........ Read more »
Robillard, R., Naismith, S., Smith, K., Rogers, N., White, D., Terpening, Z., Ip, T., Hermens, D., Whitwell, B., Scott, E.... (2014) Sleep-Wake Cycle in Young and Older Persons with a Lifetime History of Mood Disorders. PLoS ONE, 9(2). DOI: 10.1371/journal.pone.0087763
Michele MarksteinUsing a new approach to systematically test chemotherapy drugs in an unusual animal model, a research team led by University of Massachusetts Amherst molecular biologist Michele Markstein, with Norbert Perrimon at Harvard Medical School, report that several have a serious side effect: Inducing hyper proliferation in stem cells that could lead to tumor recurrence.Markstein says, “We discovered that several chemotherapeutics that stop fast growing tumors have the opposite effect........ Read more »
Markstein, M., Dettorre, S., Cho, J., Neumuller, R., Craig-Muller, S., & Perrimon, N. (2014) Systematic screen of chemotherapeutics in Drosophila stem cell tumors. Proceedings of the National Academy of Sciences. DOI: 10.1073/pnas.1401160111
Dr. Robert A.J. Signer (left) and Dr. Sean MorrisonImage courtesy of UT Southwestern Medical CenterFor the first time, researchers have shown that an essential biological process known as protein synthesis can be studied in adult stem cells – something scientists have long struggled to accomplish. The groundbreaking findings from the Children’s Medical Center Research Institute at UT Southwestern (CRI) also demonstrate that the precise amount of protein produced by blood-forming stem cells i........ Read more »
Signer, R., Magee, J., Salic, A., & Morrison, S. (2014) Haematopoietic stem cells require a highly regulated protein synthesis rate. Nature. DOI: 10.1038/nature13035
Kevin Kit ParkerAfter more than a decade of advances in stem cell research, almost anyone with a basic understanding of life sciences understands that stem cells are the basic form of cell from which all the other specialized cells, and eventually organs and body parts, derive.But what makes a "good" stem cell, one that can reliably be used in drug development, and for disease study? Researchers have made enormous strides in understanding the process of cellular reprogramming, and ho........ Read more »
Sheehy, S., Pasqualini, F., Grosberg, A., Park, S., Aratyn-Schaus, Y., & Parker, K. (2014) Quality Metrics for Stem Cell-Derived Cardiac Myocytes. Stem Cell Reports. DOI: 10.1016/j.stemcr.2014.01.015
A new study by researchers at the Karolinska Institutet,Sweden suggests that the expression of the so called MYC gene is important and necessary for neurogenesis in the spinal cord. The findings appear in the journal EMBO Reports .The MYC gene encodes the protein with the same name, and has an important role in many cellular processes such as proliferation, metabolism, cell death and the potential of differentiation from immature stem cell s to different types of specialized cells . Importantly........ Read more »
Zinin N, Adameyko I, Wilhelm M, Fritz N, Uhlén P, Ernfors P, & Henriksson MA. (2014) MYC proteins promote neuronal differentiation by controlling the mode of progenitor cell division. EMBO reports. PMID: 24599748
Today I'm highlighting the paper by Krystle Graham and colleagues  which talked about a possible association between the presence of urinary tract infections (UTIs) in various types of psychosis. With my interest in all things biology-behaviour, remembering such posts as impulsivity and uric acid (see here), once again we have an example of how the two areas just might fit together.The bullfighter (deceased) @Manet @Wikipedia So, take several groups of adult........ Read more »
Prehistoric giant virus buried in the Siberian ice recovered from a scientific expedition. No, it is not the plot of “The Thing”, but the utter truth: a thirty- thousand- year old virus, whose dimensions are 50 times bigger than the ones of average virus from today, was found by Abergel and Claverie’s team in the Russian permafrost.... Read more »
Legendre M, Bartoli J, Shmakova L, Jeudy S, Labadie K, Adrait A, Lescot M, Poirot O, Bertaux L, Bruley C.... (2014) Thirty-thousand-year-old distant relative of giant icosahedral DNA viruses with a pandoravirus morphology. Proceedings of the National Academy of Sciences of the United States of America. PMID: 24591590
Philippe N, Legendre M, Doutre G, Couté Y, Poirot O, Lescot M, Arslan D, Seltzer V, Bertaux L, Bruley C.... (2013) Pandoraviruses: amoeba viruses with genomes up to 2.5 Mb reaching that of parasitic eukaryotes. Science (New York, N.Y.), 341(6143), 281-6. PMID: 23869018
That an early pregnancy is protective against breast cancer is something I've known for ten years now. I remember one of my professors, back when I started studying genetics, saying: "Having a baby at 16 may ruin your life but it sure protects you from breast cancer." Today we know a lot more about the cellular and genetic mechanisms that a first pregnancy triggers in the body. And yet how these mechanisms turn out to be protective against breast cancer is still a mystery. "The ovarian hormones,........ Read more »
Medina D. (2005) Mammary developmental fate and breast cancer risk. Endocrine-related cancer, 12(3), 483-95. PMID: 16172188
Meier-Abt F, & Bentires-Alj M. (2014) How pregnancy at early age protects against breast cancer. Trends in molecular medicine, 20(3), 143-153. PMID: 24355762
The Effect of Cadence Manipulation on Plantar Pressures... Read more »
Wellenkotter, J., Kernozek, T., Meardon, S., & Suchomel, T. (2014) The Effects of Running Cadence Manipulation on Plantar Loading in Healthy Runners. International Journal of Sports Medicine. DOI: 10.1055/s-0033-1363236
To identify the mutations that generated the most relapse-prone leukemia, the scientists competed single cancer cells against each other within a zebrafish.Credit: Jessica Blackburn/Massachusetts General HospitalHarvard stem cell scientists have identified a mutation in human cases of acute lymphoblastic leukemia that likely drives relapse. The research, published in Cancer Cell, could translate into improved patient care strategies for this particular blood cancer, which typically affects chil........ Read more »
Jessica S. Blackburn, Sali Liu, Jayme L. Wilder, Kimberly P. Dobrinski, Riadh Lobbardi, Finola E. Moore, Sarah A. Martinez, Eleanor Y. Chen, Charles Lee, David M. Langenau. (2014) Clonal Evolution Enhances Leukemia-Propagating Cell Frequency in T Cell Acute Lymphoblastic Leukemia through Akt/mTORC1 Pathway Activation. Cancer Cell. info:/10.1016/j.ccr.2014.01.032
The paper by Michael Benrós and colleagues  talking about an "increased risk of subsequent autoimmune diseases in individuals with schizophrenia" caught my eye recently. Based on a trawl of the records of several thousands of people with "schizophrenia-like psychosis" or "individuals with autoimmune disease" derived from Danish nationwide registers (see here for some background), the authors were able to conclude that "Autoimmune diseases developed subsequently in 3.6% of people wi........ Read more »
Benrós ME, Pedersen MG, Rasmussen H, Eaton WW, Nordentoft M, & Mortensen PB. (2013) A Nationwide Study on the Risk of Autoimmune Diseases in Individuals With a Personal or a Family History of Schizophrenia and Related Psychosis. The American journal of psychiatry. PMID: 24129899
Engineering artificial teeth without current complications.... Read more »
Bullock, M. (2013) Principles and practice of single implant and restoration. BDJ, 215(2), 100-100. DOI: 10.1038/sj.bdj.2013.733
Patients in the Intensive Care Unit (ICU) often develop cognitive deficits. The symptoms are very similar to Alzheimer’s and other forms of dementia. New research focuses on this link. ... Read more »
Pandharipande PP1, Girard TD, Jackson JC, Morandi A, Thompson JL, Pun BT, Brummel NE, Hughes CG, Vasilevskis EE, Shintani AK, Moons KG, Geevarghese SK, Canonico A, Hopkins RO, Bernard GR, Dittus RS, Ely EW; BRAIN-ICU Study Investigators. (2014) Long-Term Cognitive Impairment after Critical Illness. New England Journal of Medicine, 370(2), 184-186. DOI: 10.1056/NEJMc1313886
Bohannon, R., Maljanian, R., & Ferullo, J. (2013) Mortality and readmission of the elderly one year after hospitalization for pneumonia. Aging Clinical and Experimental Research, 16(1), 22-25. DOI: 10.1007/BF03324527
I have an awkward relationship with mathematical oncology, mostly because oncology has an awkward relationship with math. Although I was vaguely familiar that evolutionary game theory (EGT) could be used in cancer research, mostly through Axelrod et al. (2006), I never planned to work on cancer. I wasn’t eager to enter the field because I […]... Read more »
National Eating Disorder Awareness Week came and went (in the US, anyway). Posters were shared, liked, and tweeted. Pretty (but often misguided) infographics made the rounds on the internet. Local ED groups visited schools and college campuses to educate students about eating disorders. To, you know, increase awareness.
The thing is, awareness is not always a good thing. For one, as Carrie over at ED Bites mentioned, there’s a whole lot of misinformation masquerading as fact. An........ Read more »
Park, S., McSweeney, J., & Yun, G. (2009) Intervention of Eating Disorder Symptomatology Using Educational Communication Messages. Communication Research, 36(5), 677-697. DOI: 10.1177/0093650209338910
Ridolfi, D.R., & Vander Wal, J.S. (2008) Eating disorders awareness week: the effectiveness of a one-time body image dissatisfaction prevention session. Eating disorders, 16(5), 428-43. PMID: 18821366
Tillman, K.S., Arbaugh, T. Jr., & Balaban, M.S. (2012) Campus programming for National Eating Disorders Awareness Week: An investigation of stigma, help-seeking, and resource knowledge. Eating Behaviors, 13(3), 281-4. PMID: 22664413
It all starts with a mosquito bite. When a hungry mosquito pierces someone’s skin to gorge herself, she also pumps …Continue reading →... Read more »
Miotto O, Almagro-Garcia J, Manske M, Macinnis B, Campino S, Rockett KA, Amaratunga C, Lim P, Suon S, Sreng S.... (2013) Multiple populations of artemisinin-resistant Plasmodium falciparum in Cambodia. Nature genetics, 45(6), 648-55. PMID: 23624527
We love gadgets in EMS.
Dr. Bryan Bledsoe tells us that if we paint it orange and put a star of life on it, we can sell any product for a lot more money.
How much would you pay to not improve outcomes?
$50,000.00?... Read more »
Rubertsson S, Lindgren E, Smekal D, Östlund O, Silfverstolpe J, Lichtveld RA, Boomars R, Ahlstedt B, Skoog G, Kastberg R.... (2014) Mechanical chest compressions and simultaneous defibrillation vs conventional cardiopulmonary resuscitation in out-of-hospital cardiac arrest: the LINC randomized trial. JAMA : the journal of the American Medical Association, 311(1), 53-61. PMID: 24240611
Tracy Young-Pearse (left) and Christina Muratore (right)Researchers from Harvard have successfully converted skins cells from patients with early onset Alzheimer’s into the types of neurons that are affected by the disease, making it possible for the first time to study this leading form of dementia in living human cells. The research may also help in developing therapies more quickly and accurately than before.The study, led by Tracy Young-Pearse and published in the journal Human Molecular ........ Read more »
Muratore CR, Rice HC, Srikanth P, Callahan DG, Shin T, Benjamin LN, Walsh DM, Selkoe DJ, & Young-Pearse TL. (2014) The familial Alzheimer's disease APPV717I mutation alters APP processing and Tau expression in iPSC-derived neurons. Human molecular genetics. PMID: 24524897
The dissociative anesthetic and ravey club drug ketamine has been hailed as a possible “miracle” cure for depression. In contrast to the delayed action of standard antidepressants such as SSRIs, the uplifting effects of Special K are noticeable within an hour. “Experimental Medication Kicks Depression in Hours Instead of Weeks,” says the National Institute of Mental Health. NIMH has been bullish on ketamine for years now. Prominent researchers Duman and Aghajanian called it the “the mo........ Read more »
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