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Mayo Clinic study examines thoughts on predictive tests for [...]

Mayo Clinic study examines thoughts on predictive tests for [...] | Neurogenetics | Scoop.it
PHOENIX — A new Mayo Clinic study examines the question “what would you do if you knew you are predisposed to Alzheimer’s disease...
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DTC testing for Alzheimer's disease - consumer opinions

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Age-specific incidence rates for dementia and Al... [JAMA Neurol. 2014] - PubMed - NCBI

Study Objective: To determine the incidence rates of dementia and LOAD in unaffected members in the National Institute on Aging Genetics Initiative for Late-Onset Alzheimer Disease/National Cell Repository for Alzheimer Disease (NIA-LOAD/NCRAD) and Estudio Familiar de Influencia Genetica en Alzheimer (EFIGA) family studies.

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Great new article, which updates the incidence rates for AD based upon age group, sex, and APOE status (+/- e4).  Good to use for LOAD families. 

 

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The relationship between schizop... [J Geriatr Psychiatry Neurol. 2013] - PubMed - NCBI

Schizophrenia and Frontotemporal Dementia (FTD)

 

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possible relationship between schizophrenia and FTD.

 

additional information: http://bjp.rcpsych.org/content/194/4/298.full.pdf+html

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Genomic Tools: Chromosomal Microarray | Genomic Tools for Health Care Professionals

Genomic Tools: Chromosomal Microarray | Genomic Tools for Health Care Professionals | Neurogenetics | Scoop.it
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general genetics -- microarray education

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The DNA Exchange

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Check on this blog for insight from Laura Hercher, genetic counselor who talked with the author about pursuing 23andMe testing (see previous scooped article).  She did not mention potential for finding out APOE results, but was not a formal genetic counseling session.  Suggests that author would rather not have known this information... 

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Practice patterns of mitochondrial disease phy... [Mitochondrion. 2013] - PubMed - NCBI

Mitochondrial medicine is a young subspecialty. Clinicians have a limited evidence base on which to formulate clinical decisions regarding diagnosis, treatment and patient management. Mitochondrial medicine specialists have cobbled together an informal set of rules and paradigms for preventive care and management based in part on anecdotal experience. The Mitochondrial Medicine Society (MMS) assessed the current state of clinical practice from diagnosis, to preventive care and treatment, as provided by various mitochondrial disease specialists in North America. We hope that by obtaining this information we can begin moving towards formulating a set of consensus criteria and establishing standards of care.

 

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Pubmed abstract on mitochondrial disease.  two part article addressing practice standard among different mitochondrial medicine specialists.  First step towards actual practice guidelines.  

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Sequenced from the start

Sequenced from the start | Neurogenetics | Scoop.it
Four US studies are set to explore how genomic data can best help healthy and ill newborns. They must also settle some questions of ethics.
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Not neuro-specific topic, but very interesting.  Research planned to sequence genome of newborns.  Part of study being completed in Boston area hospitals. 

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AlzGene

Publicly available, continuously updated database that comprehensively catalogs all genetic association studies in the field of Alzheimer disease

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Citation: http://www.ncbi.nlm.nih.gov/pubmed/17192785?dopt=AbstractPlus

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Comment on “ApoE-Directed Therapeutics Rapidly Clear β-Amyloid and Reverse Deficits in AD Mouse Models”

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Another potential "cure" for Mouseheimers...

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Controversies and priorities in amyotrophic la... [Lancet Neurol. 2013] - PubMed - NCBI

PubMed comprises more than 22 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.
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great new paper on updates in ALS genetics.

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Autism spectrum diagnoses: The DSM-5 eliminates Asperger’s and PDD-NOS.

Autism spectrum diagnoses: The DSM-5 eliminates Asperger’s and PDD-NOS. | Neurogenetics | Scoop.it
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new DSM-5 is lumping Asperger's and PDD-NOS in with ASD.  obvious controversy surrounding this - interesting to see if impacts what we see reflected in family histories.

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Tricia S's comment, May 23, 2013 9:25 AM
DSM-5 includes new qualifiers (including intellectual disability, language ability, and regression) and severity levels (1 to 3) designed to capture the wide range of symptoms. To receive a diagnosis of autism spectrum disorder, a child must present with deficits in two categories: social communication and restricted, repetitive behavior. A severity level is assigned to each of these dimensions. A child may walk out of an evaluation by a developmental pediatrician with the following diagnosis: “autism spectrum disorder with intellectual delay and regression; social communication severity level 3; restricted, repetitive behavior severity level 2.
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Neuron - Alzheimer’s Disease Risk Gene CD33 Inhibits Microglial Uptake of Amyloid Beta

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full citation: Alzheimer’s Disease Risk Gene CD33 Inhibits Microglial Uptake of Amyloid Beta

Ana Griciuc, Alberto Serrano-Pozo, Antonio R. Parrado, Andrea N. Lesinski, Caroline N. Asselin, Kristina Mullin, Basavaraj Hooli, Se Hoon Choi, Bradley T. Hyman, Rudolph E. Tanzi

Neuron - 25 April 2013

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Rare variants in APP, PSEN1 and PSEN2 increase risk... [PLoS One. 2012] - PubMed - NCBI

interesting article

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Preventing Alzheimer's: Study Shows Diet and Exercise Are Effective

Preventing Alzheimer's: Study Shows Diet and Exercise Are Effective | Neurogenetics | Scoop.it
In a groundbreaking study that looked at how diet, exercise and other non-drug interventions affect cognitive decline, researchers see some hope for relatively easy dementia-fighting strategies
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link to pubmed abstract describing study design: http://www.ncbi.nlm.nih.gov/pubmed/23332672

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Ethics Questions Arise as Genetic Testing of Embryos Increases

Ethics Questions Arise as Genetic Testing of Embryos Increases | Neurogenetics | Scoop.it
Genetic testing of embryos raises unsettling ethical questions that trouble advocates for the disabled and have left some doctors struggling with what they should tell their patients.
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Article about PGD for genetic prion disease.
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Inside 23andMe founder Anne Wojcicki's $99 DNA Revolution

Inside 23andMe founder Anne Wojcicki's $99 DNA Revolution | Neurogenetics | Scoop.it
The $126 million genetic-testing company can tell you how to live smarter better and longer. It can also tell you what might kill you.
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Interesting article on 23andMe.  Towards end of article, author mentions meeting with a genetic counselor and finding out her daughter is APOE 4/4.  Meeting with a genetic counselor prior to testing would have been better.  Also touches upon BabySeq project funded by the NIH (end of article).

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Parkinson's Patients at Genetic Risk for Dementia Might Be Identified Sooner

Parkinson's Patients at Genetic Risk for Dementia Might Be Identified Sooner | Neurogenetics | Scoop.it
FRIDAY, Sept. 20 (HealthDay News) -- Blood tests might be able to help identify Parkinson's disease patients with the greatest risk of developing dementia, a new study suggests. A genetic mutation ...
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In laboratory dish, researchers shut down extra chromosome that causes Down syndrome - Boston.com

In laboratory dish, researchers shut down extra chromosome that causes Down syndrome - Boston.com | Neurogenetics | Scoop.it
Researchers at the University of Massachusetts Medical School have shown that it is possible to do what had once seemed unthinkable -- shut down the extra chromosome that causes the developmental problems and intellectual disabilities in people...
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SORL1 is genetically associated with late-onset Alz... [PLoS One. 2013] - PubMed - NCBI

SORL1 is genetically associated with late-onset Alz... [PLoS One. 2013] - PubMed - NCBI | Neurogenetics | Scoop.it

"These data demonstrate for the first time genome-wide significance of LOAD with SORL1 and confirm the role of other known loci for LOAD in Japanese. Our study highlights the importance of examining associations in multiple ethnic populations."

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Of note: the two genome-wide significant SNPs in this study are both intronic.  Effect of gene on risk is likely modest.  Functional studies are needed.   Clinical genetic testing not available.

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Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians

Neurobiology of Aging, Volume 34, Issue 5, Pages 1519.e5-1519.e12, May 2013, Authors:Martin A. Kohli; Krista John-Williams; Ruchita Rajbhandary; Adam Naj; Patrice Whitehead; Kara Hamilton; Regina M. Carney; Clinton Wright; Elizabeth Crocco; Harry E.
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new study suggesting that clinical phenotype associated with C9 expansions should include rare AD cases.  should follow this topic to see if confirmed in other studies. 

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What Causes Lou Gehrig's Sticky Masses? - ScienceNOW

What Causes Lou Gehrig's Sticky Masses? - ScienceNOW | Neurogenetics | Scoop.it
What Causes Lou Gehrig's Sticky Masses? - ScienceNOW
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proposed mechanism for ALS.  relates to C9 gene

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Should patients be told of unexpected risk factors lurking in their DNA? - The Boston Globe

Should patients be told of unexpected risk factors lurking in their DNA? - The Boston Globe | Neurogenetics | Scoop.it
When a national organization of genetic specialists took a stab at clarifying one of the biggest issues facing the integration of DNA sequencing into medicine in March, the bold guidelines seemed destined to stir up a hornet’s nest of controversy.
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Researchers identify Alzheimer's gene in African-Americans

Researchers identify Alzheimer's gene in African-Americans | Neurogenetics | Scoop.it
Researchers discovered ABCA7 gene had a 60 percent stronger association with Alzheimer's when found in African-Americans, compared to whites
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For full article see:

JAMA. 2013 Apr 10;309(14):1483-92.Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans.
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