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Kevin Punsky (@kevinpunsky)

Activity by Kevin Punsky

Kevin Punsky (@kevinpunsky) posted · Fri, Sep 19 11:16am · View  

Mayo Researchers Reveal Pathway that Contributes to Alzheimer’s Disease

Loss of LRP6 in neurons leads to enhanced buildup of amyloid protein, a pathological hallmark of Alzheimer's disease.

Loss of LRP6 in neurons leads to enhanced buildup of amyloid protein, a pathological hallmark of Alzheimer's disease.

JACKSONVILLE, Fla. — Researchers at Jacksonville’s campus of Mayo Clinic have discovered a defect in a key cell-signaling pathway they say contributes to both overproduction of toxic protein in the brains of Alzheimer’s disease patients as well as loss of communication between neurons — both significant contributors to this type of dementia.

Their study, in the online issue of Neuron, offers the potential that targeting this specific defect with drugs “may rejuvenate or rescue this pathway,” says the study’s lead investigator, Guojun Bu, Ph.D., a neuroscientist at Mayo Clinic, Jacksonville, Fla.

“This defect is likely not the sole contributor to development of Alzheimer’s disease, but our findings suggest it is very important, and could be therapeutically targeted to possibly prevent Alzheimer’s or treat early disease,” he says.

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Kevin Punsky (@kevinpunsky) posted · Wed, Sep 17 9:17am · View  

Estudo mundial demonstra a precisão de análises genética

E. Aubrey Thompson, Ph.D., Mayo Clinic in Florida

E. Aubrey Thompson, Ph.D., Mayo Clinic in Florida

JACKSONVILLE, Flórida, — Os médicos anteveem um futuro em que os dados do genoma de pacientes são bastante usados para gerir sua saúde — mas os especialistas questionam a precisão e a confiabilidade dessas análises. Agora, estudo realizado por 150 pesquisadores, em 12 países, verifica que há consistência e similares reais em técnicas e laboratórios de sequenciamento genômico de RNA, bem como em maneiras de corrigir pequenas variações existentes, para estabelecer um novo alto padrão.

Os resultados do estudo foram publicados pelo periódico Nature Biotechnology, em três artigos sobre a pesquisa.

“Os resultados devem oferecer uma certeza a pacientes, médicos e à comunidade de pesquisa de que o sequenciamento genômico é preciso”, diz o professor de biologia do câncer E. Aubrey Thompson, da Clínica Mayo da Flórida, uma das três instituições de saúde que lideraram o estudo. Thompson é um dos coautores do estudo e integrante da liderança do projeto. [...]

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Kevin Punsky (@kevinpunsky) posted · Wed, Sep 17 9:12am · View  

Estudio mundial demuestra la precisión de los análisis genéticos

E. Aubrey Thompson, Ph.D., Mayo Clinic in Florida

E. Aubrey Thompson, Ph.D., Mayo Clinic in Florida

JACKSONVILLE, Florida, — Médicos visualizan un futuro en el que los datos genómicos de los pacientes sean fuertemente utilizados para conducir la atención y cuidados de los enfermos. Pero los expertos han cuestionado la exactitud y fiabilidad de estos análisis. Ahora, un estudio realizado por 150 investigadores, en 12 países, revela una verdadera solidez y concordancia en las técnicas de secuenciación de ARN genómico y los laboratorios en todo su espectro, como también en las formas de mejorar la poca variabilidad que existe, para establecer un nuevo alto estándar.

Los resultados del estudio fueron publicados en Nature Biotechnology, en tres artículos de investigación independientes.

“Estos resultados deberían ofrecer garantía a los pacientes, a los médicos y a la sociedad de investigación de que la secuenciación genómica es exacta”, expresa E. Aubrey Thompson, Ph.D., profesor de biología del cáncer en la Clínica Mayo en Florida, una de las tres instituciones que dirigió el estudio. El Dr. Thompson es coautor del estudio y miembro de la dirección del proyecto. [...]

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Kevin Punsky (@kevinpunsky) posted · Fri, Sep 12 10:33am · View  

Worldwide Study Demonstrates Accuracy of Genetic Analyses

E. Aubrey Thompson, Ph.D., Mayo Clinic in Florida

E. Aubrey Thompson, Ph.D., Mayo Clinic in Florida

JACKSONVILLE, Fla. — Physicians envision a future in which genomic data from patients is heavily used to manage care — but experts have questioned the accuracy and reliability of these analyses. Now, a study by 150 researchers in 12 countries finds real strength and agreement across RNA genomic sequencing techniques and laboratories — as well as ways to improve what little variability exists to set a new high standard.

The results of the study were published in Nature Biotechnology in three separate research articles.

These results should provide assurance to patients, clinicians and the research community that genomic sequencing is accurate, says E. Aubrey Thompson, Ph.D., a professor of cancer biology at Mayo Clinic in Florida, one of three institutions that led the study. Dr. Thompson is a study co-author and member of the project leadership. [...]

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Kevin Punsky (@kevinpunsky) posted · Wed, Aug 13 7:40am · View  

Researchers develop strategy to combat genetic ALS, FTD

Potential biomarker discovered to monitor disease progression, therapy

The C9ORF72 mutation leads to the production of abnormal proteins, referred to as “c9RAN proteins”, that accumulate in neurons and form inclusions. Depicted here are inclusions composed of poly(GP) c9RAN proteins in the cerebellum of a c9FTD/ALS case. In our study, we show that these poly(GP) proteins are also detected in cerebrospinal fluid (CSF) of c9ALS patients, suggesting that poly(GP) proteins in CSF may eventually provide a direct means to measure a patient’s response to experimental drugs that block c9RAN protein production.

The C9ORF72 mutation leads to the production of abnormal proteins, referred to as “c9RAN proteins”, that accumulate in neurons and form inclusions. Depicted here are inclusions composed of poly(GP) c9RAN proteins in the cerebellum of a c9FTD/ALS case. In our study, we show that these poly(GP) proteins are also detected in cerebrospinal fluid (CSF) of c9ALS patients, suggesting that poly(GP) proteins in CSF may eventually provide a direct means to measure a patient’s response to experimental drugs that block c9RAN protein production.

JACKSONVILLE, Fla. — A team of researchers at Mayo Clinic and The Scripps Research Institute in Florida have developed a new therapeutic strategy to combat the most common genetic risk factor for the neurodegenerative disorders amyotrophic lateral sclerosis (ALS or Lou Gehrig’s disease) and frontotemporal dementia (FTD). In the Aug. 14 issue of Neuron, they also report discovery of a potential biomarker to track disease progression and the efficacy of therapies.

The scientists developed a small-molecule drug compound to prevent abnormal cellular processes caused by a mutation in the C9ORF72 gene. The findings come on the heels of previous discoveries by Mayo investigators that the C9ORF72 mutation produces an unusual repetitive genetic sequence that causes the buildup of abnormal RNA in brain cells and spinal cord.

While toxic protein clumps have long been implicated in neurodegeneration, this new strategy takes aim at abnormal RNA, which forms before toxic proteins in C9ORF72-related disorders (c9FTD/ALS). “Our study shows that toxic RNA produced in people with the c9FTD/ALS mutation is indeed a viable drug target,” says the study’s co-senior investigator, Leonard Petrucelli, Ph.D., a molecular neuroscientist at Mayo Clinic in Florida.

The compound, which was tested in cell culture models of c9FTD/ALS, bound to and blocked RNA’s ability to interact with other key proteins, thereby preventing the formation of toxic RNA clumps and “c9RAN proteins” that results from a process called repeat-associated non-ATG (RAN) translation.

The researchers also discovered that c9RAN proteins produced by the abnormal RNA can be measured in the spinal fluid of ALS patients. They are now evaluating whether these proteins are also present in spinal fluid of patients diagnosed with FTD. Although ALS primarily affects motor neurons leading to impaired mobility, speech, swallowing, and respiratory function and FTD affects brain regions that support higher cognitive function, some patients have symptoms of both disorders.

“Development of a readily accessible biomarker for the c9FTD/ALS mutation may aid not only diagnosis of these disorders and allow for tracking disease course in patients, but it could provide a more direct way to evaluate the response to experimental treatments,” says co-author Kevin Boylan, M.D., medical director of the Mayo Jacksonville ALS Center, the only ALS Certified Center of Excellence in Florida. [...]

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Kevin Punsky (@kevinpunsky) posted · Thu, Aug 14 12:18pm · View  

Pesquisadores da Mayo Clinic desenvolvem estratégia para combater esclerose amiotrófica lateral e demência frontotemporal de origem genética

Possível biomarcador descoberto para monitorar progressão e terapia das doenças

JACKSONVILLE, Flórida — Pesquisadores da Clínica Mayo e do Instituto de Pesquisa Scripps, na Flórida, desenvolveram uma nova estratégia terapêutica para combater o fator de risco genético mais comum dos distúrbios neurodegenerativos esclerose lateral amiotrófica (ELA ou doença de Lou Gehrig) e a demência frontotemporal(DFT). Na edição de 14 de agosto do jornal Neuron, os pesquisadores relataram a descoberta de um possível biomarcador para rastrear a progressão da doença e a eficácia das terapias. [...]

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Kevin Punsky (@kevinpunsky) posted · Thu, Aug 14 12:06pm · View  

Investigadores de Mayo Clinic desarrollan estrategia para combatir la esclerosis lateral amiotrófica y la demencia frontotemporal de origen genético

Se descubrió un biomarcador potencial para controlar la progresión de la enfermedad.

JACKSONVILLE, Fla. —Un equipo de investigadores de la Clínica Mayo y del Instituto de Investigación Scripps, en Florida, han desarrollado una nueva estrategia terapéutica para combatir el factor de riesgo genético más común en el trastorno neurodegenerativo denominado esclerosis lateral amiotrófica (ELA o enfermedad de Lou Gehrig) y en la demencia frontotemporal (DFT). En la edición del 14 de agosto de Neuron, también informan el descubrimiento de un biomarcador potencial para monitorear la progresión de la enfermedad y la eficacia de las terapias. [...]

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Kevin Punsky (@kevinpunsky) posted · Tue, Jul 29 12:01pm · View  

Familia Bacardi faz doação para contribuir com avanço da pesquisa da medicina regenerativa na Mayo Clinic

JACKSONVILLE, Flórida — Imagine que no futuro pode ser possível criar novo pulmão, usando o próprio material celular do paciente; ou um dia em que será possível repor com uma injeção células que permitam curar uma lesão no cérebro, nos nervos ou em outros tecidos.

 

 

A medicina regenerativa não é mais ficção científica. É uma doação substancial de Jorge e Leslie Bacardi, das Bahamas,  irá acelerar significativamente as pesquisas do Centro de Medicina Regenerativa da Clínica Mayo, em Jacksonville, na Flórida. [...]

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