Category Archives: Gene Medicine

ScienceDaily (Oct. 10, 2012) Researchers from Mount Sinai School of Medicine have identified a six-gene signature that can be used in a test to predict survival in men with aggressive prostate cancer, according to new research published in the October issue of The Lancet Oncology. This is the first study to demonstrate how prognostic markers may be useful in a clinical setting.

Using blood from 202 men with treatment-resistant prostate cancer, researchers found six genes characteristic of treatment-resistant prostate cancer. Men with the six-gene signature were high-risk, with a survival time of 7.8 months, and men without it were low-risk, with a survival time of approximately 34.9 months. A replication study of 140 additional patients validated these findings. William K. Oh, MD, Chief of the Division of Hematology and Medical Oncology of The Tisch Cancer Institute at The Mount Sinai Medical Center, led the research team.

"There is an urgent need for predictive models that help assess how aggressive the disease is in prostate cancer patients, as survival can vary greatly," said Dr. Oh. "Our six-gene model, delivered in a simple blood test, will allow clinicians to better determine the course of action for their patients, determine clinical trial eligibility, and lead to more targeted studies in late-stage disease."

Until now, disease prognosis in advanced prostate cancer could only be determined through clinical predictors or, occasionally, tumor biopsies with only moderately predictive results. This study shows the efficacy of the six-gene model blood test in determining length of survival.

"The genes noted in the model suggest possible changes in the immune system related to late-stage disease that warrant further study as a target for immune-based therapies," said Dr. Oh.

Dr. Oh's team is conducting additional studies exploring the feasibility of the six-gene signature in other types of prostate cancer, the stability of the signature during the course of a patient's illness, and the predictive ability of this signature in patients with prostate cancer treated with immune-based therapies.

This work was done in collaboration with colleagues at Dana-Farber Cancer Institute in Boston and Memorial Sloan-Kettering Cancer Center in New York City.

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Gene signature predicts prostate cancer survival

WASHINGTON (AP) - Too often, newborns die of genetic diseases before doctors even know what is to blame. Now scientists have found a way to decode those babies' DNA in just days instead of weeks, moving gene-mapping closer to routine medical care.

The idea: Combine faster gene-analyzing machinery with new computer software that, at the push of a few buttons, uses a baby's symptoms to zero in on the most suspicious mutations. The hope would be to start treatment earlier, or avoid futile care for lethal illnesses.

Wednesday's study is a tentative first step: Researchers at Children's Mercy Hospital in Kansas City, Missouri, mapped the DNA of just five children, and the study wasn't done in time to help most of them.

But the hospital finds the results promising enough that by year's end, it plans to begin routine gene-mapping in its neonatal intensive care unit - and may offer testing for babies elsewhere, too - while further studies continue, said Dr. Stephen Kingsmore, director of the pediatric genome center at Children's Mercy.

``For the first time, we can actually deliver genome information in time to make a difference," predicted Kingsmore, whose team reported the method in the journal Science Translational Medicine. Even if the diagnosis is a lethal disease, ``the family will at least have an answer. They won't have false hope," he added.

More than 20 percent of infant deaths are due to a birth defect or genetic diseases, the kind caused by a problem with a single gene. While there are thousands of such diseases - from Tay-Sachs to the lesser known Pompe disease, standard newborn screening tests detect only a few of them. And once a baby shows symptoms, fast diagnosis becomes crucial.

Sequencing whole genomes - all of a person's DNA - can help when it is not clear what gene to suspect. But so far it has been used mainly for research, in part because it takes four to six weeks to complete and is very expensive.

Wednesday, researchers reported that the new process for whole-genome sequencing can take just 50 hours, half that time to perform the decoding from a drop of the baby's blood, and the rest to analyze which of the DNA variations uncovered can explain the child's condition.

That's an estimate: The study counted only the time the blood was being decoded or analyzed, not the days needed to ship the blood to Essex, England, home of a speedy new DNA decoding machine made by Illumina, Inc., or to ship back the results for Children's Mercy's computer program to analyze. Kingsmore said the hospital is awaiting arrival of its own decoder, when 50 hours should become the true start-to-finish time.

Specialists not involved with the study said it signals the long-promised usefulness of gene-mapping to real-world medicine finally is close. ``Genomic sequencing like this is very practical and very real now," said Dr. Arthur Beaudet of the Baylor College of Medicine, which also is working to expand genomic testing in children. ``Fast forward a year, and I think this kind of thing will probably be pretty routine."

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Test Spots Newborn Gene Disease

Public release date: 10-Oct-2012 [ | E-mail | Share ]

Contact: Mount Sinai Press Office newsmedia@mssm.edu 212-241-9200 The Mount Sinai Hospital / Mount Sinai School of Medicine

Researchers from Mount Sinai School of Medicine have identified a six-gene signature that can be used in a test to predict survival in men with aggressive prostate cancer, according to new research published in the October issue of The Lancet Oncology. This is the first study to demonstrate how prognostic markers may be useful in a clinical setting.

Using blood from 202 men with treatment-resistant prostate cancer, researchers found six genes characteristic of treatment-resistant prostate cancer. Men with the six-gene signature were high-risk, with a survival time of 7.8 months, and men without it were low-risk, with a survival time of approximately 34.9 months. A replication study of 140 additional patients validated these findings. William K. Oh, MD, Chief of the Division of Hematology and Medical Oncology of The Tisch Cancer Institute at The Mount Sinai Medical Center, led the research team.

"There is an urgent need for predictive models that help assess how aggressive the disease is in prostate cancer patients, as survival can vary greatly," said Dr. Oh. "Our six-gene model, delivered in a simple blood test, will allow clinicians to better determine the course of action for their patients, determine clinical trial eligibility, and lead to more targeted studies in late-stage disease."

Until now, disease prognosis in advanced prostate cancer could only be determined through clinical predictors or, occasionally, tumor biopsies with only moderately predictive results. This study shows the efficacy of the six-gene model blood test in determining length of survival.

"The genes noted in the model suggest possible changes in the immune system related to late-stage disease that warrant further study as a target for immune-based therapies," said Dr. Oh.

Dr. Oh's team is conducting additional studies exploring the feasibility of the six-gene signature in other types of prostate cancer, the stability of the signature during the course of a patient's illness, and the predictive ability of this signature in patients with prostate cancer treated with immune-based therapies.

###

This work was done in collaboration with colleagues at Dana-Farber Cancer Institute in Boston and Memorial Sloan-Kettering Cancer Center in New York City.

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Mount Sinai researchers discover gene signature that predicts prostate cancer survival

Featured Article Academic Journal Main Category: Psychology / Psychiatry Also Included In: Obesity / Weight Loss / Fitness;Anxiety / Stress;Genetics Article Date: 09 Oct 2012 - 14:00 PDT

Current ratings for: Rare Gene Deletion Tied To Psychiatric Disease And Obesity

5 (1 votes)

In their paper, Carl Ernst, a professor in the Department of Psychiatry at the Faculty of Medicine of McGill University in Montreal, Quebec, Canada, and colleagues, suggest deletion of BDNF, a nervous system growth factor that is important for brain development, leads to major depression, anxiety and obesity.

They are confident they have found a molecular pathway that plays a key role in psychopathology.

Ernst, who is also a researcher at the Douglas Mental Health University Institute (affiliated to McGill), says scientists have been scouring the genome to find regions in our DNA that may tell us something about the genetic origins of psychiatric disorders.

For some time, thanks to animal studies, it has been proposed that BDNF plays several roles in the brain, but no study has yet shown what happens when it is missing from the genome.

In this study, the participants were 35,000 people referred for genetic screening, and over 30,000 controls, in Canada, Europe and the US.

From the genetic screening, five people (including three children) tested positive for BDNF deletions. All five were obese and had mild to moderate intellectual impairment, plus a mood disorder, which in the children comprised anxiety disorder, aggressive disorder, or attention deficit-hyperactivity disorder (ADHD), and in the older subjects comprised anxiety or major depressive disorder.

As they got older, these subject gradually put on weight, which the researchers suggest means obesity happens slowly when it is due to BDNF deletion.

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Rare Gene Deletion Tied To Psychiatric Disease And Obesity

Too often, newborns die of genetic diseases before doctors even know what's to blame. Now scientists have found a way to decode those babies' DNA in just days instead of weeks, moving gene-mapping closer to routine medical care.

The idea: Combine faster gene-analyzing machinery with new computer software that, at the push of a few buttons, uses a baby's symptoms to zero in on the most suspicious mutations. The hope would be to start treatment earlier, or avoid futile care for lethal illnesses.

Wednesday's study is a tentative first step: Researchers at Children's Mercy Hospital in Kansas City, Mo., mapped the DNA of just five children, and the study wasn't done in time to help most of them.

But the hospital finds the results promising enough that by year's end, it plans to begin routine gene-mapping in its neonatal intensive care unit and may offer testing for babies elsewhere, too while further studies continue, said Dr. Stephen Kingsmore, director of the pediatric genome center at Children's Mercy.

Even if the diagnosis is a lethal disease, "the family will at least have an answer. They won't have false hope," said Kingsmore, who team reported the method in the journal Science Translational Medicine.

More than 20 per cent of infant deaths are due to a birth defect or genetic diseases, the kind caused by a problem with a single gene. While there are thousands of such diseases from Tay-Sachs to the lesser known Pompe disease, standard newborn screening tests detect only a few of them. And once a baby shows symptoms, fast diagnosis becomes crucial.

Sequencing whole genomes all of a person's DNA can help when it's not clear what gene to suspect. But so far it has been used mainly for research, in part because it takes four to six weeks to complete and is very expensive.

Wednesday, researchers reported that the new process for whole-genome sequencing can take just 50 hours half that time to perform the decoding from a drop of the baby's blood, and the rest to analyze which of the DNA variations uncovered can explain the child's condition.

That's an estimate: The study counted only the time the blood was being decoded or analyzed, not the days needed to ship the blood to Essex, England, home of a speedy new DNA decoding machine made by Illumina, Inc. or to ship back the results for Children's Mercy's computer program to analyze. Kingsmore said the hospital is awaiting arrival of its own decoder, when 50 hours should become the true start-to-finish time.

Specialists not involved with the study said it signals the long-promised usefulness of gene-mapping to real-world medicine finally is close.

Excerpt from:
Gene diseases in newborns spotted with 2-day test

WASHINGTON (AP) -

Too often, newborns die of genetic diseases before doctors even know what's to blame. Now scientists have found a way to decode those babies' DNA in just days instead of weeks, moving gene-mapping closer to routine medical care.

The idea: Combine faster gene-analyzing machinery with new computer software that, at the push of a few buttons, uses a baby's symptoms to zero in on the most suspicious mutations. The hope would be to start treatment earlier, or avoid futile care for lethal illnesses.

Wednesday's study is a tentative first step: Researchers at Children's Mercy Hospital in Kansas City, Mo., mapped the DNA of just five children, and the study wasn't done in time to help most of them.

But the hospital finds the results promising enough that by year's end, it plans to begin routine gene-mapping in its neonatal intensive care unit - and may offer testing for babies elsewhere, too - while further studies continue, said Dr. Stephen Kingsmore, director of the pediatric genome center at Children's Mercy.

"For the first time, we can actually deliver genome information in time to make a difference," predicted Kingsmore, whose team reported the method in the journal Science Translational Medicine.

Even if the diagnosis is a lethal disease, "the family will at least have an answer. They won't have false hope," he added.

More than 20% of infant deaths are due to a birth defect or genetic diseases, the kind caused by a problem with a single gene. While there are thousands of such diseases - from Tay-Sachs to the lesser known Pompe disease, standard newborn screening tests detect only a few of them. And once a baby shows symptoms, fast diagnosis becomes crucial.

Sequencing whole genomes - all of a person's DNA - can help when it's not clear what gene to suspect. But so far it has been used mainly for research, in part because it takes four to six weeks to complete and is very expensive.

Wednesday, researchers reported that the new process for whole-genome sequencing can take just 50 hours - half that time to perform the decoding from a drop of the baby's blood, and the rest to analyze which of the DNA variations uncovered can explain the child's condition.

See the rest here:
2-day test can spot gene diseases in newborns

WASHINGTONToo often, newborns die of genetic diseases before doctors even know what's to blame. Now scientists have found a way to decode those babies' DNA in just days instead of weeks, moving gene-mapping closer to routine medical care.

The idea: Combine faster gene-analyzing machinery with new computer software that, at the push of a few buttons, uses a baby's symptoms to zero in on the most suspicious mutations. The hope would be to start treatment earlier, or avoid futile care for lethal illnesses.

Wednesday's study is a tentative first step: Researchers at Children's Mercy Hospital in Kansas City, Mo., mapped the DNA of just five children, and the study wasn't done in time to help most of them.

But the hospital finds the results promising enough that by year's end, it plans to begin routine gene-mapping in its neonatal intensive care unit -- and may offer testing for babies elsewhere, too -- while further studies continue, said Dr. Stephen Kingsmore, director of the pediatric genome center at Children's Mercy.

"For the first time, we can actually deliver genome information in time to make a difference," predicted Kingsmore, whose team reported the method in the journal Science Translational Medicine.

Even if the diagnosis is a lethal disease, "the family will at least have an answer. They won't have false hope," he added.

More than 20 percent of infant deaths are due to a birth defect or genetic diseases, the kind caused by a problem with a single gene. While there are thousands of such diseases -- from Tay-Sachs to the lesser known Pompe disease, standard newborn screening tests detect only a few of them. And once a baby shows symptoms, fast diagnosis becomes crucial.

Sequencing whole genomes - all of a person's DNA - can help when it's not clear what gene to suspect. But so far it has been used mainly for research, in part because it takes four to six weeks to complete and is very expensive.

Wednesday, researchers reported that the new process for whole-genome sequencing can take just 50 hours -- half that time to perform the decoding from a drop of the baby's blood, and the rest to analyze which of the DNA variations uncovered can explain the child's condition.

That's an estimate: The study counted only the time the blood was being decoded or analyzed, not the days needed to ship the blood to Essex, England, home of a speedy new DNA decoding machine made by Illumina, Inc. -- or to ship back the results for Children's Mercy's computer program to analyze. Kingsmore said the hospital is awaiting arrival of its own decoder, when 50 hours should become the true start-to-finish time.

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Rapid gene-mapping test may diagnose disease in newborns

October 4, 2012 in Nation/World

Lauran Neergaard Associated Press

WASHINGTON Too often, newborns die of genetic diseases before doctors even know whats to blame. Now scientists have found a way to decode those babies DNA in just days instead of weeks, moving gene-mapping closer to routine medicalcare.

The idea: Combine faster gene-analyzing machinery with new computer software that, at the push of a few buttons, uses a babys symptoms to zero in on the most suspicious mutations. The hope would be to start treatment earlier, or avoid futile care for lethalillnesses.

Wednesdays study is a tentative first step: Researchers at Childrens Mercy Hospital in Kansas City, Mo., mapped the DNA of just five children, and the study wasnt done in time to help most ofthem.

But the hospital finds the results promising enough that by years end, it plans to begin routine gene-mapping in its neonatal intensive care unit and may offer testing for babies elsewhere, too while further studies continue, said Dr. Stephen Kingsmore, director of the pediatric genome center at ChildrensMercy.

For the first time, we can actually deliver genome information in time to make a difference, predicted Kingsmore, whose team reported the method in the journal Science TranslationalMedicine.

Even if the diagnosis is a lethal disease, the family will at least have an answer. They wont have false hope, headded.

More than 20 percent of infant deaths are due to a birth defect or genetic diseases, the kind caused by a problem with a single gene. While there are thousands of such diseases from Tay-Sachs to the lesser known Pompe disease, standard newborn screening tests detect only a few of them. And once a baby shows symptoms, fast diagnosis becomescrucial.

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Quicker gene test may help babies - Thu, 04 Oct 2012 PST

WASHINGTON (AP) -- Too often, newborns die of genetic diseases before doctors even know what's to blame. Now scientists have found a way to decode those babies' DNA in just days instead of weeks, moving gene-mapping closer to routine medical care.

The idea: Combine faster gene-analyzing machinery with new computer software that, at the push of a few buttons, uses a baby's symptoms to zero in on the most suspicious mutations. The hope would be to start treatment earlier, or avoid futile care for lethal illnesses.

Wednesday's study is a tentative first step: Researchers at Children's Mercy Hospital in Kansas City, Mo., mapped the DNA of just five children, and the study wasn't done in time to help most of them.

But the hospital finds the results promising enough that by year's end, it plans to begin routine gene-mapping in its neonatal intensive care unit -- and may offer testing for babies elsewhere, too -- while further studies continue, said Dr. Stephen Kingsmore, director of the pediatric genome center at Children's Mercy.

"For the first time, we can actually deliver genome information in time to make a difference," predicted Kingsmore, whose team reported the method in the journal Science Translational Medicine.

Even if the diagnosis is a lethal disease, "the family will at least have an answer. They won't have false hope," he added.

More than 20 percent of infant deaths are due to a birth defect or genetic diseases, the kind caused by a problem

Sequencing whole genomes -- all of a person's DNA -- can help when it's not clear what gene to suspect. But so far it has been used mainly for research, in part because it takes four to six weeks to complete and is very expensive.

On Wednesday, researchers reported that the new process for whole-genome sequencing can take just 50 hours -- half that time to perform the decoding from a drop of the baby's blood, and the rest to analyze which of the DNA variations uncovered can explain the child's condition.

That's an estimate: The study counted only the time the blood was being decoded or analyzed, not the days needed to ship the blood to Essex, England, home of a speedy new DNA decoding machine made by Illumina, Inc. -- or to ship back the results for Children's Mercy's computer program to analyze. Kingsmore said the hospital is awaiting arrival of its own decoder, when 50 hours should become the true start-to-finish time.

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Gene diseases in newborns unveiled quicker

MONDAY, Oct. 1 (HealthDay News) -- Researchers who have identified a genetic mutation that causes deafness say that the findings could one day lead to the development of new treatments for those at risk for a certain type of hearing loss.

In their new study, scientists at the University of Cincinnati and Cincinnati Children's Hospital Medical Center reported that the gene is associated with hearing loss stemming from Usher syndrome type 1, a condition that also causes night-blindness and a loss of peripheral vision due to retinal degeneration, as well as some cases of hearing loss not associated with the syndrome ("non-syndromic deafness").

"In this study, researchers were able to pinpoint the gene which caused deafness in Usher syndrome type 1 as well as deafness that is not associated with the syndrome through the genetic analysis of 57 humans from Pakistan and Turkey," lead investigator Zubair Ahmed, an assistant professor of ophthalmology who conducts research at Cincinnati Children's, said in a university news release.

Ahmed explained that deafness in Usher syndrome type 1 and non-syndromic hearing loss has been linked with mutations affecting a protein, known as CIB2, which attaches to calcium inside a cell. "To date, mutations affecting CIB2 are the most common and prevalent genetic cause of non-syndromic hearing loss in Pakistan," Ahmed said. "However, we have also found another mutation of the protein that contributes to deafness in Turkish populations."

In animal studies, CIB2 has been found in the hair cells of the inner ear that respond to fluid motion and allow hearing and balance. CIB2 is also found in retinal photoreceptor cells, making vision possible, the researchers noted in the news release.

The new findings provide more insight into mechano-electrical transduction, or the process that enables the ear to convert mechanical energy -- or energy of motion -- into something the brain can recognize as sound, the researchers pointed out.

"With this knowledge, we are one step closer to understanding the mechanism of mechano-electrical transduction and possibly finding a genetic target to prevent non-syndromic deafness as well as that associated with Usher syndrome type 1," Ahmed concluded in the news release.

The study, which also involved researchers from the U.S. National Institute on Deafness and other Communication Disorders (NIDCD), Baylor College of Medicine and the University of Kentucky, was published in the Sept. 30 online edition of Nature Genetics.

It's estimated that 3 to 6 percent of deaf children and 3 to 6 percent of children who are hard-of-hearing have Usher syndrome. In the United States, roughly four out of every 100,000 babies have the syndrome.

-- Mary Elizabeth Dallas

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Researchers Discover Gene Defect Linked to Deafness