Welcome to the Genetic Code: An Overview of Basic Genetics

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Genetic Gamble: Drugs aim to make different types of cancer self-destruction

Click Here! Great uncertainties remain, but such drugs could mean new treatments for rare cancers, neglected, as well as those municipalities. Merck, Roche and Sanofi are racing to develop their own versions of a drug they hope to restore a mechanism that normally makes it severely damaged the cells self-destruct and could potentially be used against half of all cancers.

--> No pharmaceutical company has ever conducted a clinical trial of a drug in patients who have many different types of cancer, researchers and federal regulators say. "This is a taste of the future in the development of cancer drugs," said Dr. Otis Brawley Webb, medical and Scientific Director of the American Cancer Society. "We expect the organ from which cancer will be less important in the future and the most important molecular target," he added.
And this has important implications for Philanthropy, cancer experts say. Support groups should move from fund-raising for cancers in particular to push for research aimed at many cancers at once, said Dr. Brawley. John Walter, chief executive officer of the leukemia and Lymphoma Society, agreed, saying that by pooling forces "our strength can be leveraged." At the heart of this search for new cancer drugs are patients like Joe Bellino, who was an employee of the post office until his cancer made him too ill to work. Seven years ago, he went to the hospital for a hernia surgery, only to learn that he had a rare cancer, liposarcoma of the adipose cells. A large tumor was wrapped around a wire that connects the testicle in the abdomen. "I was shocked," he said in an interview this summer.
Companies have long ignored liposarcoma, not seeing no market for drugs to treat a cancer that affects so few. But it's ideal for drug testing of Sanofi, because the tumors are almost always the exact genetic drugs problem was to attack — a merger of two large proteins. If the drug works, it should bring these tumors raging a setback. Then Sanofi would you test the drug on a wide range of cancers with a similar genetic alteration. But if the drug fails against liposarcoma, Sanofi grudgingly admit defeat. "For us, this is a go/no-go," said Laurent Debussche, a scientist from Sanofi leads drug company seeks.
The genetic alteration of drug targets has tantalized scientists for decades. Normal healthy cells have a mechanism that tells them to die if their DNA is damaged too badly for repair. Cancer cells grotesquely damaged DNA, so ordinarily you would self-destruct. A protein known as p53 that Dr. Gary Gilliland of Merck called Angel of death cell normally sets things in motion. But cancer cells deactivate p53, or directly with a mutation, or indirectly, by attaching the p53 protein to another cellular protein that blocks. The dream of cancer researchers has long been to revive p53 in cancer cells that die on their own. P53 's story began in earnest about 20 years ago. Excitement ran so high that, in 1993, Science magazine has anointed the molecule of the year and put him on the cover. An editorial gave the possibility of a cure for a dreaded killer in the not too distant future ".
Companies began hunting for a drug to restore p53 in cells where it has been disabled by mutations. But while scientists know how to block genes, they haven't figured out how to add or restore them. Researchers have tried gene therapy, adding good copies of the p53 gene in cancer cells. That did not work. Then, instead of going after the mutated p53 genes, they went after half the cancers that used the alternative route to disable p53 by blocking linking it to a known protein like MDM2. When they stick together the two proteins, the protein p53 doesn't work anymore. Maybe, the researchers thought they might find a wedge between the two myself proteins and raise their share.
The problem was that both proteins are enormous and cling tightly to each other. Drug molecules are generally very small. How could find one that would separate these two bruisers, like a referee in a boxing match? In 1996, researchers at Roche has noticed a small pocket between the colossi where a small molecule could slip and pry them apart. It took six years, but Roche found such a molecule and named Nutlin because the lab was in Nutley, NJ
But Nutlins didn't work as drugs because they were not absorbed into the body. Roche, Merck and Sanofi persevered, testing thousands of molecules.
At Sanofi, the stubborn avant-garde scientist, Dr. Debussche, maintained an obsession with p53 for two decades. Finally, in 2009, his team, along with Shaomeng Wang at the University of Michigan and a biotech company, Ascenta Therapeutics, found a promising compound. The company tested the drug every day pumping in the stomachs of mice with sarcoma.e

Scientists Map Genetic 'Blueprint' of Heart

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THURSDAY, Sept. 13 (HealthDay News) -- Researchers have identified the genetic "blueprint" for how a heart becomes a heart -- a sort of instruction manual for building a fully functioning heart from embryonic stem cells.

The scientists reprogrammed embryonic stem cells from mice into beating heart cells. Then they removed and analyzed DNA from developing and mature heart cells to determine which aspects of heart formation they encoded, using large amounts of computing tools and gene-sequencing data to do so.

The findings provide clues into the genetic basis for some forms of congenital heart disease, say the Gladstone Institutes scientists, and could lead to new treatments for life-threatening birth defects such as arrhythmias -- irregular heart beat -- and ventricular septal defects, or "holes" in the heart.

"Congenital heart defects are the most common type of birth defects -- affecting more than 35,000 newborn babies in the United States each year," Benoit Bruneau, associate director of cardiovascular research at Gladstone, said in an institute news release. "But how these defects develop at the genetic level has been difficult to pinpoint because research has focused on a small set of genes. Here, we approach heart formation with a wide-angle lens by looking at the entirety of the genetic material that gives heart cells their unique identity."

"Our findings reveal new clues as to how complex genetic and epigenetic patterns are precisely regulated during heart formation," study collaborator Laurie Boyer, from the Massachusetts Institute of Technology, said in the news release. "In particular, our identification of key segments of the genome that contribute to this process will hopefully allow us to identify the genetic causes of many forms of congenital heart disease -- an important first step in the fight against this devastating disease."

The researchers found that groups of genes work together in heart cells, switching on and off simultaneously at certain times during development. They also identified new genes involved in heart formation and figured out how they interact with previously known genes.

"Next, we hope to examine the DNA of patients living with congenital heart disease, in the hopes that we can pinpoint the specific genetic disruption that caused their heart defect," said Bruneau, who is also a professor of pediatrics at the University of California, San Francisco. "Once we identify that disruption, we can begin exploring ways to restore normal gene function during early heart formation and reduce the number of babies born with debilitating, and sometimes fatal, congenital heart defects."

The study was published online Sept. 13 in the journal Cell.

-- Mary Elizabeth Dallas Copyright © 2012 HealthDay. All rights reserved. SOURCE: Gladstone Institutes, news release, Sept. 2012

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21 genetic Conditions that must be reported by patients if incidentally found throughout the genome sequencing

Illustration: DNA associated histones to form chromatin. Image source: Wikipedia.

There are no established guidelines on which genetic variants should be presented to the doctors as incidental findings from the whole genome sequencing. A recent study has shown that genetic specialists agreed that disease-causing mutations to genetic conditions 21 should be reported by patients.

For adult patients

APC-associated polyposis
Fabry disease
Familial Hypercholesterolemia
Galactosemia
Gaucher disease
Glycogen storage disease type IA
Hereditary Breast and ovarian cancer
Homocystinuria
Li-Fraumeni syndrome
Lynch syndrome
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 2
MYH-associated polyposis
Phenylketonuria
Disease of pompe
PTEN Hamartoma tumor syndrome
Retinoblastoma
Romano-Ward (long QT syndrome)
Tyrosinemia type 1
Von Hippel-Lindau disease
Wilson's disease

For pediatric patients (child)

PTEN Hamartoma tumor syndrome
Retinoblastoma
Romano-Ward (long QT syndrome)
Von Hippel-Lindau disease

Family history collection predicts cancer risk better than 23andMe genetic testing, according to a recent study by the Cleveland Clinic:

References

Concordance and discordance exploration for return of accidental discoveries to clinical sequencing. Green RC, JS, Berry, Biesecker LG GT Dimmock DP, Evans, JP, WW, MR. Grody, Kalia S Hegde, BR, Korf Krantz I, AL McGuire, Miller, DT, Murray MF, Nussbaum RL, Plon IF Rehm HL, Jacob HJ. Genet med. Apr 2012; 4: 405-10. DOI: 10.1038/2012.21. gim. Epub 15 Mar 2012.

Genome sequencing to add new twist to doctor-patient discussions. The American Medical Association, 2012.

How to talk to patients http://goo.gl/kkW4m genetic testing

 

21 genetic Conditions that must be reported by patients if incidentally found throughout the genome sequencing

Illustration: DNA associated histones to form chromatin. Image source: Wikipedia.

There are no established guidelines on which genetic variants should be presented to the doctors as incidental findings from the whole genome sequencing. A recent study has shown that genetic specialists agreed that disease-causing mutations to genetic conditions 21 should be reported by patients.

For adult patients

APC-associated polyposis
Fabry disease
Familial Hypercholesterolemia
Galactosemia
Gaucher disease
Glycogen storage disease type IA
Hereditary Breast and ovarian cancer
Homocystinuria
Li-Fraumeni syndrome
Lynch syndrome
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 2
MYH-associated polyposis
Phenylketonuria
Disease of pompe
PTEN Hamartoma tumor syndrome
Retinoblastoma
Romano-Ward (long QT syndrome)
Tyrosinemia type 1
Von Hippel-Lindau disease
Wilson's disease

For pediatric patients (child)

PTEN Hamartoma tumor syndrome
Retinoblastoma
Romano-Ward (long QT syndrome)
Von Hippel-Lindau disease

Family history collection predicts cancer risk better than 23andMe genetic testing, according to a recent study by the Cleveland Clinic:

References

Concordance and discordance exploration for return of accidental discoveries to clinical sequencing. Green RC, JS, Berry, Biesecker LG GT Dimmock DP, Evans, JP, WW, MR. Grody, Kalia S Hegde, BR, Korf Krantz I, AL McGuire, Miller, DT, Murray MF, Nussbaum RL, Plon IF Rehm HL, Jacob HJ. Genet med. Apr 2012; 4: 405-10. DOI: 10.1038/2012.21. gim. Epub 15 Mar 2012.

Genome sequencing to add new twist to doctor-patient discussions. The American Medical Association, 2012.

How to talk to patients http://goo.gl/kkW4m genetic testing

 

21 genetic Conditions that must be reported by patients if incidentally found throughout the genome sequencing

Illustration: DNA associated histones to form chromatin. Image source: Wikipedia.

There are no established guidelines on which genetic variants should be presented to the doctors as incidental findings from the whole genome sequencing. A recent study has shown that genetic specialists agreed that disease-causing mutations to genetic conditions 21 should be reported by patients.

For adult patients

APC-associated polyposis
Fabry disease
Familial Hypercholesterolemia
Galactosemia
Gaucher disease
Glycogen storage disease type IA
Hereditary Breast and ovarian cancer
Homocystinuria
Li-Fraumeni syndrome
Lynch syndrome
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 2
MYH-associated polyposis
Phenylketonuria
Disease of pompe
PTEN Hamartoma tumor syndrome
Retinoblastoma
Romano-Ward (long QT syndrome)
Tyrosinemia type 1
Von Hippel-Lindau disease
Wilson's disease

For pediatric patients (child)

PTEN Hamartoma tumor syndrome
Retinoblastoma
Romano-Ward (long QT syndrome)
Von Hippel-Lindau disease

Family history collection predicts cancer risk better than 23andMe genetic testing, according to a recent study by the Cleveland Clinic:

References

Concordance and discordance exploration for return of accidental discoveries to clinical sequencing. Green RC, JS, Berry, Biesecker LG GT Dimmock DP, Evans, JP, WW, MR. Grody, Kalia S Hegde, BR, Korf Krantz I, AL McGuire, Miller, DT, Murray MF, Nussbaum RL, Plon IF Rehm HL, Jacob HJ. Genet med. Apr 2012; 4: 405-10. DOI: 10.1038/2012.21. gim. Epub 15 Mar 2012.

Genome sequencing to add new twist to doctor-patient discussions. The American Medical Association, 2012.

How to talk to patients http://goo.gl/kkW4m genetic testing