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Category Archives: DNA
DNA Genetic Testing & Analysis – 23andMe
Posted: May 17, 2017 at 1:26 am
What to know about: ARSACS and our test
ARSACS is a rare genetic disorder characterized by loss of sensation and muscle control, as well as muscle stiffness that worsens over time. A person must have two variants in the SACS gene in order to have this condition.
Typical signs and symptoms
When symptoms develop Symptoms typically develop during early childhood.
How it's treated: There is currently no known cure. Treatment focuses on managing symptoms and providing supportive care through speech, physical, and occupational therapy.
What do we test? 1 variant in the SACS gene. There are currently no professional guidelines in the U.S. for carrier testing for this condition.
Relevant ethnicities:
Test performance summary Accuracy was determined by comparing results from this test with results from sequencing for 67 samples with known variant status. 67 out of 67 genotype results were correct. About 1 in 5,200 samples may receive a Not Determined result. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
ACCPN is a rare genetic disorder. It is characterized by an incomplete connection between the two sides of the brain. This causes developmental disability, weakness, and loss of sensation. A person must have two variants in the SLC12A6 gene in order to have this condition.
Typical signs and symptoms
When symptoms develop Symptoms typically develop during infancy.
How it's treated: There is currently no known cure. Treatment focuses on physical and occupational therapy as well as other forms of supportive care as symptoms worsen, often into adulthood.
What do we test? 1 variant in the SLC12A6 gene. There are currently no professional guidelines in the U.S. for carrier testing for this condition.
Relevant ethnicities:
Test performance summary Accuracy was determined by comparing results from this test with results from sequencing for 47 samples with known variant status. 47 out of 47 genotype results were correct. Fewer than 1 in 100,000 samples may receive a Not Determined result. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
ARPKD is a rare genetic disorder. It is characterized by kidney, liver, and lung problems as well as urinary tract infections and high blood pressure. A person must have two variants in the PKHD1 gene in order to have this condition.
Typical signs and symptoms
When symptoms develop Symptoms typically develop before birth or during infancy.
How it's treated: There is currently no known cure. Treatment focuses on managing the symptoms of kidney, lung, and liver disease, as well as managing blood pressure.
What do we test? 3 variants in the PKHD1 gene. There are currently no professional guidelines in the U.S. for carrier testing for this condition.
Relevant ethnicities:
Test performance summary Accuracy was determined by comparing results from this test with results from sequencing for 149 samples with known variant status. 149 out of 149 genotype results were correct. About 1 in 35,000 samples may receive a Not Determined result for one or more variants included in this test. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
Beta thalassemia is a genetic disorder characterized by anemia and fatigue as well as bone deformities and organ problems. A person must have two variants in the HBB gene in order to have this condition.
Typical signs and symptoms
When symptoms develop Symptoms typically develop any time from late infancy (severe form) into adulthood (intermediate form).
How it's treated: Treatment focuses on managing symptoms and preventing complications. Some individuals may require frequent blood transfusions.
What do we test? 10 variants in the HBB gene. Carrier screening for beta thalassemia and related hemoglobinopathies is recommended by ACOG for people of African, Southeast Asian, and Mediterranean descent considering having children.
Relevant ethnicities:
Test performance summary Accuracy was determined by comparing results from this test with results from sequencing for 461 samples with known variant status. 461 out of 461 genotype results were correct. About 1 in 11,200 samples may receive a Not Determined result for one or more variants included in this test. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
Bloom syndrome is a rare genetic disorder characterized by impaired growth and increased risk of infections and cancer. A person must have two variants in the BLM gene in order to have this condition.
Typical signs and symptoms
When symptoms develop Symptoms typically develop during infancy.
How it's treated: There is currently no known cure. Treatment focuses on managing symptoms and preventing complications such as infection and cancer.
What do we test? 1 variant in the BLM gene. Carrier testing for Bloom syndrome is recommended by the American College of Medical Genetics (ACMG) for people of Ashkenazi Jewish descent considering having children. This test includes the variant recommended for testing by ACMG.
Relevant ethnicities:
Test performance summary Accuracy was determined by comparing results from this test with results from sequencing for 70 samples with known variant status. 70 out of 70 genotype results were correct. Fewer than 1 in 100,000 samples may receive a Not Determined result. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
Canavan disease is a rare genetic disorder characterized by a loss of nerve cell function in the brain that worsens over time. A person must have two variants in the ASPA gene in order to have this condition.
Typical signs and symptoms
When symptoms develop Symptoms typically develop during infancy.
How it's treated: There is currently no known cure. Treatment focuses on preventing complications by monitoring diet, treating infectious diseases, and managing seizures.
What do we test? 3 variants in the ASPA gene. Carrier testing for Canavan disease is recommended by ACMG for people of Ashkenazi Jewish descent considering having children. This test includes the two variants recommended for testing by ACMG.
Relevant ethnicities:
Test performance summary Accuracy was determined by comparing results from this test with results from sequencing for 212 samples with known variant status. 212 out of 212 genotype results were correct.
PMM2-CDG is a rare genetic disorder that affects the nervous system and other parts of the body. It is characterized by developmental delay, muscle weakness, and failure to gain weight. A person must have two variants in the PMM2 gene in order to have this condition.
Typical signs and symptoms
When symptoms develop Symptoms typically develop in infancy.
How it's treated: There is currently no known cure. Treatment focuses on nutritional, occupational, speech, and physical therapy.
What do we test? 2 variants in the PMM2 gene. There are currently no professional guidelines in the U.S. for carrier testing for this condition.
Relevant ethnicities:
Test performance summary Accuracy was determined by comparing results from this test with results from sequencing for 100 samples with known variant status. 100 out of 100 genotype results were correct. Fewer than 1 in 100,000 samples may receive a Not Determined result for one or more variants included in this test. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
Cystic fibrosis is a rare genetic disorder characterized by impaired lung and digestive function. A person must have two variants in the CFTR gene in order to have this condition.
Typical signs and symptoms
When symptoms develop Symptoms typically develop during infancy.
How it's treated: There is currently no known cure. Treatment focuses on managing symptoms and preventing complications such as lung infections and malnutrition.
What do we test? 28 variants in the CFTR gene. The American College of Medical Genetics (ACMG) recommends carrier testing for cystic fibrosis for people of all ethnicities considering having children. This test includes 21 of the 23 variants recommended for testing by ACMG.
Relevant ethnicities:
Test performance summary Accuracy was determined by comparing results from this test with results from sequencing for 1,514 samples with known variant status. 1,514 out of 1,514 genotype results were correct. About 1 in 610 samples may receive a Not Determined result for one or more variants included in this test. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
DBPD is a rare genetic disorder. It is characterized by abnormal muscle tone, developmental disability, seizures, and early death. A person must have two variants in the HSD17B4 gene in order to have this condition.
Typical signs and symptoms
When symptoms develop Symptoms typically develop at birth or during infancy.
How it's treated: There is currently no known cure. Treatment focuses on managing symptoms and preventing complications.
What do we test? 2 variants in the HSD17B4 gene. There are currently no professional guidelines in the U.S. for carrier testing for this condition.
Relevant ethnicities:
Test performance summary Accuracy was determined by comparing results from this test with results from sequencing for 97 samples with known variant status. 97 out of 97 genotype results were correct. Fewer than 1 in 100,000 samples may receive a Not Determined result for one or more variants included in this test. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
DLD deficiency is a rare genetic disorder. It is typically characterized by low muscle tone and episodes of brain injury accompanied by liver disease. A person must have two variants in the DLD gene in order to have this condition.
Typical signs and symptoms
When symptoms develop Symptoms can develop anytime from infancy to adulthood
How it's treated: There is currently no known cure. Treatment focuses on maintaining a stable metabolic state through diet. Blood tests can be used for routine monitoring and to guide dietary recommendations.
What do we test? 1 variant in the DLD gene. There are currently no professional guidelines in the U.S. for carrier testing for this condition.
Relevant ethnicities:
Test performance summary Accuracy was determined by comparing results from this test with results from sequencing for 50 samples with known variant status. 50 out of 50 genotype results were correct. Fewer than 1 in 100,000 samples may receive a Not Determined result. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
Familial dysautonomia is a rare genetic disorder that affects many different parts of the body. It is characterized by severe dysfunction in different parts of the nervous system involved in movement, the senses, and involuntary (autonomic) functions. A person must have two variants in the IKBKAP gene in order to have this condition.
Typical signs and symptoms
When symptoms develop Symptoms are typically present at birth.
How it's treated: There is currently no known cure. Treatment focuses on managing nerve dysfunction by providing medications and supportive care.
What do we test? 1 variant in the IKBKAP gene. Carrier testing for familial dysautonomia is recommended by the American College of Medical Genetics (ACMG) for people of Ashkenazi Jewish descent considering having children. This test includes one of two variants recommended for testing by ACMG.
Relevant ethnicities:
Test performance summary Accuracy was determined by comparing results from this test with results from sequencing for 59 samples with known variant status. 59 out of 59 genotype results were correct. Fewer than 1 in 100,000 samples may receive a Not Determined result. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
Fanconi anemia group C is a rare genetic disorder. It is characterized by a decreased production of blood cells, birth defects, and an increased risk of infections and cancer. A person must have two variants in the FANCC gene in order to have this condition.
Typical signs and symptoms
When symptoms develop Symptoms can develop anytime from birth to adulthood.
How it's treated: There is currently no known cure. Treatment focuses on increasing the number of blood cells, managing disabilities, and screening for cancer. Stem cell transplants may correct blood cell problems in some cases.
What do we test? 3 variants in the FANCC gene. Carrier testing for Fanconi anemia group C is recommended by the American College of Medical Genetics (ACMG) for people of Ashkenazi Jewish descent considering having children. This test includes the one variant recommended for testing by ACMG.
Relevant ethnicities:
Test performance summary Accuracy was determined by comparing results from this test with results from sequencing for 145 samples with known variant status. 145 out of 145 genotype results were correct. About 1 in 43,000 samples may receive a Not Determined result for one or more variants included in this test. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
GRACILE syndrome is a rare genetic disorder. It is characterized by impaired growth before birth, iron buildup, liver damage, and death in infancy. A person must have two variants in the BCS1L gene in order to have this condition.
Typical signs and symptoms
When symptoms develop Symptoms typically develop before birth.
How it's treated: There is currently no known cure. Treatment focuses on managing symptoms and ultimately providing end-of-life supportive care.
What do we test? 1 variant in the BCS1L gene. There are currently no professional guidelines in the U.S. for carrier testing for this condition.
Relevant ethnicities:
Test performance summary Accuracy was determined by comparing results from this test with results from sequencing for 46 samples with known variant status. 46 out of 46 genotype results were correct. Fewer than 1 in 100,000 samples may receive a Not Determined result. This can be caused by random test error or unexpected DNA sequences that interfere with the test. It can also be caused by having two copies of a variant tested.
Gaucher disease type 1 is a rare genetic disorder that can affect many organs. It often leads to an enlarged liver and spleen, as well as bone abnormalities. A person must have two variants in the GBA gene, or two copies of a variant, in order to have Gaucher disease type 1.
Typical signs and symptoms
When symptoms develop Symptoms can develop anytime from childhood to adulthood and can vary from mild to severe. Some people may never develop symptoms.
How it's treated: There is currently no known cure. Treatment varies depending on the severity of symptoms, but often includes enzyme replacement therapy.
What do we test? 3 variants in the GBA gene. Carrier testing for Gaucher disease type 1 is recommended by the American College of Medical Genetics (ACMG) for people of Ashkenazi Jewish descent considering having children. This test includes two of four variants recommended for testing by ACMG.
Relevant ethnicities:
Test performance summary Accuracy was determined by comparing results from this test with results from sequencing for 438 samples with known variant status. 437 out of 438 genotype results were correct. The performance of this test may be affected by the presence of rare mutations, such as c.1265_1319del55.
GSDIa is a rare genetic disorder. It is characterized by low blood sugar, liver and kidney problems, and poor growth. A person must have two variants in the G6PC gene in order to have this condition.
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DNA Genetic Testing & Analysis - 23andMe
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A-DNA – Wikipedia
Posted: at 1:26 am
A-DNA is one of the possible double helical structures which DNA can adopt. A-DNA is thought to be one of three biologically active double helical structures along with B-DNA and Z-DNA. It is a right-handed double helix fairly similar to the more common B-DNA form, but with a shorter, more compact helical structure whose base pairs are not perpendicular to the helix-axis as in B-DNA. It was discovered by Rosalind Franklin, who also named the A and B forms. She showed that DNA is driven into the A form when under dehydrating conditions. Such conditions are commonly used to form crystals, and many DNA crystal structures are in the A form. The same helical conformation occurs in double-stranded RNAs, and in DNA-RNA hybrid double helices.
A-DNA is fairly similar to B-DNA given that it is a right-handed double helix with major and minor grooves. However, as shown in the comparison table below, there is a slight increase in the number of base pairs (bp) per turn (resulting in a smaller twist angle), and smaller rise per base pair (making A-DNA 20-25% shorter than B-DNA). The major groove of A-DNA is deep and narrow, while the minor groove is wide and shallow.
Dehydration of DNA drives it into the A form, and this apparently protects DNA under conditions such as the extreme desiccation of bacteria.[1] Protein binding can also strip solvent off of DNA and convert it to the A form, as revealed by the structure of a rod-shaped virus.[2]
It has been proposed that the motors that package double-stranded DNA in bacteriophages exploit the fact that A-DNA is shorter than B-DNA, and that conformational changes in the DNA itself are the source of the large forces generated by these motors.[3] In this model, ATP hydrolysis is used to drive protein conformational changes that alternatively dehydrate and rehydrate the DNA, and the DNA shortening/lengthening cycle is coupled to a protein-DNA grip/release cycle to generate the forward motion that moves DNA into the capsid.
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DNA convicts man of rape he committed 20 years ago – New York Post
Posted: at 1:26 am
A Brooklyn man was convicted Tuesday of a nearly 20-year old rape he committed on a Park Slope subway platform.
DNA from cold case files helped prosecutors convict Johnny Jacob in the 1998 assault on a 19-year-old woman as she headed out for her first day of work.
Thanks to the DNA evidence collected at the time of this attack the defendant has now been held accountable for this brutal rape, acting District Attorney Eric Gonzalez said. This case once again underscores the importance of DNA evidence in proving guilt or innocence.
Gonzalez also lauded the victims bravery in coming forward to testify against her assailant.
Jacob approached her at 9:30 a.m. on March 2, 1998, as she exited the Fourth Ave subway stop at Ninth street. The fiend ordered her back on the platform, threatening to shoot her, as he held what she thought was a gun to her back. He then raped her.
The 45-year-old Jacob was nabbed in 2013, after he was convicted of federal money laundering charges and forced to submit DNA to the federal database.
His genetic material later came back matching that found at the rape scene.
Jacob faces 25 years behind bars when hes sentenced in June.
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DNA convicts man of rape he committed 20 years ago - New York Post
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Can DNA Evidence Be Too Convincing? An Acquitted Man Thinks So – New York Times
Posted: at 1:26 am
New York Times | Can DNA Evidence Be Too Convincing? An Acquitted Man Thinks So New York Times The prosecutor cited the DNA evidence, and said that Mr. Waldon had told the police and prosecutors that Mr. Gills was responsible for the second robbery, adding that the two hung out at the same house and had used the same clothing. Mr. Waldon ... |
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Can DNA Evidence Be Too Convincing? An Acquitted Man Thinks So - New York Times
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Cedar Rapids police use DNA technology to create suspect composite in Michelle Martinko killing – The Gazette: Eastern Iowa Breaking News and…
Posted: at 1:26 am
May 16, 2017 at 5:20 pm | Print View
CEDAR RAPIDS For the first time since Michelle Martinko was stabbed to death 37 years ago, her sister and brother-in-law can look the killer in his eyes.
Using the services of a Virginia-based company that uses DNA to predict the physical features and ancestry of a suspect, the Cedar Rapids Police Department has produced images of a man believed to have killed Martinko in Cedar Rapids on Dec. 19, 1979. Those images were shared with Martinkos sister and brother-in-law, Janelle and John Stonebraker, earlier this month and were shared with the public during a news conference on Tuesday at police headquarters.
Its very sobering and disturbing at the same time, John Stonebraker said, as he stood just feet away from the images. But, it is also hopeful.
Added Janelle Stonebraker, Its very personal. It brings it to a person.
Police said Martinko, 18, a Kennedy High School student, was found dead in her familys 1972 Buick Elantra outside Westdale Mall on Dec. 20, 1979, after being reported missing by her parents. Police said there was no sign of a sexual assault, but she had wounds that indicated she fought her attacker.
The case has gone unsolved, but has been far from forgotten, Cedar Rapids Police Chief Wayne Jerman said during Tuesdays news conference.
This police department does not give up on cases, Jerman said. They may go cold, but especially with the Michelle Martinko case, weve never forgotten about it.
In October 2006, police investigators announced they had developed the suspects DNA in the case. The DNA was uploaded to the national Combined DNA Index System, but it did not produce a match. Over the years, various other tips have come in, but produced no arrests in the case.
Investigator Matt Denlinger said investigators reached out to Parabon NanoLabs in September 2016 to use their Snapshot DNA Phenotyping service, which is used to create a suspect composite based on DNA traits. The service cost $5,000.
They give you predictions for skin color, eye color even freckling, Denlinger said. This is not an inexpensive process. We took this on because we thought we could accomplish something with it.
Dr. Ellen Greytak, of Parabon NanoLabs, said the composite is a likeness of a suspect, not a photograph of a person. She said the Snapshot service is especially useful in narrowing the suspect pool through exclusion.
What were doing is really narrowing it down, she said.
With the DNA obtained in the Martinko case, Parabon NanoLabs created a composite of a light-skinned man with blond hair and blue or green eyes. The images were also aged to visualize what the suspect might look like at age 50.
Cedar Rapids public safety spokesman Greg Buelow said police have used the composites to eliminate some potential suspects. They are now presenting the composites to the public in hopes of generating more leads.
Buelow also said the police department has received several inquiries from the public on how they can donate to a reward fund assigned to the Martinko case. He said tax-deductible donations can be sent to Linn County Crime Stoppers, c/o the Cedar Rapids Police Department, 505 First St. SW, Cedar Rapids, IA 52404. Those who write checks should put Martinko cold case in the memo section.
Linn County Crime Stoppers currently has a $5,000 reward, Buelow said, adding an anonymous donor is willing to contribute an additional $10,000 to the reward fund and is hoping the public will match that donation.
We owe it to the Martinko family and we owe it to Michelle that we find out who is responsible for her murder, Jerman said. This is a great shot for us to accomplish that ... I believe through this exposure, its going to give us that opportunity.
l Comments: (319) 398-8238; lee.hermiston@thegazette.com
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Cedar Rapids police use DNA technology to create suspect composite in Michelle Martinko killing - The Gazette: Eastern Iowa Breaking News and...
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Snail’s DNA secrets unlocked in fight against river disease – BBC News
Posted: at 1:26 am
BBC News | Snail's DNA secrets unlocked in fight against river disease BBC News Scientists have decoded the genome of a snail involved in the spread of a deadly parasitic disease. They say the information will help in the fight against schistosomiasis, an infection caused by a parasitic worm that lives in streams and ponds. The ... |
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Mary Rose ship crew ‘to be identified using DNA’ – BBC News
Posted: at 1:26 am
BBC News | Mary Rose ship crew 'to be identified using DNA' BBC News Scientists examining human remains from Henry VIII's flagship Mary Rose are hoping to reconstruct skeletons of some of its crew using DNA. Previous attempts to reform the bodies were based on "physical matching", including bone size, and not DNA. Scientists use DNA to recreate crew that died on Mary Rose | Daily ... |
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Can DNA Databases Reduce Crime Rates? – Forbes
Posted: at 1:26 am
Forbes | Can DNA Databases Reduce Crime Rates? Forbes My research shows that DNA databases have a big deterrent effect: In the United States, DNA profiling makes violent offenders 17% less likely to reoffend, and makes property offenders 6% less likely to reoffend. (I determine this by comparing ... |
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Brothers convicted of Cornwall murders pin freedom hopes on DNA – BBC News
Posted: at 1:26 am
BBC News | Brothers convicted of Cornwall murders pin freedom hopes on DNA BBC News Lawyers for two brothers convicted of murdering a Cornish couple believe DNA evidence could be used to clear them. Lee and Robert Firkins were found guilty in 2005 of murdering Graham and Carol Fisher at the couple's petrol station near Wadebridge. |
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Human DNA Will Be Synthesized Within 5 Years, Prominent Geneticist States – Big Think
Posted: May 14, 2017 at 5:24 pm
The Human Genome Project (HGP) was the most ambitious and sweeping scientific analysis of our DNA, ever. Just a reminder, a genome is a complete set of instructions or DNA, the blueprints for building an entire organism. The project brought countless findings, which are just beginning to shape medicine and society.
Yet, something else has become quite clear. Being able to read our DNA doesnt mean you know everything about it. To further develop understanding, a new program seeks to write whole genomes from scratch, including plant, microbe, animal, and even human DNA. But that last one is creating a firestorm of controversy over whether we should be doing it at all.
Today, we have the entire human genome laid out before us, around three billion base pairs total. These are adenine (A), cytosine (C), guanine (G), and thymine (T). When snapped together, they form the iconic double helix were all familiar with. The genome is so complex, theres a lot we just dont know or even understand about it. For instance, we still arent sure how these base pairs work alongside one another.
Wikipedia Commons.
So how can genetics move forward? You dont really understand something inside and out without taking it apart, putting it back together, and making it yourself. As the renowned physicist Richard Feynman once said, "What I cannot create, I do not understand?
Using the information locked in the nucleotides, the ultimate goal is to be able to manipulate our genome and those of other organisms, to suit human needs. These include curing disease, producing more and healthier food, and someday perhaps, enhancing the human body beyond its current capabilities. Going down this road raises all kinds of ethical questions, however.
Because of this, over 100 experts from all over the world met in secret last year at Harvard Medical School. Attendees were asked not to share what had taken place at the meeting. Some scientists snubbed the event, since the press wasnt invited, even though ultimately, reporters found out and it was plastered all over the internet. The point was to create what came to be known as, the Human Genome Project-Write (GP-Write).
Around 250 researchers met again in New York City on May 9-10 of this year. Event attendees discussed logistics, ethics, and applications surrounding the project. The group behind GP-Write is now seeking $100 million for the first thrust of their project. Since the closed door session last year and the criticism it garnered, scientists are more open about the project now. Theyve even published an article and a white paper, explaining their proposal in detail.
One of the fears is that such technology will lead to designer babies. Getty Images.
Jef Boeke is one of the scientists leading the project. He is the director of the Institute for Systems Genetics at New York University. Dr. Boeke recently announced that GP-Write will be able to create artificial human DNA within 4-5 years.
Some geneticists think Dr. Boekes timeline is too ambitious. But most agree that well create an artificial orgasm within the next decade. What are the benefits? Consider 3D printing organs for transplant, eliminating the donor waiting list. Or engineering an immune cell to combat something like an Ebola outbreak more effectively. It may also help us better understand and someday eliminate the role of genes in the development of diseases.
Knowledge acquired through GP-Write could ultimately allow scientists to make human cells resistant to infection, radiation, and even cancer. The results might also lead to new drugs, advanced stem cell therapy, novel gene therapies, and even new biofuels.
To create an organism from scratch, innovative techniques will have to be devised. One thing scientists cant do yet is, take whole sections of DNA and connect them in the right places. CRISPR-a9 or gene editing, will likely help to devise other, similar techniques. Once researchers have artificial chromosomes, theyll inject them into hollow cells and see if they start dividing.
We could design other organisms too, like mosquitoes who can no longer carry dangerous bacteria. Getty Images.
Preliminary experiments are already underway. Critics argue that such efforts could lead to designer babies. Here, certain traits like skin color, height, sex, appearance, and intelligence would be selected by prospective parents. After the outrages propagated by eugenicists and the Nazis during World War II, trying to build a master race, one isnt so baffled by such concerns. Theres even worry over the possibility of patenting genes. Income inequality wouldnt hold a candle to biologically designed inequality, now would it?
Something else thats worrisome, scientists might accidentally create a new genetic disease that could enter the genome and be passed down to future generations. Or, artificially designed cells could get out and wreak havoc in the environment. Dr. Boeke is no longer shying away from public concerns. Now he invites comment. Francis Collins is the director of the US National Institutes of Health. He said, "Moving beyond reading DNA to writing DNA is a natural next step." But he also cautioned that input and discussion with the public is critical.
This is not only to clear up misinformation and garner input but to help shape what regulations should be in place. Just like with other breakout technologies, the innovation seems to be outpacing regulatory efforts. So far, the US has no coordinated biotech policy in place.
Besides controversy, the other stumbling block is cost. The current projection is $.10 per base pair. With three billion of them, the cost quickly adds up. The Human Genome Project cost $3 billion and took 13 years to complete. Should they receive appropriate funding, renowned geneticist George Church at Harvard University, will launch an experiment. He will be heading the program along with Dr. Boeke.
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Human DNA Will Be Synthesized Within 5 Years, Prominent Geneticist States - Big Think
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