[Paleopsych] Human Genetics News 5.5.6

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Human Genetics News 5.5.6

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1.      Pioneering stem-cell surgery restores sight
2.      Genetic Screening for Iron Disease Feasible
3.      Giving its DNA code away
4.      Vampire fears over DNA data
5.      N.C. House members filed eugenics compensation bill
6.      D.C. scientist breaks new lead on gay gene
7.      Lawmakers kill proposed pet cloning ban
8.      Newborn Screening Education Materials Lacking: Study
9.      Spanish government accepts the assisted reproduction

1. Pioneering stem-cell surgery restores sight
29 April 2005
The Times

By Sam Lister, Health Correspondent

A PIONEERING form of surgery has been developed that can restore the
sight of patients by using stem cells to encourage damaged eyes to
repair themselves.
A team of British specialists has successfully treated more than a dozen
patients with impaired corneas by transplanting human stem cells grown
in a laboratory on to their eyes.
Recent operations on ten patients showed that the technique restored
sight in seven cases of people who had been blinded after getting acid,
alkali and boiling metal in their eyes, or because of congenital
Many of the patients treated at the Centre for Sight, Queen Victoria
Hospital, in East Grinstead, West Sussex, had been told that they had no
hope of getting their sight back, or had already undergone failed
corneal transplants.
The process involves taking stem cells, which occur naturally in the
eye, and developing them into sheets of cells in the laboratory. These
are transplanted on to the surface of the eye where they are held in
place by an amniotic membrane, which dissolves away as the sheet fuses
to the eye.
Sheraz Daya, an ophthalmic surgeon leading the Sussex team, which has
spent five years perfecting the technique, said that doctors had been
astonished at how the cells appeared to trigger the eye's natural
regeneration of its damaged surface. Tests on the patients after a year
revealed no trace of the DNA of the stem-cell donor, meaning that the
repair was carried out by the eye's own cells - a permanent healing
process that does not require long-term use of powerful drugs to
suppress the patient's immune system.
Mr Daya said: "The technique not only works, but there was no donor
tissue there. That is what really blew our minds. The cells appeared to
have been shed from the eye and replaced by the patient's own, much more
hardy, cells."
The team, including scientists at the hospital's McIndoe Surgical
Centre, now hopes to identify the processes at work, which might then be
used to trigger the repair of other damaged tissue around the body.
Details of the trial were revealed this month at an international
conference of eye specialists in America. All the patients in the trial
had corneas that had become damaged because they no longer had limbal
stem cells, which are normally under the eyelid and help to keep the
surface of the cornea clear, protecting it.
Edward Bailey, who lost his sight after caustic acid landed in his left
eye while he was cleaning pipes at a yoghurt factory, said that the
operation had transformed his life.
"It was the most emotional moment," Mr Bailey, 65, said. "I couldn't
believe it. For ten years all I had seen was shades of black and grey,
then after I had the operation the nurse came by and I saw a flash of
blue from her uniform. I went home and when I took the patch off my eye,
I had my vision back. It is only when you lose something like sight that
you realise how precious it is."
Nadey Hakim, a consultant surgeon at St Mary's Hospital, London, said
that it was likely that such action could be mimicked in other organs,
thus reducing the need for organ transplants. Professor Hakim said: "The
hope is that stem cells will one day be used to generate large
quantities of cells and tissues and possibly entire organs damaged by
disease and injury. It is a dream."

2. Genetic Screening for Iron Disease Feasible
26 April 2005
The Lancet

NEW YORK (Reuters Health) - Although genetic screening for
hemochromatosis, a type of iron disease, is considered controversial,
new research indicates that such screening can be successfully applied
in a workplace setting with high satisfaction rates.
Hemochromatosis, which is often associated with a mutation in a gene
called HFE, occurs when the body absorbs more iron than is needed from
the diet. Since the body lacks a method to rid itself of iron, it
accumulates in various organs, resulting in a range of symptoms as well
as potentially serious complications. Patients with the disease are
often required to give blood every few months to keep their iron levels
The controversy regarding screening stems from the fact that not
everyone with an HFE mutation will go on to develop hemochromatosis.
This can lead to anxiety among those who test positive and may lead to
discrimination by insurers and employers. However, identifying the
condition early is important to reduce iron build-up before permanent
damage occurs.
As reported in the medial journal The Lancet, Dr. Katie J. Allen, from
the Murdoch Children's Research Institute in Melbourne, Australia, and
colleagues looked for a key HFE mutation in cheek swabs that were
obtained from 11,197 adults at their workplaces.
A total of 1325 subjects were heterozygous for the mutation, meaning
that one of their two HFE genes was normal, while the other had the
mutation. Fifty-one subjects were homozygous for the mutation, having
both HFE genes with the mutation. The remaining subjects had two normal
Subjects homozygous for the mutation are immediately diagnosed as having
hemochromatosis, whereas those who have just one abnormal gene may or
may not develop the disease.
One month after receiving the test results, subjects homozygous for the
mutation did not report increased anxiety compared with other subjects.
Most importantly, nearly all of the homozygous subjects took measures to
prevent or treat iron build-up.
Because the authors were able to reach an agreement with the Australian
insurance industry, all of the subjects who were homozygous for the
mutation had their policies underwritten at standard rates.
At present, an economic analysis is underway to determine if this
screening approach is cost-effective, the investigators note.
In a related editorial, Dr. Paul C. Adams, from the London Health
Sciences Center in Ontario, Canada, comments that the current study is a
"strong endorsement for the feasibility and acceptability of genetic
testing for hemochromatosis in the workplace."
However, he adds that "it is likely that optimum screening strategies,
including no screening, will vary in different countries depending on
various medical, ethical, legal, and social issues."

3. Giving its DNA code away
27 April 2005
Baltimore Sun

By Tricia Bishop

Public domain: The for-profit rival in the race to map the human genome
will give its DNA sequences to a national biotechnology center.

Five years ago on a summer day in the East Room of the White House,
then-President Bill Clinton and Tony Blair - the British prime minister
weighing in by satellite - hailed the mapping of the human genome as
"the first great technological triumph of the 21st century." It was an
achievement that many said would one day lead to eradication of disease
and the creation of made-to-order, individualized drugs.
On each side of the president were the beaming victors, ready to reap
the spoils: a brash, but brilliant scientist named J. Craig Venter, then
president of Celera Genomics Group of Rockville, and the accomplished
Francis S. Collins, head of the Human Genome Project, an international
consortium of academic laboratories led by the National Institutes of
The two factions - the first for profit, the second not - had been
bitter rivals in the race to sequence human genes, egging each other
forward and ultimately, diplomatically, agreeing to share worldwide
credit for identifying the human recipe.
Neither, however, seemed willing to give on one point of contention:
whether the data belonged in the public or private domain - until
During a routine conference call to discuss quarterly earnings yesterday
morning, Celera Genomics announced that after July 1 it would contribute
much of its hard-earned DNA sequence data to public domain through the
National Center for Biotechnology Information, a division of the
National Institutes of Health.
"This data just wants to be public," said a pleased Collins, who is also
director of the National Human Genome Research Institute. "It's the kind
of fundamental information that has no direct connection to a product,
it's information that everybody wants, and it will find its way into the
Celera Genomics, a unit of Connecticut-based Applera Corp., was unable
to make a commercial success trading in the genetic information. It has
spent the past three years slowly dismantling its foundation as a
supplier of genetic data to instead concentrate on drug development, a
transformation that will become official this summer.
"This has been a very long kind of planned exit strategy from that
business," Peter Dworkin, Applera's vice president for investor
relations, said in an interview. "We're coming to an end of that
Also coming to an official end is a contest that has raged for years,
begun when Celera increased efforts to map the human genome by declaring
it, too, would tackle the project, despite an eight-year head start by
public laboratories.
A competition
The story began in 1998, when Applera created Celera Genomics to
leverage technology developed by another of its holdings, Applied
Biosystems. Applied Biosystems had created the means to sequence genes
being used by scientists within the Human Genome Project, under way
since 1990.
Celera's presence turned the project into a competition, both
frustrating and fruitful for the consortium scientists, who were
suddenly forced to speed up their efforts and consider other
Access to the resulting information was a battleground from the start,
with some opposing Celera's efforts because they feared the company
would try to patent the genes and lay claim to the human gene code.
Shortly before the historic joint announcement in June 2000 that the
first full-length record of human DNA had been catalogued, both Clinton
and Blair had argued for "unencumbered access" to the data.
And Celera obliged, with a caveat: cost.
Many believed there was money to be made on the data itself, selling
access to it or developing drugs based on it. But it was much easier
said than done, and a venture that some say is still best suited to the
world of grant-funded research, which can focus on discoveries with less
worry about the bottom line.
Celera's get-rich plan was to sell subscriptions to the genetic
information, and get "income from customers using our data to make
discoveries," Venter, the company's former president, said in 2000.
What he and his colleagues didn't quite seem to grasp was that their
counterparts in academia had similar information, and they weren't going
to charge for access to it.
Others ran into similar situations, discovering that academics were
publishing their research on the Internet, accessible to anyone with a
computer and a connection. Incyte Pharmaceuticals of Delaware, for
example, began life as a company that sells genomic research databases,
but today - like Celera - is becoming a "leading drug discovery and
development company by building a proprietary product pipeline of novel
small molecule drugs," according to its Web site.
Stocks soared
"People don't want to pay for it if it's going to become free," said
Constance Hsai, a biotechnology analyst who follows Celera Genomics for
SG Cowen Securities Corp. in New York. Hsai owns five shares of the
company's stock, bought years ago when she was a graduate student and
stocks for companies working on the human genome map were soaring,
peaking at $247 per share in March 2000.
They've since fallen back to earth: Celera Genomics' stock fell 30 cents
yesterday to close at $10.07 on the New York Stock Exchange.
"This was all uncharted territory, we were trailblazers and pioneers in
this area. ... We really helped kind of create this era of genomic
science," Dworkin said. "You can't know everything when you start out."
Venter resigned from the business in 2002, shortly before the company
announced it would shift gears and stop marketing its genome databases.
Those resources would instead go toward developing products.
Applied Biosystems still makes technology others can use in interpreting
the information, whether they've paid for access to it or found it free
on the Web.
"It's a natural evolution of genome science," said Dennis Gilbert, chief
scientific officer of Applied Biosystems. "The payoff from the human
genome is discoveries people will make, and that's the phase we're
entering now."
Those affiliated with the Human Genome Project say Celera's information
had become outdated as well because they stopped at mapping a draft of
the human genome, while the public consortium worked until 2003 to
complete its data.
"In many ways, the product that Celera was holding onto decreased in
value," said Aristedes Patrinos, who represented the U.S. Department of
Energy in the Human Genome Project. He also lent the use of his basement
to the two sides in May 2000, when, over jalapeno pizza, Venter and
Collins agreed to share credit.
Patrinos said he believes Venter, who could not be reached yesterday,
would want the information public. Venter is busy with other enterprises
these days, though.
He's started his own non-profit organization - the J. Craig Venter
Institute, based in Rockville - "dedicated to the advancement of the
science of genomics" and understanding its societal implications.
Currently, his institute is working on projects to catalog the genomic
spectrum found in air, as well the various microbes in marine and
terrestrial environments. Venter has sailed around the globe collecting
Seeing variations
Collins said the information released by Celera to the National Center
for Biotechnology Information - certain human, mouse and rat DNA
sequences - will likely not do much to further assembly of genomes,
though it will be useful in demonstrating how data differs in different
"I give a lot of credit to [Applied Biosystems] and Celera," Collins
said. "It does make sort of the battle days of what appeared to be an
unpleasant race a distant memory."

4. Vampire fears over DNA data
3 May 2005
The Australian

Karen Dearne

A PRIVATE DNA database project that aims to collect blood samples from
100,000 indigenous people - including Australian Aborigines - as a means
of tracing ancient migration routes has reignited fears of "vampire
research" and claims of biopiracy.
The $US40 million ($51 million) Genographic Project, led by US
population geneticist Dr Spencer Wells, will rely on massive computing
power to investigate the genetic roots of modern humans.
National Geographic is co-ordinating an international team of scientists
to collect DNA samples and oral histories from indigenous people.
IBM is contributing its Blue Gene computational biology machines and
data analysis tools.
The five-year project, funded by the Waitt Family Foundation, headed by
Gateway computer billionaire Ted Waitt, was immediately denounced by the
US-based Indigenous Peoples Council on Biocolonialism.
The group declared the Genographic Project "a clone" of the Human Genome
Diversity Project that it defeated in the early 1990s.
Dubbed the "vampire project", the HGDP was considered to be an
"unconscionable attempt" by genetic researchers "to pirate our DNA for
their own purposes".
The council has called for an international boycott of IBM, National
Geographic and Gateway until the project is dropped.
It's understood the matter will be discussed by the Australian Institute
of Aboriginal and Torres Strait Islander Studies at its council meeting
this month.
Institute research director Luke Taylor said the body had only been made
aware of the project through a media kit that arrived a couple of days
before its Australian launch.
"The kit has been referred to inistitue chairman Mick Dodson and we'll
be evaluating it, Dr Taylor said.
"At this stage, there has been no consultation with us, and we've been
given no details of what appears to be a complex and problematic study."
The media kit invites participation in the public part of the project.
Anyone can take part by logging on to the National Geographic website,
paying a $US100 fee for a swab kit to return a saliva sample, and
providing some non-identifying family information for inclusion in the
GeneEthics Network executive director Bob Phelps said the project was
being "sweetened" by public participation and access, but "it's still
"Here we've got indigenous people who are being overrun by dominant
populations, but these researchers are not advocates for them," Mr
Phelps said.
"It's like animals in the zoo: taking the last remnants of disappearing
peoples and grabbing the material that may be of scientific or
commercial use in the future.
"They're making sure that their DNA doesn't disappear, instead of saying
these people are of value and are entitled to survive in their own
right, aside from their genetic material."
The head of IBM's Computational Biology Centre, Ajay Royyuru, said the
Genographic Project would not involve collection of sensitive
information on individuals' medical or health status.
"The information we're gathering is only about geographic location and
the language they speak," Dr Royyuru said.
"We aim to create a database that holds information about markers that
speak of deep ancestry and the migratory routes that our ancestors have
"We are deliberately not looking for health information. We will not be
gathering data that is medically relevant."
All research outcomes would be published and the entire database would
become a public resource at the project's completion, he said.
"We recognise that the data we're gathering is perhaps the most personal
information. It is you, your genome, which is unique to you," he said.
"We've found that if we are up-front about what we will do and what we
will not do, if we tell people what the project's about, they're
actually delighted to participate. If the project succeeds, it will be
because enough people on the planet understand that when we share this
data, we'll be able to interpret it.
"We can only discover the story of our migratory history when we put all
the details together and look at the correlations."
Australian Law Reform Commission acting president Brian Opeskin said
there were considerable medical and cultural sensitivities about the
creation of genetic databases, and particularly commercial use of the
An ALRC inquiry on the protection of human genetic information in 2003
recommended strengthening existing measures.
"No one would really doubt the value of many of these databases,
particularly for medical research, but questions arise when there are
conflicts of interest and profit-taking by those involved in collecting
the data," Mr Opeskin said.
"Every few months there's some new use for genetic information.
"What happens when researchers collect DNA data for one purpose, and
then want to make different uses of it later?
"If people are well-informed they are often quite happy to be altruistic
in contributing their samples, but discovering later that the material
is being used for commercial purposes often causes a lot of grief."

5. N.C. House members filed eugenics compensation bill
5 May 2005
Tuscaloosa News, Alabama (Associated Press)

North Carolina would give each victim of eugenics sterilization in the
state $20,000 in compensation if a measure filed Thursday in the state
House became law.

The bill, filed by several Democrats, would place $69.1 million from a
special fund to cover claims filed before mid-2009.
About 7,600 people were sterilized under North Carolina's program, which
ordered the operations from 1929 through 1974. Many of them were
sterilized against their will, and the program was the third-largest in
the nation, after California and Virginia.
Some researchers say about 3,400 victims are still alive in North
Most of the victims were poor women who were often talked into
sterilization by social workers. Inaccurate labels of
"feeble-mindedness" were often used as justification based on eugenics,
the movement to solve social problems by preventing the "unfit" from
having children.
Gov. Mike Easley apologized for the program in 2002 after the
Winston-Salem Journal ran a series of articles exposing the abuses that
took place.
Legislators also repealed the state's old sterilization law, but the
state has not offered any tangible form of compensation. A commission
that Easley appointed in 2003 recommended that the state at least
provide health and education benefits for sterilization victims. Those
benefits haven't been approved.
The bill would order the Department of Health and Human Services to
determine whether each claim was valid. Compensation for a person who
files a claim but dies before receiving the money would be forwarded to
a descendant's estate.
House Speaker Jim Black, D-Mecklenburg, said recently he wants legal
issues thoroughly researched on the compensation idea. Senate leader
Marc Basnight, D-Dare, hasn't taken a position yet on the idea.
Some fear that the requested reparations would set a precedent for other
types of victims.

6. D.C. scientist breaks new lead on gay gene
6 May 2005
Washington Blade

By Eartha Melzer

NIH study builds on genetic theory of sexual orientation

A recent study by researchers at the National Institutes of Health has
added to the body of knowledge on the relationships between genes and
sexual orientation, according to a recent issue of Human Genetics.
Although the research was concluded two years ago, the small number of
people working on the issue resulted in a delay of two years before the
research was published, lead investigator and D.C. resident Dr. Dean
Hamer said this week.
The investigation builds on studies that have suggested that there tend
to be clusters of gays within a family. In 1993, a group of researchers
under the direction of Hamer, who was also a researcher on the recent
study, examined DNA from gay men and their family members and found that
gay men within a family share a segment of DNA on the X chromosome,
which men inherit only from their mothers.
"This told us that genes play a role," said Brian Mustanski, one of the
researchers on the genomescan. "But it doesn't tell us where the genes
are or what they do."
To develop a more precise picture of what genes might be involved in
sexual orientation, researchers examined the genes of 456 individuals
from 146 unrelated families - 137 families with two gay brothers and 9
families with three gay brothers.
Researchers reasoned that brothers are expected to share an average of
50 percent of their genes but that genes that influence sexual
orientation would be shared more than 50 percent of the time by gay
Mustanski compared the process of scanning gay brothers for sexual
orientation-related genes to looking for doctors in a town of 40,000
people, a number that corresponds to the number of human genes.
"You could take a guess that [a doctor] probably lives in a six bedroom
brick house - and only go to a few houses that meet this criteria,"
Mustanski said.
"Alternatively, you could go to every street in the town and knock on
one door in the neighborhood and ask them if a doctor lives on their
street. We used this second approach and narrowed it down to a few
streets that are likely to have a doctor on them. When we say
'chromosomal regions,' it is akin to the street. The next step is to
discover which specific gene within these newly discovered chromosomal
regions, is related to sexual orientation," he said.
The researchers placed 403 markers across the genome.
This strategy revealed three chromosomal areas that are shared by the
gay brothers around 60 percent of the time. This frequency of shared
markers is not a "significant link," according to Mustanski but it does
rise to the level of "suggestive link."
Mustanski said that the idea that these chromosomal regions are related
to sexual orientation is very compelling because the areas identified
through the scan are known to contain genes involved in sexual
"I think it's important because it reinforces the theory that sexual
orientation is at least partially genetic and that there are many
different genes, not just one or two," Hamer said. "I think it is
important knowledge because homophobes often argue that sexual
orientation is a choice, which simply isn't true. It is important to
have concrete data showing that it is not simply a choice."
Research into genetic aspects of homosexuality is controversial. Hamer
said that the effect of politics on science can be seen in the fact that
there have only been five papers on the subject in 10 years.
"In 1994 our lab discovered a gene involved in anxiety, and there have
been 850 papers on that." Hamer said.
The Council for Responsible Genetics, a 21-year-old Cambridge,
Mass.-based group founded by scientists to educate the public on
genetics issues, has issued a position paper on the hunt for the genetic
basis of sexual orientation.

7. Lawmakers kill proposed pet cloning ban
4 May 2005

SACRAMENTO, Calif. (Reuters) - California lawmakers rejected a proposal
on Tuesday that would have banned sales of cloned pets, a measure aimed
at a San Francisco-area company's bid to replicate beloved family
animals for profit.
Proponents of the measure argued for the pet-clone ban because the
technology was unregulated and animal shelters were already filled to
capacity with potential pets.
The proposed ban came after the first sale of a cloned pet last year by
Sausalito, California-based Genetic Savings & Clone Inc.
The company revealed in December it had cloned a cat -- named Little
Nicky after its progenitor, Nicky -- for a client in Texas for $50,000.
The privately held company financed by billionaire John Sperling has
said it has other cat clones in various stages of production and is
developing a dog-cloning service.
A California State Assembly committee rejected the bill after lawmakers
raised concern a ban on cloned pets was premature because of
uncertainties surrounding the future of the technology.
"I believe that the bill is a good candidate for a serious study by
experts," said Democrat Gloria Negrete-McLeod.
Defeat of the measure came as California moves to set up its own $3
billion publicly financed stem cell research program, the largest pool
of public funding in the United States. The pet cloning ban would not
have extended to stem cell research, according to its sponsor.

8. Newborn Screening Education Materials Lacking: Study
4 May 2005
DrKoop.com (from HealthDay Reporter)

By Serena Gordon, HealthDay Reporter

Parents aren't getting enough or the right kind of information,
researchers say

Parents aren't getting enough information about the genetic screening
tests performed on their newborns.
That's the conclusion of a study appearing in the May issue of
Pediatrics that found the materials explaining newborn screening tests
varied significantly from state to state, and none of the materials
contained all of the information recommended by the American Academy of
Pediatrics (AAP).

9. Spanish government accepts the assisted reproduction
6 May 2005
EITB4 - Basque news and Information Channel

The standard, which expects genetic selection with therapeutic aims for
people, maintains surrogate mothers are forbidden, but fixes no deadline
regarding age for artificial insemination.
The board of ministers will predictably approve the draft bill on human
assisted reproduction techniques. The law banns human cloning with
reproduction aims.
The standard, which expects genetic selection with therapeutic aims for
people, maintains surrogate mothers are forbidden, but fixes no deadline
regarding age for artificial insemination. Another novelty would be the
creation of a National Register Office for Donors, and a Register Office
that gathers activities of assisted reproduction centres for clients.
Control of assisted reproduction techniques The law is expected to come
into force in 2006. The objective is to control the application of
assisted reproduction techniques to facilitate couples with fertility
problems to have children. These techniques could treat and prevent
The new law will prohibit human cloning with reproduction aims, as the
European Constitution does. Regarding cloning with therapeutic aims, the
ministry is carrying out the Investigation Law in Biomedicine. If a
couple wants a child with strong immune system that could cure his
brother, the Investigation Law could work on it. It's expected families
won't need to travel abroad, as it has occurred until now.


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