September 2007 Archives

The same way a map will never have the exact shapes of the earth... But they help you get from point A to point B.

Here is the newspaper article:

Of genes and motherhood: Even when our children resemble us, the outcome can be very different
By Carey Goldberg, Globe Staff  |  September 24, 2007

I am the dark-haired, brown-eyed mother of two blond, blue-eyed children. In airports and parks, I expect to be mistaken for their nanny.
My abdominal scars can attest that they are my biological children and were built using some of "my" genes.

But we are not Mendel's peas, and the more we learn about genomics, the less pea-like we seem.

Even when we each start carrying around our personal genome disks in our pockets, our data will differ from our children's in thousands of ways. And even where our genes look identical to theirs, our bodies and minds could well differ, influenced by many other factors, including the portions of our DNA that don't code for genes, our environment, and our behavior.

So our changeling children can help remind us that our own lives and health will remain - for the most part - beyond our powers to predict. And our children's lives, with their mishmash of father's and mother's lineage, so much the more so.

"Genetics is not destiny," said Dana Waring of the Personal Genetics Education Project, a year-old effort funded by a Harvard genetics lab to inform and engage the public in thinking about the dawning personal genomic era. "The more we learn about genetics, the more complex and the more layered the story becomes."

It used to seem simpler. More than a century ago, Mendel wrote about genes as discrete traits: the offspring of a purple-flowering pea plant and a white-flowering pea plant would bloom purple or white in fairly predictable numbers, not lavender. Remember the little boxes from high school biology class with the capital B's for dominant brown eyes and the small b's for recessive blue eyes?

Some traits really are that simple - single-gene diseases such as Huntington's. And actually, eye color and hair color are passed on relatively simply as well - it's just that my children happened to inherit my husband's.

Researchers have long tended to focus on such simpler traits because they are easier to investigate and do explain a few serious diseases.

But that old Mendelian model is increasingly giving way now, both in research and in the public mind, to a more complex understanding of genetics, said Dr. David Altshuler, a Massachusetts General Hospital geneticist.

Genetic research has finally developed the tools to begin cracking the complex diseases that most hurt human health - cancer, diabetes, heart failure.

The great majority of things we care about passing on, and developing in ourselves, are complex traits as well, affected by multiple genes and the environment as well. Intelligence, temperament, even something as seemingly simple as height.

Earlier this month, researchers from MIT, Children's Hospital Boston, and elsewhere announced that they had pinpointed the first gene that was definitely, consistently associated with height in the general population. How much of a difference did it make? About one centimeter, or one-third of an inch, if you inherited two copies of the key variant.

The researchers figured that the gene, nailed down in a giant study of some 35,000 people, accounted for just 0.3percent of the total variation in height in humans. So how many genes do you think are involved in a more subtle characteristic, like the hand-eye coordination of athletic talent or facility with language? Hundreds? Thousands? Mixed in with millions of minutes in school and home environments?

You do see mini-me's here and there, children unmistakably all-but-cloned from a parent. And on average, your child will be much more like you than someone else, Altshuler said. But there is a multitude of genetic variants that influence who you are, and another multitude that influence your partner, so your kids end up a unique mixture that differs dramatically from each of you.

More genomic information may well cast some light on our chances for certain diseases and characteristics, Waring said. But - unsatisfying as this may be to many people - it will offer little black-and-white foreknowledge of future disease or a child's future brilliance. Mainly, it will "illuminate more gray areas," she said.

So if your children are not a visible repositories of your genes, what makes them yours?

Perhaps: Holding. Feeding. Diaper-changing. Letting them own you.

You may choose to have a child in hopes of replicating yourself, said Dr. Isaac Kohane, a Harvard Medical School computer scientist, genomics researcher and seasoned father of three.

But those "selfish genes," he pointed out, "are not the ones woken up at 2 a.m."

Team: Sudbury United

Andy will play at a Special Olympics Massachusetts tournament October 21st. at Milton, Ma.

IVF couple screened to avoid Alzheimer's risk

By Rebecca Smith, Medical Editor

A couple who fear their child could inherit a rare form of Alzheimer's are to undergo embryo screening to eliminate the risk.

The Human Fertilisation and Embryology Authority has granted a licence to a fertility clinic to carry out IVF treatment with the sole aim of ensuring that the dementia, which can take hold from the age of 35, is not passed on.

Early-onset Alzheimer's can be passed down the generations and now joins the growing list of inheritable conditions for which doctors are allowed to test embryos.

The technique has sparked controversy because there is a one in four chance of discarding unaffected embryos. Opponents fear screening will lead to "designer babies" where parents choose hair colour, athletic ability and intelligence.

The Bridge Centre has been granted a licence by the authority to screen embryos for Charl and Danielle de Beer, from London. Specialists will only implant embryos that are not carrying the gene defect that leads to early onset of Alzheimer's.

Mr de Beer's mother, Patricia, developed Alzheimer's at 49 and died aged 64. His grandmother and two uncles have also died prematurely from the condition.

There is a 50 per cent chance that he is carrying the condition and a 50 per cent chance of passing it on. He does not want to know if he is carrying the disease but he and his wife want to ensure their child is spared the suffering.

At the time the clinic applied for a licence Mr de Beer, 34, said: "My family has been dealing with Alzheimer's for 15 years. I am not prepared to run the risk of passing this on and my wife has the same view."

Mr de Beer's father's side of the family is unaffected and specialists will screen embryos to ensure only the chromosome from that side is passed on. This is known as exclusion testing. But it does mean that healthy embryos could be discarded.

Dr Alan Thornhill, the scientific director at Bridge, said this happened in nature and in ordinary IVF anyway. He said the process was so difficult emotionally and physically that it was highly unlikely anyone would want to do it for anything other than serious and life-threatening diseases.

He said that because early Alzheimer's struck in the late 30s and early 40s, it can mean the sufferer "has only half a live worth living".

There are 500,000 people with Alzheimer's in the UK. About five per cent, or 750, of early onset cases are caused by defective genes.

Neil Hunt, the chief executive of the Alzheimer's Society, said: "Dementia is a devastating condition that robs people of their lives. While the Alzheimer's Society is not in the position to comment on the ethics, it is important to note that this situation is extremely rare. Further research and, ultimately, a cure is the only way to stop millions more families being torn apart."

A spokesman for the embryology authority said: "Early onset Alzheimer's is a serious genetic condition where dementia occurs in patients from the age of 35.

"There is a high risk of the condition being passed on to any children that the carriers may have.

"The screening process was a way of preventing its passage and the authority's licence committees went through a very careful

process, involving taking expert scientific advice to determine whether the technique was appropriate.

"This looks at eight factors, including degree of suffering and speed of degeneration associated with the condition," she said.

 

Article here.

Since I decided to write a book about our story and while I find literary depth and context, I've been trying to learn about book publishers.

I find this story amazing:

Scholastic Pockets $240 Million from Potter
By Jim Milliot -- Publishers Weekly, 9/20/2007 7:21:00 AM

Harry Potter and the Deathly Hallows came through for Scholastic in the first quarter ended August 31, helping to drive up revenue 75%, to $586.9 million. Hallows, along with the six previous Potter titles, contributed sales of $240 million in the period, propelling revenue in the children's book publishing and distribution segment to $342.5 million from $112.6 million. The huge influx of sales resulted in an operating profit in the segment of $2.7 million in the quarter, compared to an operating loss of $67.3 million last year. For all of Scholastic, the company had a loss of $2.8 million compared to a $46.9 million loss in last year's first quarter.

More here.

A man's testicles might be a source of stem cells to help him fight serious diseases, US scientists have shown.

They extracted early-stage sperm cells from mice, then turned them into cells capable of becoming different tissues.

Writing in Nature, the Weill Cornell Medical College team said their work might lead to treatments for illnesses such as Alzheimer's and diabetes.

However, some doubt has been expressed on the willingness of men to undergo the procedure to extract the cells.

Stem cells are the body's "master cells" that, in theory, can become any type of cell in the body.

Embryo opposition

An obvious source of these is from the human embryo, as unlike adult cells, these have the potential to grow into any tissue type.

However, ethical concerns over the use of embryos in medicine mean that scientists are hunting for a source of easily-harvested adult cells which could be coaxed into any variety of cell.

Stem cells have already been extracted from mouse testicles - however, the New York team is claiming a more reliable way to isolate and develop them, increasing the potential for larger numbers to be produced successfully.

The testicular cells do not need to be genetically "tweaked" to behave more like embryonic stem cells, unlike other "adult stem cells" found elsewhere in the body, say the scientists.

Dr Shahin Rafii, who led the research, said: "It appears that these unique specialized spermatogonial cells could be an easily obtained and manipulated source of stem cells with exactly the same capability to form new tissues that we see in embryonic stem cells.

"For male patients, it could someday mean a readily available source of stem cells that gets around ethical issues linked to embryonic stem cells.

"It also avoids issues linked to tissue transplant rejection, since these 'autologous stem cells' are derived from the patient's own body."

Painful process

He listed several illnesses which he hoped could be tackled using stem cell technology, including Parkinson's Disease, Alzheimer's, stroke, diabetes and even certain cancers.

It is hoped that one day, implanting large quantities of stem cells into tissue damaged by disease could prompt the body to replace it.

Professor Colin McGuckin, a researcher in stem cell biology at the University of Newcastle, said that several research teams around the world were looking into the potential of the testicle as a stem cell source.

He said: "At present, there is an awful lot of interest in this from veterinary circles as a source of stem cells for animal use.

"I can see more problems getting humans to agree to have this done, as it would be a very painful procedure to have them extracted."

 

Article via BBC here. 

PGDIS coordinates research, education and training in preimplantation genetic diagnosis (PGD), requiring a close collaboration of obstetricians, fertility specialists, embryologists and human geneticists, to insure safety and accuracy of PGD and its application into clinical practice for improvement of genetic practices and reproductive medicine.

OBJECTIVES:

Collect and distribute the information on the progress of centers involved in Preimplantation Genetics Diagnosis (PGD) and coordinate their activities
Organize International Conferences on Preimplantation Genetics
Promote the implementation of accurate PGD technology available in the field
Organize conferences and symposia, as well as corresponding sessions on PGD in association with other related Congresses.

More here.

I received this article today about PGD.

PGD stands for Pre-Implantation Genetic Diagnosis, the procedure we used to find Sofia.

 

 

HEALTH BEAT: PRE-IMPLANTATION GENETIC DIAGNOSIS

Genetic test's benefits and ethics debated
By William Hageman | Tribune staff reporter

Imagine a procedure by which an inherited disorder -- say, hemophilia -- can be permanently eliminated from a family's gene pool.

It's not the stuff of science fiction; it's called pre-implantation genetic diagnosis and has become a tool for fertility specialists.

"From my viewpoint, it's broken the sound barrier of human reproduction," said Dr. Joel Brasch, medical director and founder of Chicago IVF fertility clinic. "We're now in control of our genetic pool."

PGD is not without controversy, however; a recent article in the New England Journal of Medicine cast doubts on some of its benefits. Other specialists fired back a rebuttal to that article.

PGD is performed as part of in-vitro fertilization. In IVF, eggs are extracted from the female, then combined with the male's sperm to create a human embryo, which is then transferred into the woman. By testing the embryo before implantation, Brasch said, doctors can spot genetic markers for cystic fibrosis, breast cancer, ovarian cancer, multiple types of leukemia and hemophilia. Down syndrome also is identifiable through PGD. And by using embryos without any of the markers, the diseases can be removed from a family's gene pool.

There are 4,000 to 5,000 genetic markers right now, Brasch said, "and the list is growing monthly."

Still, cautioned Dr. Eugene Pergament, a clinical professor in the Department of Obstetrics and Gynecology at Northwestern University's Feinberg School of Medicine, recent studies are casting some doubt on the overall benefits of PGD.

"Conceptually it makes a lot of sense, to think you can literally reach in, remove a cell, genetically analyze it and enhance a pregnancy and pregnancy outcome," he said. "But it's turning out to be quite the opposite. It is not enhancing the pregnancy outcomes. It's not even enhancing the pregnancy rates."

That's because PGD, which has been in use since 1990, is used not only to test for a rare inherited disease but also as a test for other chromosomal abnormalities, such as the cause of recurrent miscarriages, or for patients having IVF with advanced female age or patients of any age who have had repeated IVF failure.

"The controversy about PGD," Pergament said, "I think a large part of it is the ethicacy of doing what we call aneuploid screening." That involves looking at and eliminating embryos carrying an abnormal number of chromosomes, which is separate from screening for inherited conditions. "Aneuploid screening is a very popular approach, and that is controversial."

He said studies in Belgium and the Netherlands have found that PGD is not effective, an idea that was repeated in the New England Journal of Medicine.

Despite the doubts, PGD is becoming more common. Worldwide, 2,000 to 3,000 PGD procedures were performed in 2000. That number today is thought to be between 5,000 and 10,000 a year, maybe even closer to 20,000. Definite numbers are difficult to come by because of the absence of a worldwide database.

Last year, a study conducted by Johns Hopkins University's Center for Genetics and Public Policy, in cooperation with the Society for Assisted Reproductive Technology, found that 74 percent of the 186 in-vitro fertilization centers surveyed offered PGD services to their patients. The clinics reported doing approximately 3,000 PGD procedures in 2005, and authors of the study estimated that 4 percent to 6 percent of all in-vitro cycles included PGD.

Brasch emphasized that PGD is not cloning, gene manipulation or experimentation, which are against the law. It is merely gene identification, which is legal, and is an alternative to selective pregnancy termination.

He also realizes it generates debate.

"We are years, maybe decades, away from dealing with these technologies from a legal or ethical perspective," Brasch said. "It's fascinating, but the technology comes decades before the legal questions or ethical questions."

No doubt about it, there's no manual for parenting. There are some books, magazines and websites out there that talk about parenting ...

To tell you the truth I find it boring when someone tries to tell me how to make children behave while they are eating.

Maybe its because of my "extreme parenthood" experience...

I do know that I got my parenting skills from my parents and grandparents.

Here's a parent who needs some help:

This is what happens with Spanish at home and English elsewere.

This is a small sample of Andy and Sofia's spanglish:

No es feria = It's not fair

Farma = Granja = Farm

Sanguien = someone

Juega la pelicula= Play the movie

Climbeando = subiendo = escalando

Looking for runners to team up with Andy,

I recently received the following message:

==============

We have officially kicked off the 2008 Miles for Miracles Marathon program. We are now accepting applications for the Boston Marathon®, Monday, April 21, 2008.

We're accepting applications for invitational waivers until Monday, October 1st. Apply online: www.childrenshospital.org/bostonmarathon. We will start notifying runners of their status the week of October 8th.
Questions about applying? Contact Stacy Devine at: (617) 355-2896 or email run@chtrust.org.

Thank you for your interest in running for Children's Hospital Boston.

Best regards,

Miles for Miracles Staff

Five must-do's when a loved one is ill

Rule No. 1: Don't be afraid to intervene
Rule No. 2: Ask questions until you understand the answer
Rule No. 3: Remember that you know things the doctors don't
Rule No. 4: Temper your loved one's enthusiasm for quick fixes
Rule No. 5: Scope out the nurses

Article via CNN here.

This is a cool video that I received about TCells attacking rapidly dividing cancer cells:

Notable numbers

98,987 - Number of US deaths in which hospital- acquired infections are a contributing factor. This is 2x the number of deaths due to car accidents annually in the US.

12,000 - The estimated annual number of health care associated S. aureus blood stream infections in the US. Beginning in 2007 Medicare will no longer reimburse for these infections.

40 - The number of days Clostridium difficile has been proven to survive in a hospital room.  The use of Dispatch (diluted bleach wipes) and hand hygiene with soap and water will stop the transmission of this organism.

11 - The number of days that MRSA microbes have been shown to survive on common hospital materials such as laminated table tops. Wiping with Caviwipes will stop this contamination.

Source: Dana Farber Cancer Institute

Conner Smith is at day 21 post transplant, he is 13 years 3 months old and he had NEMO deficiency.

This from his parents blog:

This morning Conner said, "BMTs suck eggs, but it will be worth it... I guess." Needless to say, Conner isn't feeling like his normal perky self. He had a very rough night and even vomited up his NG tube again.

 

More via www.cure4conner.org

New Guide for Nurses
IDF Guide for Nurses on Immune Globulin Therapy 

Guide available here.

This is a cool gadget used to purify water.

SteriPEN™ is the only portable water purifier that uses ultraviolet (UV) light to destroy waterborne microbes. Whether your source is a woodland brook or an overseas hotel tap, SteriPEN purifies clear water by destroying viruses, bacteria and protozoa--including Giardia and Cryptosporidium--in seconds. Carry a SteriPEN to disinfect water wherever you travel, hike, camp or trek. It's the fastest route to pure, safe drinking water anywhere.

 

More info via the manufacturer Hydro-Pothon here.

 

Available at Amazon.

SteriPEN Water Purification System Pack

 
September 1, 2007  |  Acuson P10, is a hand-held device intended for complementary initial diagnostic care and triage, particularly in cardiology, emergency care and obstetrics. .It is poised to change the physical exam by providing immediate information to health care providers at the earliest possible patient intervention points, such as intensive care units, ambulances and medical helicopters. The advantages of the new system are its portability, easy handling as well as its fast and consistent availability to the physician. The device is barely larger than a Blackberry and weighs just a little more than 700 grams. 

Jack Hagelin
September 4, 2002 - March 27, 2007
 

This from Charlotte, Jack's Mom:

We have now realized that we no longer want to mourn Jack's life but really want to celebrate it.  So here is the plan, tomorrow is Jack's 5th birthday and we are asking you to celebrate with us by wearing blue and orange.  If you don't have any of those colors in your closet just wear the wristband.  If you can, please send us a picture of your blue and orange so we can see that you celebrated along with us. We are planning a balloon launch and some cupcakes with a small group of friends and family which I am hoping to be very nice.  Thank you all for always reading on the blog and continuing to be part of our lives.  

Love, Hugs and Kisses,
Char

More at www.cure4jack.org

Company name: StemLifeLine

Website: http://www.stemlifeline.com/

Sales pitch: A novel service for individuals who have undergone in vitro fertilization, fulfilled their childbearing needs and now have to decide what to do with their remaining stored embryos. We can help transform these embryos into individual stem cell lines that our clients may one day use to create personalized therapies for themselves and their families.

AT - Opinion: It's like buying a space suit today for future comercial moon travel.

Another sales pitch from their website: Using StemLifeLine's service to develop a personal stem cell line is like buying insurance for the future. More than a decade of scientific data strongly supports the future use of embryonic stem cells for treating a variety of degenerative conditions, such as those that occur following spinal cord injury, or Parkinson's disease, diabetes, and heart disease.

AT - It would be like saying: Buying our space suit is like buying your trip to the moon today. More than 30 years of space travel strongly supports the future use of this space suit to travel to the moon and other planets like Mars, Saturn and Neptune.

AT - Down to earth: In the coming years science will uncover many new treatments with embryonic stem cells for disease and injury. Embryonic stem cells may unlock the mysteries of early human development, help diagnose disease and be used as tools to discover new drugs. Extra embryos are essential for researchers to get from this point to the treatments the world desperately needs.

AT - Questions: Is privately storing embryonic stem cells a good strategy against a disease-free future?
The technique used today to store the stem cell line will change in the future. What do they use to preserve the cells? How do they grow the stem cell line? Is it better to donate remaining store embryos to research?