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April 2009 Archives
April 25 is National DNA Day, a day created to commemorate the completion of the Human Genome Project in 2003, and to commemorate the discovery of DNA's double helix structure. Today, we also celebrate the release of the total COW genome - see some great questions below from a local New Jersey high school.
Excerpted from: 2009 National DNA Day Moderated Chat Transcript
Q: American History HS in NJ (n/a grade teacher): HIV has proven to be a formidable enemy. How can our knowledge of DNA help put us a step ahead of the many mutations of this virus and allow us to conquer it?
A: Monica Alvarado, M.S., C.G.C.: One approach that may be promising is gene therapy. Clinical trials are under way to explore the potential for gene therapy as a treatment for HIV.
Q: American History HS in NJ (10th grade student): Can a trisomy like Down Syndrome, which is identified before birth, be corrected before the child is born so that he won't have the syndrome?
A: Don Hadley, M.S., C.G.C.: As you probably know, Down syndrome involves a person having an extra chromosome 21 in each and every cell of their body that exerts its effects from the time of conception.Therefore, trying to take that chromosome out would be essentially impossible early enough to make a difference. From a slightly different perspective, I would love to take away the medical problems people with Down syndrome experience, but I would not want to change them otherwise.
Q: American History HS in NJ (10th grade student): I am surprised that cows share so many genes with us. What other animals would I be surprised to find out have such commonalities? (Not including primates.) Stephanie Fisher
A: Praveen Cherukuri, Ph.D.: It all depends on the "degree of sharing" and how one defines "sharing". We share DNA sequence similarity in certain genes to varying degrees with a lot of living organisms. These genes in essence are critical for the maintenance of life. Although the similarity in genes is high (or low for that matter), one needs to be aware that, it is highly critical when (temporal) these genes are expressed and to what degree (levels of protein product) they are expressed.
Q: American History HS in NJ (n/a grade teacher): What is your position on companies who offer pet cloning services? Understanding that it is the DNA (and not necessarily Fluffy's amazing capacity for tricks) that is being cloned, aren't they taking advantage of a person's emotions?
A: Vence Bonham, J.D.: I believe it is helpful to have a basic understanding of the science, that will help individuals understand what it means to "clone" their pet. Learning science is important!
Q: American History HS in NJ (n/a grade teacher): We are in the middle of the 6th mass extinction. As we continue to map out genomes for various organisms, could there be hope for the next version of man to have the technology to 'repopulate' the planet with the amazing organisms that have become extinct?
A: Heather Junkins, M.S.: The idea of recreating extinct populations is highly controversial and needs further examination.
Q: American History HS in NJ (n/a grade teacher): Advances in technology and the understanding of DNA have enabled for the identification of genes that cause cancer and other diseases. How soon can we turn those genes 'off' so that once identified, they can no longer code for their particular disease.
A: Dawn Peck, M.S.: Many genes have been identified to play a role in cancer. They work in different ways. Targeted pharmacogenomic medicines will probably be useful sooner than turning genes off.
Q: American History HS in NJ (n/a grade teacher): Is there evidence or the potential for evidence on understanding or determining one's intelligence (or intellectual potential) by merely looking at their genes?
A: Eric Green, M.D., Ph.D.: Intelligence is a complicated concept, with many things contributing to one's intelligence (genetics, environment, nutrition, schooling, etc.). Genes play a role, but these other factors are critically important as well. Meanwhile, we really don't know know which genes are the critical ones, and there are likely hundreds or more that are relevant. In short, we are no where near being able to look at someone's genes and say anything intelligent about their intelligence.
Q: American History HS in NJ (n/a grade teacher): Somewhat silly question - now that we know that cows share 80% of our DNA (which is more than rats or mice) - will there be building of some seriously new larger labs to house cows as our new lab subjects?
A: Michael Dougherty, PhD: Probably not. Good model organisms for genetics must be inexpensive, easy to care for, and reproduce rapidly, and cows don't fit the bill. Still, the cow genome will allow cattle breeders to be more efficient with their selective breeding.
Q: American History HS in NJ (n/a grade teacher): Our classroom houses the Human Genome Landmarks poster which contains a picture of each chromosome with selected genes, traits and disorders - there are a ton of them! We're wondering how many were not included?
A: Donna Krasnewich, M.D., Ph.D.: This is a great question. As you can tell from your poster there are 23 pairs of chromosomes that carry the DNA of the human genome, 46 chromosomes total. The current thought is that there are about 20,000 genes in the human genome. We know what some of them do, others we don't. There is a wonderful data base on line, called the Online Mendelian Inheritance in Man, or OMIM, that details what we know about the genes. Check out this website for facts about the genome and disease http://www.ncbi.nlm.nih.gov/Omim/mimstats.html. This database tells us that there are over 12,000 genes with known sequence. 373 genes with a phenotype, or known clinical feature or disease associated with it. There are probably hundreds more where there is not quite enough data to fit into this category. In OMIM there are then listed diseases expected to have a genetic basis but scientists have not figured out which gene. There is plenty of work to do!
Q: American History HS in NJ (n/a grade teacher): I've just read that the cow genome has been completely mapped out. Was it a surprise to see that their total number of genes averaged only about 2,000 or so less than humans?
A: David Bodine, M.D., Ph.D.: That was no surprise. In fact, I think that as the cow genome is more worked out, we'll find a few more. When the first human sequence came out we were expecting a MUCH larger number of genes. Some of this was because there are a lot of proteins, but now we know that one gene can code for many proteins. The other reason was arrogance, if yeast and worms have 3-5000 genes, and flies have 14,000, the humans had to have many more. However, this is not correct. It is not haw many genes you have, it is how they work together that make a cow a cow and a human a human.
This blog is created by the DNA Lady, your local DNA collection expert in Metuchen, NJ. Call 732-632-8820 for information about available DNA tests.
You may find advertisements about DNA testing for immigration purposes all over the internet, ethnic or community newspapers and other media. However, in order for a DNA test to be accepted by a U.S. agency, ie, United States Customs and Immigration Services (USCIS), the National Visa Center in Vermontt, or the U.S. Embassy located in your country of origin, the DNA testing laboratory has to be accredited by American Association Blood Banks (AABB). The first question to ask your DNA collection facility is "what accreditations does their laboratory carry"? Do not pay good money for a DNA test that is not accepted as legally admissible in U.S. government offices - CHECK ACCREDITATIONS FIRST! Most US laboratories that offer DNA testing, have the ability to arrange DNA sample collection in foreign countries as well. Your family (beneficiaries) must have their DNA collected at a U.S. Embassy approved laboratory in your country of origin, who will then forward the sample to the US laboratory that carries the proper accreditations for analysis and comparison to the your sample (Sponsor). Check your community listings for a local DNA collector who can assist you through the DNA collection process and is knowledgable in working with Embassy approved foreign (non-USA) laboratories.
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UNQUOTE FROM THE INTERNET
PATERNITY TESTING - IT'S NOT JUST FOR PARENTS
ANYMORE
The unmarried birth rate is at an all-time
high in the United States, topping out at in confirmed statistics at 36.8% in 2006 and possibly as high as 40% in 2008. Social and
governmental agencies alike are coping with establishing paternity for
children. However, there is a growing
group that is affected by the issue of paternity that is being overlooked -
grandparents.
According to AARP, nearly 6 million
children are raised in households headed by grandparents or other relatives;
2.5 million of these children are without parents in the household at all,
leaving their care and upbringing to their grandparents or other
relatives. In light of the high
out-of-wedlock birth rate, some grandparents must take an extra step and
establish their biological relationship through DNA testing in order to gain
legal guardianship or visitation rights to their grandchild.
There are also other, little-known
situations that the grandparent generation is faced with in relation to their
family status. They may have to
establish paternity for reasons such as:
q Helping
their son or daughter, who may have a child born outside of a marriage to
determine paternity for the completion of the Acknowledgement of Paternity as
quickly as possible. Many grandparents
do not want to wait for state testing because it can take weeks and months to
prove or disprove paternity. They want
to know whether or not to bond with the grandchild to avoid future family
dysfunction.
q Establishing
paternity if the father is deceased, yet his name is not on the birth
certificate. Helping the mother
establish paternity will allow her to seek social security or military child-survivor
benefits on behalf of the child, while affording grandparents the proof they
need to establish legal visitation rights.
q Establishing
paternity in situations where the grandchild may be placed in fostercare and
preference is given to kinship support.
Grandparents may need to prove their biological relationship to the
child to take on the role as the legal guardian or foster parent.
"The needs of grandparents in
today's society and culture are often overlooked. Where parents are offered the opportunity to
establish paternity through the state at either no cost or a minimal fee
through the child support enforcement program, grandparents are usually not
afforded this option if they must take on the role as the parent," states Mary
C. Sullivan, owner of the local DNA Services of America franchise office. "Many times this population does not know
where to turn for guidance in these situations, and it is our duty to educate
them and relevant organizations in our communities that we are here to help
grandparents get answers through various testing options."
Choosing
a reliable paternity testing facility
is as important as choosing the right lifetime partner. Besides the
possible "clerical" errors mentioned in the below Raleigh, NC
newspaper, some laboratories and collectors do not carry the proper
accreditation and therefore the results are less reliable. Non-accredited DNA laboratories have been known to test less
genetic systems. The rule of thumb in the DNA testing industry is to
beware of tests results that do not provide a probability of paternity equal to
or greater than 99%.
Excerpt
Raleigh,
NC News & Observer
RALEIGH, N.C., April
13 (UPI) -- A North Carolina man said a clerical error following a paternity
test nearly resulted in his making child support payments for a child that he
did not father.
Charles Moody, 44, of
Raleigh, said he took the paternity test after an ex-girlfriend claimed he was
the father of her child and he became suspicious of her claim because of the
time line of the baby's birth, the Raleigh (N.C.) News & Observer reported
Monday.
However, Moody said
he was prepared to start child support payments after Wake County Child Support
Enforcement sent him a letter reading: "Enclosed is a copy of the
paternity test result which shows a probability of 99.99 percent that you are
the biological father."
Moody said he
eventually double-checked the letter and discovered that the test results,
which were stapled to the letter, stated that the "results indicate that
Charles Moody is not the biological father."
Moody said he
contacted the department and received another letter five days later saying
that the case had been dismissed.
"How many people
don't bother to look at the test?" he asked. "Can you imagine how
many people this has happened to?"
Lillian Overton, Wake
County child support director, said the incident was the result of an employee
mistakenly pushing a computer key confirming paternity rather than the key that
would rule it out.
"Trust me,"
she said, "that is not a common error."
As you and your partner prepare to start your family or perhaps you are having your second or third child, there are so many advances in technology today to insure you have a safe and uneventful delivery. Usually with advanced age of the mother, genetic counseling is advised. However, it is also in order to consult with a geneticist if you know of family predisposition to genetic disorders. A geneticist can help you with questions about genetic disorders in your family line. Here below are some terms to become familiar with before your first visit.
Abdominal Wall Defect: An abnormal opening in the abdominal wall structures of the
fetus near where the umbilical cord inserts into the fetal abdomen and through
which the some of the abdominal contents protrude out.
Alphafetoprotein (AFP): A substance made by the fetus that is present in
amniotic fluid and maternal blood. AFP levels are measured during pregnancy to
screen for neural tube defects and abdominal wall defects.
Amniocentesis: A prenatal diagnostic procedure done by inserting a thin
needle through the woman's abdomen to obtain a small amount of amniotic fluid.
The fluid is used to perform prenatal testing including chromosome analysis,
AFP measurement and, on occasion, other genetic tests.
Amniotic Fluid: The watery fluid that surrounds the fetus. The fluid is
made by the fetus and contains cells on which genetic testing can be performed.
Anencephaly: A neural tube defect that is usually fatal, in which there is
an opening in the skull of the fetus and brain tissue is missing.
Autosomal Recessive: A type of genetic inheritance in which both parents
must be carriers in order for a child to have the condition.
Autosome: Any chromosome other than the sex chromosomes.
B
Birth Defect: An abnormality present at birth, such as Down syndrome or spina
bifida. Birth defects can have many different causes. Not all birth defects can
be detected by prenatal genetic testing or ultrasound examination.
Bloom Syndrome: A rare autosomal recessive disease associated with growth
problems, an increased risk of cancer and shortened life span. The disease is
more common in individuals of Ashkenazi Jewish descent.
C
Canavan Disease: A severe autosomal recessive disease that causes mental
retardation, motor skill and feeding problems, and death early in childhood.
The disease is more common in individuals of Ashkenazi Jewish descent.
Carrier: A person who has one normal copy of a gene and one altered gene. A
carrier is usually not affected with the genetic condition, but has an
increased risk for having an affected child.
Carrier Testing: Genetic testing designed to detect whether or not a person
is a carrier for a genetic disease. This term often refers to DNA testing for a
genetic disease. This type of test is often performed on a blood sample.
Chorionic Villi Sampling (CVS):
A prenatal diagnostic procedure usually done between 10 and 12 weeks of a
pregnancy, in which a small sample of developing placental tissue is obtained.
The tissue can be obtained either by inserting a thin tube through the woman's
cervix or a thin needle through the woman's abdomen. This placental tissue has
cells that can be used for genetic testing.
Chromosome: Structures inside every cell that contain thousands of genes. A
human cell contains 46 chromosomes (23 pairs), half from the egg and half from
the sperm.
Chromosome Abnormality: If all or part of a chromosome is missing or
duplicated, the missing or extra genes usually cause serious birth defects.
Cystic Fibrosis (CF): An autosomal recessive disease in which thick mucous
builds up in the lungs, gastrointestinal tract and reproductive systems. This
build-up leads to pneumonia, diarrhea, poor growth, infertility and shortened
lifespan. The disease is most common in individuals of Caucasian and Ashkenazi
Jewish descent.
D
DNA (deoxyribonucleic
acid): The
chemical material or blueprint packaged within the genes that is passed from
one generation to the next. DNA determines the structure and function of all
living things.
Down Syndrome: A condition caused by an extra copy of the chromosome #21
that leads to mental retardation (usually mild to moderate), heart defects and
characteristic facial features.
E
Ethnic Background (ethnicity): A race or a family's national origin.
F
Familial Dysautonomia: A rare autosomal recessive disease that affects the nervous
system and causes temperature regulation problems, unstable blood pressure,
pain insensitivity, vomiting, frequent pneumonia and poor growth. Typically, it
is not associated with mental retardation. The disease is most common in
individuals of Ashkenazi Jewish descent.
Fanconi Anemia C: An autosomal recessive disease that causes early
childhood anemia, growth problems, birth defects and cancers. The disease is
most common in individuals of Ashkenazi Jewish descent.
Fetus: The term used to describe the developing baby between three months
of pregnancy to birth.
Fragile X Syndrome: A disorder caused by a gene located on the X
chromosome. Fragile X syndrome is the most common cause of inherited mental
retardation and autism. Both males and females can be affected with fragile X
syndrome or can carry the gene but not show any symptoms.
G
Gaucher Disease: An autosomal recessive condition that causes fatigue, an
enlarged liver and spleen, easy bruising and bleeding, bone pain and/or
fractures. In the most severe form (which is rare), the brain and nervous
system are also involved. The disease is most common in individuals of
Ashkenazi Jewish descent.
Gene (and altered gene): A unit of genetic information made of DNA that is
a "blueprint" for the structure and functioning of cells. Human beings have
over 30,000 different genes. An altered gene, also sometimes called a mutation,
is a permanent change in the gene that can alter its ability to function
properly and lead to genetic diseases.
Genetic Counselor: A health
care professional trained in the field of genetics who reviews a person's family
and medical history and determines the risks for possible diseases or
conditions. Genetic counselors explain the benefits, risks and limitations of
testing options and procedures and facilitate patient decision-making regarding
these options.
Genetic Disease: A condition caused by a change in a gene or many genes.
While many diseases may have genetic factors involved, a genetic disease
usually refers to something that is hereditary or passed from generation to
generation.
Gestational Age: The age of the developing fetus.
Glycogen Storage Disease Type 1a (GSD1a): An autosomal recessive disorder
caused by a problem in the enzyme responsible for the release of glucose from
glycogen. Affected individuals may experience low blood sugars, growth
retardation, enlarged liver and bleeding disorders.
H
Hemoglobin: A chemical in blood that delivers oxygen to cells.
Hemoglobin Disorder (hemoglobinopathy): A disorder in which the structure
or shape of hemoglobin is changed and, as a result, has its function affected.
Examples of hemoglobin disorders are alpha or beta thalassemia and sickle cell
anemia. Hemoglobin disorders are more commonly found in individuals of African,
Middle Eastern, Mediterranean, Asian and certain Hispanic ethnic backgrounds.
Hereditary: Passed from generation to generation.
M
Maternal Age: The age of the mother of a pregnancy, usually her age at
delivery. The risks of having a pregnancy with a chromosome abnormality
increase as women age.
Maternal Serum Screening: A blood test done during pregnancy that
determines whether there is an increased risk for birth defects such as Down syndrome
or spina bifida.
Mucolipidosis Type IV: An autosomal recessive disease that affects the
brain and nervous system. Symptoms begin in first year of life and consist of
visual problems and severe mental retardation. The disease is most common in
individuals of Ashkenazi Jewish descent.
N
Neural Tube: The structure formed in the first six weeks of pregnancy that
forms the spinal column which surrounds the spinal cord and brain.
Neural Tube Defect: A birth defect that involves an opening anywhere in the
spinal column from the skull to the bottom of the spine.
Niemann-Pick Type A: An autosomal recessive disease that causes poor
growth, mental retardation, physical problems and death early in childhood. The
disease is most common in individuals of Ashkenazi Jewish descent.
P
Placenta: The structure attached to the wall of the uterus in which the fetus is growing. It has many blood vessels to supply nutrients to the fetus through the umbilical cord.
S
Sex Chromosomes: The X and Y chromosomes. A fetus with an XY set of chromosomes
is male and a fetus with an XX set is female.
Sickle Cell Anemia: An autosomal recessive anemia caused by abnormal
hemoglobin that makes red blood cells sickle shaped.
Soft Marker (soft sign): Sometimes seen on an ultrasound. Subtle
abnormalities that are associated with an increased risk for certain chromosome
abnormalities or other birth defects.
Spina Bifida: A neural tube defect that involves an opening anywhere along
the spinal column.
T
Tay-Sachs Disease: A disease caused by a missing enzyme that leads to neurological
deterioration and death in early childhood. The disease is most common in individuals
of Ashkenazi Jewish descent.
Thalassemia: An autosomal recessive disease caused by abnormal hemoglobin
leading to anemia.
Trisomy: A third or extra copy of a chromosome.
Trisomy 18: A severe chromosome abnormality caused by an extra chromosome
18. Most fetuses with trisomy 18 have birth defects and babies with this
condition usually die within their first year.
U
Ultrasound (sonogram): A method of using sound waves to visualize the anatomy of a fetus and the surrounding amniotic fluid and placenta. Measurements taken from the ultrasound help determine the gestational age of the fetus, as well as find certain physical birth defects or abnormalities. Not all birth defects can be detected by ultrasound.
However, after all is said and done, families are finding that they lack documentation or paperwork in order to participate in the benefits set up by the deceased. Proof of a biological relationship whether it be between a child, parent, sibling or grandparents is easily confirmed through non-invasive DNA testing. Having access to the deceased DNA profile often becomes the obstacle in obtaining survivor benefits.
In the case, where the deceased DNA is not readily available, proof of biological relationships can be obtained via FTA Blood Stain Cards usually collected by a Medical Examiner's office. Often times, other family members may have to submit to the DNA test in order to prove the biological relationship.
Example:
A single man dies and leaves 3 children but never signed an Acknowledgement of Paternity during his lifetime. The mother of the 3 children can ask a male relative of the deceased to submit to a DNA test (which are usually non-invasive buccal swabs) and that DNA can then be compared to the surviving children in order to prove the biological relationship exists. If the children are all male - it is easier since they will carry the same Y-Chromosome.
Grandparents, aunts and uncles can be used to establish family relationships as well.
If it is known at the time of death, that proof is needed, a funeral home can arrange for a DNA collection of the deceased with permission of the next of kin. Funeral directors, managers, doctors and spiritual advisers should all be aware of the family's circumstances and if a DNA test would help them avoid delay in receiving benefits. Those closest to the deceased may not be thinking of all the details and so it is encumbent on those around the family to help and provide guidance on these issues.
If it has been a while since you updated your estate plan, now is the time to review your plan and update accordingly. Failing to plan your estate may increase tax liability to your heirs. Lacking a written plan allows the state courts to split up your assets; assign guardians for minor children; chose a court appointed executor for your estate. If you do not have a settlement plan for your final expenses the cost may increase due to administrative expenses and unnecessary taxes imposed by the State. The tax laws are ever changing, find a CPA that is well versed in your State's estate and tax planning strategies. Here are a few tips to consider:
· Estate Tax Exemption in 2008 is $2,000,000 per person. This will increase to $3,500,000 in 2009 and then be repealed in 2010.
· Lifetime Gift Tax Exemption is capped at $1,000,000 per person.
· Consider giving a Gift to your grandchild in the form of tuition or medical expenses
While you are updating your estate plan, check to see that your beneficiaries have been updated as well. Has your family tree changed at all? Have there been any new births or deaths since you last recorded your estate plan? Do relatives by marriage need to be included in your estate plan? Is there perhaps a relative that you have a doubt about the biological relationship? Today's gold standard in confirmation of biological confirmation is DNA testing. DNA testing technology has improved to the point that results from an accredited laboratory can be obtained in as fast as 3 business days depending on the relationship being tested.
Do you think in the future that your DNA profile would be a useful tool for family members? Since we do not know how the DNA industry will be eventually regulated, it is not suggested that you allow anyone else (laboratories) to store your DNA. However, a private genetic profile can be obtained and stored confidentially with other important documents. Contrary to all the hype, obtaining a private genetic profile is non invasive and not expensive. Your genetic profile may provide information to family members in the future, the benefits of which we have not yet identified.
Whether you are discussing assets, children, inheritance, family business, or final expenses, having an Estate Plan in place is essential to safeguard your loved ones' future. Having your DNA profiled, is using today's technology to insure your family's assets stay within the family. If you spent the better part of your life creating your family's wealth, don't let it go to ruin or to unrelated individuals claiming to be entitled.
Neonatal-Perinatal
Morris
Cohen • Newark • Newark Beth Israel Medical Center; Beth Israel Hospital,
Passaic; Clara Maass Medical Center, Belleville; Muhlenberg Regional Medical
Center, Plainfield; Trinitas Hospital-Williamson Street Campus, Elizabeth; JFK
Medical Center, Edison • 973-926-7203
Michael
A. Graff • Neptune • 732-776-4283
Frank
P. Manginello • Ridgewood • 201-447-8388
Lawrence
M. Skolnick • Morristown • Morristown Memorial Hospital; Overlook Hospital,
Summit; Saint Clare's Hospital, Denville; Chilton Memorial Hospital, Pompton
Plains • 973-971-5022
Shyan
C. Sun • Livingston • Saint Barnabas Behavioral Health Center, Toms River •
973-322-5437
Obstetrics & Gynecology
Stephen
E. Crane • West Orange • Saint Barnabas Medical Center, Livingston •
973-731-7707 • infertility
Doreen
E. Degraaff • Livingston • Saint Barnabas Medical Center, Livingston •
973-740-1330
Gary
C. DeGrande • Montclair • Mountainside Hospital, Montclair • 973-744-2226
Richard
De Marsico • Montclair • Saint Barnabas Medical Center, Livingston;
Mountainside Hospital, Montclair • 973-744-2226
Karen
A. Dias-Martin • Glen Ridge • Mountainside Hospital, Montclair; Saint Barnabas
Medical Center, Livingston • 973-743-8585
Mark
Allen Fisher • Montclair • Mountainside Hospital, Montclair; The University
Hospital, Newark • 973-655-9050
Matthew
D. Iammatteo • Morristown • Morristown Memorial Hospital • 973-971-9950
Daria
Anna Klachko • West Orange • 973-325-5670
Winsome
J. Parchment • Maplewood • Mountainside Hospital, Montclair; Overlook Hospital,
Summit; The University Hospital, Newark • 973-313-2501
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