Lecture 9: Human Genetics | Video Lectures | Introduction …

I want to go back a second to the end of last time because in the closing moments there, we, or at least I, got a little bit lost, and where the plusses and minuses were at a certain table.

And, I want to go back and make sure we’ve got that straight.

We were talking about a situation where we were trying to use genetics, and the phenotypes that might be observed in mutants to try to understand the biochemical pathway because we’re beginning to try to unite the geneticist’s point of view who looks only at mutants, and the biochemist’s point of view who looks at pathways and proteins.

And, I had hypothesized that there was some biochemists who had thought up a possible pathway for the synthesis of arginine that involved some precursor, alpha, beta, gamma, where alpha is turned into beta; beta is turned into gamma; and gamma is used to turn into arginine. And, hypothetically, there would be some enzymes: enzyme A that converts alpha, enzyme B that converts beta, and enzyme C that converts gamma.

And, we were just thinking about, what would the phenotypes look like of different arginine auxotrophs that had blocks at different stages in the pathway. If I had an arginine auxotroph that had a block here because let’s say a mutation in a gene affecting this enzyme, or at a block here at a mutation affecting, say, the gene that encodes enzyme C, how would I be able to tell very simply that they were in different genes? Last time, we found that we could tell they were in different genes by doing a cross between a mutant that had the first mutation, and a mutant that had the second mutation, and looking at the double heterozygote, right? And, if in the double heterozygote you had a wild type or a normal phenotype, then they had to be in different genes, OK? Remember that?

That was called a test of complementation.

That was how we were able to sort out which mutations were in the same gene, and which mutations were in different genes.

Now we can go a step further. When we’ve established that they’re in different genes, we can try to begin to think, how do these genes relate to a biochemical pathway?

I wanted to begin to introduce, because it’ll be relevant for today, this notion: so, suppose I had a mutation that affected enzyme A so that this enzymatic step couldn’t be carried out.

Such a mutant, when I just try to grow it on minimal medium won’t be able to grow. If I give it the substrate alpha, it doesn’t do it any good because it hasn’t got the enzyme to convert alpha. So, given alpha, it won’t grow. But if I give it beta, what will happen? It can grow because I’ve bypassed the defect. What about if I give it gamma? Arginine?

Now, if instead the mutation were affecting enzymatic step here, then if I give it on minimal or medium but it can grow on gamma. What about this last line?

If I have a mutation and the last enzymatic step, minimal medium can’t grow with alpha, can’t grow with beta, can’t even grow with gamma. But, it can grow with arginine because I’ve bypassed that step. So, I get a different phenotype, the inability to grow even on gamma, but I can grow on arginine. Now, here, if I put together those mutants and make a double mutant, a double homozygote, let’s say, that’s defective in both A and B, which will it look like? Will it be able to grow on minimal medium? Will it be able to grow on alpha?

Will it be able to grow on beta?

Will it be able to grow on gamma and arginine? What about if I have a double mutant in B and C, minus, minus, minus, minus, plus? So this looks the same as that. This looks the same as that.

And so, by looking at different mutant combinations, I can see that the phenotype of B here is what occurs in the double mutant. So, this phenotype is epistatic to this phenotype.

Epistatic means stands upon, OK? So, phenotypes, just like phenotypes can be recessive or dominant, you can also speak about them being epistatic. And epistatic means when you have both of two mutations together at the epistatic then one of them is epistatic to the other, perhaps.

It will, in fact, be the one that is present.

So, this is not so easy to do in many cases because if I take different kinds of mutation affecting wing development, and I put them together in the same fly, I may just get a very messed up wing, and it’s very hard to tell that the double mutant has a phenotype that looks like either of the two single mutants.

But sometimes, if they fall very nicely in a pathway where this affects the first step, this affects the second step this affects the third step, this affects the fourth step, then the double mutant will look like one of those, OK? And, that way you can somehow order things in a biochemical pathway. Now, notice, this is all indirect, right? This is what geneticists did in the middle of the 20th century to try to figure out how to connect up mutants to biochemistry.

Actually, that’s not true. It’s what geneticists still do today because you might think that Well, we don’t need to do this anymore, but in fact geneticists constantly are looking at mutants and making connections trying to say, what does this double combination look like? What does that double combination look like, and how does that tell us about the developmental pathway, which cell signals which cell? This turns out to be one of the most powerful ways to figure out what mutations do by saying the combination of two mutations looks like the same as one of them, allowing you to order the mutations in a pathway.

And, there’s no general way to grind up a cell and order things in a pathway. Genetics is a very powerful tool for doing that.

Now, there are some ways to grind up cells and order things, but you need both of these techniques to believe stuff.

Anyway, I wanted to go over that, because it is an important concept, the concept of epistasis, the concept of relating mutations to steps and pathways, but what I mostly want to do today is go on now to talk about genetics not in organisms like yeast or fruit flies or even peas, but genetics in humans.

So, what’s different about genetics in humans than genetics in yeast?

You can’t choose who mates with whom. Well, you can.

I mean, in the days of arranged marriages maybe you couldn’t, but you can choose who mates with whom, but only for yourself, right? What you can’t do is arrange other crosses in the human population as an experimentalist. Now, your own choice of mating, unfortunately or fortunately perhaps produces too few progeny to be statistically significant. As a parent of three, I think about what it would take to raise a statistically significant number of offspring to draw any conclusions, and I don’t think I could do that.

So, you’re absolutely right. We can’t arrange the matings that we want in the human population. So, that’s the big difference.

So, can we do genetics anyway? How do we do genetics even though we can’t arrange the matings the way we’d like to? Sorry?

Well, family trees. We have to take the matings as we find them in the human population. You can talk to somebody who might have an interesting phenotype, I don’t know, attached earlobes, or very early heart disease, or some unusual color of eyes, and begin to collect a family history on that person.

It’s a little bit of a dodgy thing because you might just be relying on that person’s recollection. So, if you were really industrious about this, you’d go check out each of their family members and test for yourself whether they have the phenotype. People who do serious human genetic studies often go and do that. They have to go confirm, either by getting hospital records or interviewing the other members of the family, etc. So, this is not as easy as plating out lots of yeasts on a Petri plate.

And then you get pedigrees. And the pedigrees look like this.

Here’s a pedigree. Tell me what you make of it.

Now, symbols: squares are males, circles are females by convention, a colored in symbol means the phenotype that we’re interested in studying at the moment. So, in any given problem, somebody will tell you, well, we’re studying some interesting phenotype. You often have an index case or a proband, meaning the person who comes to clinical attention, and then you chase back in the pedigree and try to reconstruct.

So, suppose I saw a pedigree like this.

What conclusions could I draw? Sorry? Recessive, sex link trait; why sex link trait? So, let’s see if we can get your model up here. You think that this represents sex-linked inheritance. So, what would the genotype be of this male here? Mutant: I’ll use M to denote a mutant carried on the X chromosome, and a Y on the opposite chromosome.

What’s the genotype of the female here?

So, it’s plus over plus where I’ll use plus to denote the gene carried on the normal X chromosome. OK, and then what do you think happened over here? So, mutant over plus, you mate to this male who is plus over plus. Why is that male plus over plus? Oh, right, good point.

It’s not plus over plus. It’s plus over Y. Why is that male plus over Y as opposed to mutant over Y?

He’d have the mutant phenotype. So, he doesn’t have the mutant phenotype so he can infer he’s plus over Y. OK, and then what happens here? Mutant over Y; this is plus over Y. How did this person get plus over Y? They just the plus for mom, and the daughters, Y from dad, and a plus from mom. That’s cool. Now, what about the daughters there? They’re plus over plus, or M over plus? Is one, one, and one the other? Well, in textbooks it’s always plus over plus and M over plus, but in real life? We don’t know, right? So, this could be plus over plus, or M over plus, we don’t know, OK? Now, what about on this side of the pedigree here?

What’s the genotype here? Plus over Y, OK.

Why not mutant over Y? Because if they got the mutant, it would have to come from the, OK, so here, plus over plus, and then here, everybody is normal because there’s no mutant allele segregated.

Yes? Yeah, couldn’t there just be recessive? I mean, it’s a nice story about the sex link but couldn’t it be recessive? So, walk me through it being recessive. M over plus, plus over plus. Wait, wait, wait, hang on. Could this be M over plus, and that person be affected?

It’s got to be M over M, right so mutants over mutants but that’s possible. Yeah, OK. So, what would this person be? Plus over plus, let’s say, come over here. Now, what would this person be? M plus. It has to be M plus because, OK, and what about this person here? M plus, now what about the offspring? So, one of them is M over M, plus over plus, and two M pluses. Does it always work out like that?

[LAUGHTER] No, it doesn’t always work out like that at all.

So, I’m just going to write plus over plus here just to say, tough, right? In real life, it doesn’t always come out like that.

What about over here? It would have to be plus over plus.

Why not? It doesn’t because it could be M over plus and have no effect at offspring by chance, right? But, you were going to say it’s plus over plus because in the textbooks it’s always plus over plus in pictures like this, right? And then, it all turns out to be pluses and mutants, and pluses and mutants, and all that, right? Well, which picture’s right?

Sorry? You don’t know. So, that’s not good. There’s supposed to be answers to these things. Could either be true? Which is more likely? The one on the left? Why? More statistically probable, how come? Because it is. It may not quite suffice as a fully complete scientific answer though.

Yes? Yep. Well, but I have somebody who is affected here. So, given that I’ve gotten affected person in the family — yeah, so it is actually, you’re right, statistically somewhat less likely that you would have two independent M’s entering the same pedigree particularly if M is relatively rare.

If M is quite common, however, suppose M were something was a 20% frequency in the population, then it actually might be quite reasonable that this could happen. So, what would you really want to do to test this? Sorry? Well, if you found any females here maybe you’d be able to conclude that it was autosomal recessive because females never show a sex-linked trait. Is that true?

No, that’s not true. Why not? You’re right. So, you just have to be homozygous for it on the X. So, having a single female won’t, I mean, she’s not going to take that as evidence. Get an affected female and demonstrate that all of her male offspring show the trait. Cross her with, wait, wait.

This is a human pedigree guys [LAUGHTER]. Whew! There are issues involved here, right? You could introduce her to a normal guy, [LAUGHTER] but whether you can cross her to a normal guy is not actually allowed. So, you see, these are exactly the issues in making sense out of pedigrees like this.

So, what you have to do is you have to collect a lot of data, and the kinds of characteristics that you look for in a pedigree, but they are statistical characteristics, and notwithstanding — So, this could be colorblindness or something, but notwithstanding the pictures in the textbook of colorblindness and all that, you really do have to take a look at a number of properties. What are some properties?

One you’ve already referred to which is there’s a predominance in males if it’s X-linked. Why is there a predominance in males? Well, there’s a predominance in males because if I have an X over Y and I’ve got a mutation paired on this X chromosome, males only have to get it on one.

Females have to get it on both, and therefore it’s statistically more likely that males will get it. So, for example, the frequency of colorblindness amongst males is what? Yeah, it’s 8-10%, something like that. I think it’s about 8% or so.

And, amongst females, well, if it’s 8% to get one, what’s the chance you’re going to get two?

It’s 8% times 8% is a little less than 1% right?

It’s 0.64%, OK, in females. So, we’ll just go 8% squared. So in males, 8% in females, less than one percent.

So, there is a predominance in males of these sex-linked traits. Other things: affected males do not transmit the trait to the kids, in particular do not transmit it to their sons, right, because they are always sending the Y chromosomes to their songs. Carrier females transmit to half of their sons, and affected females transmit to all of their sons. And, the trait appears to skip generations, although I don’t like this terminology.

It skips generations. These are the kinds of properties that you have. So, hemophilia, a good example of this, if I have a child with hemophilia, male with hemophilia, would you be surprised if his uncle had hemophilia? Which uncle would it be, maternal or paternal?

The maternal uncle would have hemophilia most likely.

It’s always possible it could be paternal. This is the problem with human genetics is you’ve got to get enough families so the pattern becomes overwhelmingly clear, OK, because otherwise, as you can see with small numbers, it’s tough to be absolutely certain.

So, these are properties of X linked traits.

How about baldness? Is baldness, that’s a sex-linked trait? How come? You don’t see a lot of bald females.

Does that prove it’s sex linked? Sorry? Guys are stressed more.

[LAUGHTER] Is there evidence that it has anything to do with stress?

Actually, it has to do with excess testosterone it turns out, that high levels of testosterone are correlated with male pattern baldness, but does the fact that males become bald indicate that this is a sex linked trait? No. Just because it’s predominant in male, we have to check these other properties.

Is it the case that bald fathers tend to have bald sons?

Any evidence on this point? Common-sensical evidence from observation? It’s pretty clear. It’s very clearly not a sex-linked trait. It’s a sex-limited trait, because in order to show this you need to be male because the high levels of testosterone are not found in females even if they have the genotype that might predispose them to become bald if they were male. So, it actually is not a sex-linked trait at all, and it’s very clear that male pattern baldness does run in families more vertically. So, you’ve got to be careful about the difference between sex linked and sex limited, and sex linked you can really pick out from transmission and families.

OK, here’s another one. New pedigree.

She married twice here. OK, what do we got?

Yep? She married again. She married twice. She didn’t have any offspring the second time. But that happens, and you have to be able to draw it in the pedigree.

She’s entitled, all right. OK, so she got married again, no offspring from this marriage. That’s her legal symbol. You guys think that’s funny. It’s real, you know?

OK, that doesn’t mean she’s married to two people at the same time.

This is not a temporal picture. So, what do we got here? Yep?

Sorry, of this person? Well, I’m drawing them as an empty symbol here, indicating that we do not think they have the trait.

They’re not carriers. How do you propose to find that out?

Look at the children. Well, the children are affected. They could be carriers. The data are what they are.

You’ve got to interpret it. Does this person have to be a carrier? What kind of trait do you think this is?

Dominant? Does this look like autosomal dominant to you?

Yep? Oh, not all the kids have the trait in the first generation, and if this was dominant, they’d all have it? What’s a possible genotype for this person?

Mutant over plus. And, these kids could be mutant over plus.

This could be plus over plus, and this could be plus over plus, mutant over plus, plus over plus, mutant over plus, and plus over plus would be one possibility. On average, what fraction of the kids should get the trait? About half the kids, right? So, let’s see what characteristics we have here. We see the trait in every generation.

On average, half the kids get the trait.

Half of the offspring of an affected individual are affected.

What else? Males and females? Roughly equal in males and females?

Sorry? One, two, three, four, five to two. So, it’s a 5:2 ratio?

Oh, in the offspring it’s a 2:1 ratio. So, this is like Mendel.

You see this number and you say, OK, 2:1. Isn’t that trying to tell me something? Not with six offspring. That’s the problem is with six offspring, 2:1 might be trying to tell you 1:1.

And it is. If I had a dominantly inherited trait where there’s a 50/50 chance of each offspring getting the disease and it was autosomal, not sex linked, there would be very good odds of getting two males and one female because it happens: flip coins and it happens. So, you have to take that into account, and here you see what else we have. Roughly equal numbers of males and females, they transmit equally, and unaffecteds never transmit.

This would be the classic autosomal dominant trait.

Right, here this mutant would go mutant over plus, mutant over plus, plus over plus, mutant over plus, plus over plus, plus over plus, and you’d see here that three out of the five here, and one, two, three out of the six there: that’s a little more than half but it’s small numbers here, right? This is a classic autosomal dominant as in the textbooks. Yes? Turns out not to make too much of a difference. It turns out that there’s lots of genome that’s on either. And so, it is true that males are more susceptible to certain genetic diseases.

So, it’ll be some excess, but it won’t matter for this.

Now, in real life it doesn’t always work so beautifully.

We’ll take an example: colon cancer. There are particular autosomal dominant mutations here that cause a high risk of colon cancer.

People who have mutations in a certain gene, MLH-1, have about a 70% risk of getting colon cancer in their life.

But notice, it’s not 100%. You might have incomplete penetrance.

Incompletely penetrance means not everybody who gets the genotype gets the phenotype. Not all people with the M over plus genotype show the phenotype. Once you do that, it messes up our picture colossally, because, tell me, how do we know that this person over here is not actually M over plus.

Maybe they’re cryptic. They haven’t shown the phenotype.

And maybe, it’ll appear in the next generation. That’ll screw up everything. It screws up our rule about not transmitting through unaffected, it screws up the rule about not being shown in every generation, and it will even screw up our 50/50 ratio because if half the offspring get M over plus, but only 70% of that half show the phenotype, then only 35% of the offspring will show the phenotype. Unfortunately, this is real life.

The rest is here:

Lecture 9: Human Genetics | Video Lectures | Introduction …

Human Physiology/Genetics and inheritance – Wikibooks …


Genetics is the science of the way traits are passed from parent to offspring. For all forms of life, continuity of the species depends upon the genetic code being passed from parent to offspring. Evolution by natural selection is dependent on traits being heritable. Genetics is very important in human physiology because all attributes of the human body are affected by a persons genetic code. It can be as simple as eye color, height, or hair color. Or it can be as complex as how well your liver processes toxins, whether you will be prone to heart disease or breast cancer, and whether you will be color blind. Defects in the genetic code can be tragic. For example: Down Syndrome, Turner Syndrome, and Klinefelter’s Syndrome are diseases caused by chromosomal abnormalities. Cystic fibrosis is caused by a single change in the genetic sequence.

Genetic inheritance begins at the time of conception. You inherited 23 chromosomes from your mother and 23 from your father. Together they form 22 pairs of autosomal chromosomes and a pair of sex chromosomes (either XX if you are female, or XY if you are male). Homologous chromosomes have the same genes in the same positions, but may have different alleles (varieties) of those genes. There can be many alleles of a gene within a population, but an individual within that population only has two copies, and can be homozygous (both copies the same) or heterozygous (the two copies are different) for any given gene.

Genetics is important to medicine. As more is understood about how genetics affects certain defects and diseases, cures and treatments can be more readily developed for these disorders. The sequence of the human genome (approximately 3 billion base pairs in a human haploid genome with an estimated 20,000-25,000 protein-coding genes) was completed in 2003, but we are far from understanding the functions and regulations of all the genes. In some ways medicine is moving from diagnosis based on symptoms towards diagnosis based on genetics, and we are moving into what many are calling the age of personalized medicine.

Deoxyribonucleic acid (DNA) is the macromolecule that stores the information necessary to build structual and functional cellular components. It also provides the basis for inheritance when DNA is passed from parent to offspring. The union of these concepts about DNA allows us to devise a working definition of a gene. A gene is a segment of DNA that codes for the synthesis of a protein and acts as a unit of inheritance that can be transmitted from generation to generation. The external appearance (phenotype) of an organism is determined to a large extent by the genes it inherits (genotype). Thus, one can begin to see how variation at the DNA level can cause variation at the level of the entire organism. These concepts form the basis of genetics and evolutionary theory.

rotating animation of a DNA molecule.

A gene is made up of short sections of DNA which are contained on a chromosome within the nucleus of a cell. Genes control the development and function of all organs and all working systems in the body. A gene has a certain influence on how the cell works; the same gene in many different cells determines a certain physical or biochemical feature of the whole body (e.g. eye color or reproductive functions). All human cells hold approximately 30,000 different genes. Even though each cell has identical copies of all of the same genes, different cells express or repress different genes. This is what accounts for the differences between, let’s say, a liver cell and a brain cell . Genotype is the actual pair of genes that a person has for a trait of interest. For example, a woman could be a carrier for hemophilia by having one normal copy of the gene for a particular clotting protein and one defective copy. A Phenotype is the organisms physical appearance as it relates to a certain trait. In the case of the woman carrier, her phenotype is normal (because the normal copy of the gene is dominant to the defective copy). The phenotype can be for any measurable trait, such as eye color, finger length, height, physiological traits like the ability to pump calcium ions from mucosal cells, behavioral traits like smiles, and biochemical traits like blood types and cholesterol levels. Genotype cannot always be predicted by phenotype (we would not know the woman was a carrier of hemophilia just based on her appearance), but can be determined through pedigree charts or direct genetic testing. Even though genotype is a strong predictor of phenotype, environmental factors can also play a strong role in determining phenotype. Identical twins, for example, are genetic clones resulting from the early splitting of an embryo, but they can be quite different in personality, body mass, and even fingerprints.

Genetics (from the Greek genno = give birth) is the science of genes, heredity, and the variation of organisms. The word “genetics” was first suggested to describe the study of inheritance and the science of variation by prominent British scientist William Bateson in a personal letter to Adam Sedgwick, dated April 18, 1905. Bateson first used the term “genetics” publicly at the Third International Conference on Genetics (London, England) in 1906.

Heredity and variations form the basis of genetics. Humans apply knowledge of genetics in prehistory with the domestication and breeding of plants and animals. In modern research, genetics provide important tools for the investigation of the function of a particular gene, e.g., analysis of genetic interactions. Within organisms, genetic information is generally carried in chromosomes, where it is represented in the chemical structure of particular DNA molecules.

Genes encode the information necessary for synthesizing the amino-acid sequences in proteins, which in turn play a large role in determining the final phenotype, or physical appearance of the organism. In diploid organisms, a dominant allele on one chromosome will mask the expression of a recessive allele on the other. While most genes are dominant/recessive, others may be codominant or show different patterns of expression. The phrase “to code for” is often used to mean a gene contains the instructions about a particular protein, (as in the gene codes for the protein). The “one gene, one protein” concept is now known to be the simplistic. For example, a single gene may produce multiple products, depending on how its transcription is regulated. Genes code for the nucleotide sequence in mRNA and rRNA, required for protein synthesis.

Gregor Mendel researched principals of heredity in plants. He soon realized that these principals also apply to people and animals and are the same for all living animals.

Gregor Mendel experimented with common pea plants. Over generations of the pea plants, he noticed that certain traits can show up in offspring with out blending any of the parent’s characteristics. This is a very important observation because at this point the theory was that inherited traits blend from one generation to another.

Pea plant reproduction is easily manipulated. They have both male and female parts and can easily be grown in large numbers. For this reason, pea plants can either self-pollinate or cross-pollinate with other pea plants.

In cross pollinating two true-breeding plants, for example one that came from a long line of yellow peas and the other that came from a long line of green peas, the first generation of offspring always came out with all yellow peas. The following generations had a ratio of 3:1 yellow to green. In this and in all of the other pea plant traits Mendel observed, one form was dominant over another so it masked the presence of the other allele. Even if the phenotype (presence) is covered up, the genotype (allele) can be passed on to other generations.

Time line of notable discoveries

1859 Charles Darwin publishes “The Origin of Species”

1865 Gregor Mendel’s paper, Experiments on Plant Hybridization

1903 Chromosomes are discovered to be hereditary units

1906 The term “genetics” is first introduced publicly by the British biologist William Bateson at the Third International Conference on Genetics in London, England

1910 Thomas Hunt Morgan shows that genes reside on chromosomes, and discovered linked genes on chromosomes that do NOT follow Mendel’s law of independent allele segregation

1913 Alfred Sturtevant makes the first genetic map of a chromosome

1913 Gene maps show chromosomes contain linear arranged genes

1918 Ronald Fisher publishes On the correlation between relatives on the supposition of Mendelian inheritance – the modern synthesis starts.

1927 Physical changes in genes are called mutations

1928 Fredrick Griffith discovers a hereditary molecule that is transmissible between bacteria

1931 Crossing over is the cause of recombination

1941 Edward Lawrie Tatum and George Wells Beadle show that genes code for proteins

1944 Oswald Theodore Avery, Colin McLeod and Maclyn McCarty isolate DNA as the genetic material (at that time called transforming principle)

1950 Erwin Chargaff shows that the four nucleotides are not present in nucleic acid in stable proportions, but that some general rules appear to hold. (e.g., the nucleotide bases Adenine-Thymine and Cytosine-guanine always remain in equal proportions)

1950 Barbra McClintock discovers transposons in maize

1952 The Hershey-Chase experiment proves the genetic information of phages (and all other organisms) to be DNA

1953 DNA structure is resolved to be a double helix by James D. Watson and Francis Crick, with help from Rosalind Franklin

1956 Jo Hin Tjio and Albert Levan established the correct chromosome number in humans to be 46

1958 The Meselson-Stahl experiment demonstrates that DNA is semi-conservatively replicated

1961 The genetic code is arranged in triplets

1964 Howard Temin showed using RNA viruses that Watson’s central dogma is not always true

1970 Restriction enzymes were discovered in studies of a bacterium Haemophilus influenzae, enabling scientists to cut and paste DNA

1977 DNA is sequenced for the first time by Fred Sangr, Walter Gilbert, and Allan Maxam working independently. Sanger’s lab complete the entire genome of sequence of Bacteriophage

1983 Kary Banks Mullis discovers the polymerase chain reaction (PCR) enabling the easy amplification of DNA

1985 Alec Jeffreys discovers genetic finger printing

1989 The first human gene is sequenced by Francis Collin and Lap-Chee Tsui. It encodes the CFTR protein. Defect in this gene causes Cystic Fibrosis

1995 The genome of Haemophilus influenza is the first genome of a free living organism to be sequenced.

1996 Saccharomyces cerevisiae is the first eukaryote genome sequence to be released.

1998 The first genome sequence for a multicellular eukaryote, C. elegans is released.

2001 First draft sequences of the human genome are released simultaneously by the Human Genome Project and Celera Genomic

2003 (14 April) Successful completion of Human Genome Project with 99% of the genome sequenced to a 99.99% accuracy

2006 Marcus Pembrey and Olov Bygren publish Sex-specifics, male line trans-generational responses in humans, a proof of epigenetics

Transcription is the process of making RNA. In response to an enzyme RNA polymerase breaks the hydrogen bonds of the gene. A gene is a segment of DNA which contains the information for making a protein. As it breaks the hydrogen bonds it begins to move down the gene. Next the RNA polymerase will line up the nucleotides so they are complementary. Some types of RNA will leave the nucleus and perform a specific function.

Translation is the synthesis of the protein on the ribosome as the mRNA moves across the ribosome. There are eleven basic steps to translation.

1. The mRNA base sequence determines the order of assembling of the amino acids to form specific proteins.

2. Transcription occurs in the nucleus, and once you have completed transcription the mRNA will leave the nuecleus, and go into the cytoplasm where the mRNA will bind to a free floating ribosome, where it will attach to a small ribosomal subunit.

3. Methionine-tRNA binds to the nucleotides AUG. AUG is known as the start codon and is found at the beginning of each mRNA.

4. The complex then binds to a large ribosomal subunit. Methionine-tRNA is bound to the P site of the ribosome.

5. Another tRNA containing a second amino acid (lysine) binds to the second amino acid. Binding to the second condon of mRNA (on the A-site of the ribosome).

6. Peptidyl transferase, forms a peptide3 bond between the two amino acids (methionine and lysine)

7. The first amino tRNA is released and mRNA is translocated one codon carrying the second tRNA (still carrying the two amino acids) to the P site.

8. Another tRNA with attached amino acid (glutamine) moves into the A site and binds to that codon.

9. It will now form a peptide bond with lysine and glutamine

10. Now the tRNA in the P site will be let go, and mRNA is translocated one codon, (the tRNA with three amino acids) to the P site.

11. This will continue going until it reaches the stop codon (UAG) on the mRNA. Then this codon will tell it to release the polypeptide chain.

These are some good sites to visit

Select A the video of the Inner Life of a Cell. If you want to hear the descriptions in this process go to B web site and select the Inner Life: view the animation.

Children inherit traits, disorders, and characteristics from their parents. Children tend to resemble their parents especially in physical appearance. However they may also have the same mannerisms, personality, and a lot of the time the same mental abilities or disabilities. Many negatives and positives tend to “run in the family”. A lot of the time people will use the excuse “It runs in the family” for things that have alternative reasons, such as a whole family may be overweight, yes it may “run in the family” but it could also be because of all the hamburgers and extra mayo that they all eat. Or the fact that after they eat the hamburgers they all sit on the couch and don’t move for the rest of the evening. Children may have the same habits (good or bad) as their parents, like biting their nails or enjoying reading books. These things aren’t inherited they are happening because children imitate their parents, they want to be like mom or dad. Good examples are just as important as good genes.

A person’s cells hold the exact genes that originated from the sperm and egg of his parents at the time of conception. The genes of a cell are formed into long strands of DNA. Most of the genes that control characteristic are in pairs, one gene from mom and one gene from dad. Everybody has 22 pairs of chromosomes (autosomes) and two more genes called sex-linked chromosomes. Females have two X (XX) chromosomes and males have an X and a Y (XY) chromosome. Inherited traits and disorders can be divided into three categories: unifactorial inheritance, sex-linked inheritance, and multifactor inheritance.

Traits such as blood type, eye color, hair color, and taste are each thought to be controlled by a single pair of genes. The Austrian monk Gregor Mendel was the first to discover this phenomenon, and it is now referred to as the laws of Mendelian inheritance. The genes deciding a single trait may have several forms (alleles). For example, the gene responsible for hair color has two main alleles: red and brown. The four possibilities are thus

Brown/red, which would result in brown hair, Red/red, resulting in red hair, Brown/brown, resulting in brown hair, or Red/brown, resulting in red hair.

The genetic codes for red and brown can be either dominant or recessive. In any case, the dominant gene overrides the recessive.

When two people create a child, they each supply their own set of genes. In simplistic cases, such as the red/brown hair, each parent supplies one “code”, contributing to the child’s hair color. For example, if dad has brown/red he has a 50% chance of passing brown hair to his child and a 50% of passing red hair. When combined with a mom who has brown/brown (who would supply 100% brown), the child has a 75% chance of having brown hair and a 25% chance of having red hair. Similar rules apply to different traits and characteristics, though they are usually far more complex.

Some traits are found to be determined by genes and environmental effects. Height for example seems to be controlled by multiple genes, some are “tall” genes and some are “short” genes. A child may inherit all the “tall” genes from both parents and will end up taller than both parents. Or the child my inherit all the “short” genes and be the shortest in the family. More often than not the child inherits both “tall” and “short” genes and ends up about the same height as the rest of the family. Good diet and exercise can help a person with “short” genes end up attaining an average height. Babies born with drug addiction or alcohol addiction are a sad example of environmental inheritance. When mom is doing drugs or drinking, everything that she takes the baby takes. These babies often have developmental problems and learning disabilities. A baby born with Fetal alcohol syndrome is usually abnormally short, has small eyes and a small jaw, may have heart defects, a cleft lip and palate, may suck poorly, sleep poorly, and be irritable. About one fifth of the babies born with fetal alcohol syndrome die within the first weeks of life, those that live are often mentally and physically handicapped.

Sex-linked inheritance is quite obvious, it determines your gender. Male gender is caused by the Y chromosome which is only found in males and is inherited from their fathers. The genes on the Y chromosomes direct the development of the male sex organs. The x chromosome is not as closely related to the female sex because it is contained in both males and females. Males have a single X and females have double XX. The X chromosome is to regulate regular development and it seems that the Y is added just for the male genitalia. When there is a default with the X chromosomes in males it is almost always persistent because there is not the extra X chromosome that females have to counteract the problem. Certain traits like colorblindness and hemophilia are on alleles carried on the X chromosome. For example if a woman is colorblind all of her sons will be colorblind. Whereas all of her daughters will be carriers for colorblindness.

Our knowledge of the mechanisms of genetic inheritance has grown a lot since Mendel’s time. It is now understood, that if you inherit one allele, it can sometimes increase the chance of inheriting another and can affect when or how a trait is expressed in an individuals phenotype. There are levels of dominance and recessiveness with some traits. Mendel’s simple rules of inheritance does not always apply in these exceptions.

Polygenic traits are traits determined by the combined effect of more than one pair of genes. Human stature is an example of this trait. The size of all body parts from head to foot combined determines height. The size of each individual body part are determined by numerous genes. Human skin, eyes, and hair are also polygenic genes because they are determined by more than one allele at a different location.

When there is incomplete dominance, blending can occur resulting in heterozygous individuals. An example of intermediate expression is the pitch of a human male voice. Homozygous men have the lowest and highest voice for this trait (AA and aa). The child killer Tay- Sachs is also characterized by incomplete dominance.

For some traits, two alleles can be co-dominant. Were both alleles are expressed in heterozygous individuals. An example of that would be a person with AB blood. These people have the characteristics of both A and B blood types when tested.

There are some traits that are controlled by far more alleles. For example, the human HLA system, which is responsible for accepting or rejecting foreign tissue in our bodies, can have as many as 30,000,000 different genotypes! The HLA system is what causes the rejection of organ transplants. The multiple allele series is very common, as geneticists learn more about genetics, they realize that it is more common than the simple two allele ones.

Modifying and regulator genes are the two classes of genes that may have an effect on how the other genes function. Modifying Genes alter how other genes are expressed in the phenotype. For example, a dominant cataracts gene may impair vision at various degrees, depending on the presence of a specific allele for a companion modifying gene. However, cataracts can also come from excessive exposure to ultraviolet rays and diabetes. Regulator Genes also known as homoerotic genes, can either initiate or block the expression of other genes. They also control a variety of chemicals in plants and animals. For example, Regulator genes control the time of production of certain proteins that will be new structural parts of our bodies. Regulator genes also work as a master switch starting the development of our body parts right after conception and are also responsible for the changes in our bodies as we get older. They control the aging processes and maturation.

Some genes are incomplete penetrate. Which means, unless some environmental factors are present, the effect does not occur. For example, you can inherit the gene for diabetes, but never get the disease, unless you were greatly stressed, extremely overweight, or didn’t get enough sleep at night.

Some of the most common inherited diseases are hemochromatosis, cystic fibrosis, sickle cell anemia and hemophilia. They are all passed along from the parents and even if the parents don’t show signs of the disease they may be carriers which mean that all of the children they have may be born with the disease. There is genetic testing that may be done prenatally to determine if the baby is conflicted with one of these diseases.

Even though most people have never heard of hemochromatosis it is the most common inherited disease. About 1 in 300 are born with hemochromatis and 1 in 9 are carriers. The main characteristic is the intake of too much iron into the inflicted body. Iron is crucial to the workings of hemoglobin but too much iron is just as bad as too little iron. With hemochromatosis deposits of iron form on almost every major organ especially the liver, heart and pancreas, which causes complete organ failure. Hemochromatosis patients usually absorb two or three times the iron that is needed for normal people. Hemochromatosis was first discovered in 1865 and most patients have Celtic ancestry dating back 60 or 70 generations.

The most common treatment for hemochromatosis is to induce anemia and maintain it until the iron storage is reduced. This is done by therapeutic phlebotomy. Phlebotomy is the removal of a unit of blood (about 500 mls.) This must be done one to two times a week and can take weeks, months, or years to complete. After this treatment some patients will never have to do it again and others will have to do it many times over the course of their life. Patients who undergo their recommended treatments usually go on to live a long and healthy life. Patients who decide against treatment increase their chances of problems such as organ failure — or even death. Along with phlebotomy treatment, patients should stick to a low iron diet and should not cook with iron cookware.

Cystic fibrosis is a disease that causes thick, sticky mucus to build up in the lungs and digestive tract. It is the most common lung disease in children and young adults and may cause early death. The mucus builds up in the breathing passages of the lungs and in the pancreas. The build up of the mucus results in terrible lung infections and digestion problems. Cystic fibrosis may also cause problem with the sweat gland and a man’s reproductive system. There are more than 1,000 mutations of the CF gene, symptoms vary from person to person. The most common symptoms are: No bowel movements for the first 24 to 48 hours of life, stools that are pale or clay colored, foul smelling or that float, infants that have salty-tasting skin, recurrent respiratory infections like pneumonia, coughing or wheezing, weight loss or low weight gain in childhood, diarrhea, delayed growth, and excessive fatigue. Most patients are diagnosed by their first birthday but less severe cases sometimes aren’t caught until after 18 years of age. 40% of patients are over 18 years old and the average life span of CF patients is about 35 years old, which is a huge increase over the last 30 years. Patients usually die of lung complications.

In 2005 the U.S food and drug administration approved the first DNA based blood test to help detect CF. Other tests to help detect CF include: Sweat chloride test, which is the standard test for CF. High salt levels in the patients sweat is an indication of CF, Fecal fat test, upper GI and small bowel series, and measurements of pancreatic function. After a diagnosis has been made there are a number of treatments available, these include: Antibiotics for respiratory infections, pancreatic enzyme replacement, vitamin supplements (mostly A, D, E, and K), inhalers to open the airways, enzyme replacement therapy which makes it easier to cough up the mucus, pain relievers, and in very severe cases, lung transplants.

Sickle cell anemia is an inherited disease of the red blood cells which causes abnormally shaped red cells. A typical red blood cell has about 270 million hemoglobin molecules, which bind with oxygen. In a person with sickle cell disease, one amino acid is changed in the hemoglobin molecule, and the end result is misshapen red blood cells. In a patient with sickle cell disease the red blood cells change from the normal round shape to the shape of a sickle or “C” shaped. The abnormal shape causes the cells to get stuck in some blood vessels which causes blockage in the vessel. This causes pain and can destroy organs because of the lack of oxygen. Sickle cells live only 10 to 20 days and a normal cell lives about 120 days.

Red blood cells with sickle-cell mutations.

This rapid death of blood cells leads to chronic anemia. Complications can include severe pain, terrible infection, swelling of the feet and hands, stroke, damage to the eyes, and damaged body organs. These effects can vary from person to person depending on the type of sickle cell disease they have. Some patients are mostly healthy and others are in the hospital more than they are out. Thanks to diagnosis and treatment advancements, most children born with sickle cell grow up to have a normal and relatively healthy life. The form of sickle cell is determined by which genes they inherit from the parents. When a child inherits a sickle cell gene (hemoglobin gene) from each parent it is called hemoglobin SS disease ( which is the formal name for sickle cell). When a child inherits a sickle cell gene from one parent and a different abnormal gene from the other parent, it is a form of disease called hemoglobin SC disease or hemoglobin S-thalassemia. If a child inherits a normal gene from one parent and a sickle cell gene from the other, the child will not have sickle cell but will be a carrier and may pass it to their children. Sickle cell affects mostly African Americans and some Latino Americans. A person who is a carrier (has one copy of the gene) is resistant to malaria. This heterozygote advantage explains why the gene is more common in people in equatorial regions, or who are descendants of such people (such as African Americans).

Sickle cell is diagnosed at birth with a simple blood test. If the first blood test is positive then a second test is done just for confirmation. Because of the high risk of infections that occur with sickle cell, early diagnosis is very important. Other than a bone marrow transplant there is no known cure for sickle cell. Bone marrow transplants have a high risk of rejection and aren’t an available option for every patient. The patient would need a bone marrow donor match with a low risk of rejection. Even without a cure, with the use of pain medications and antibiotic treatments, children with sickle cell can live a long and happy life. Blood transfusions are sometimes used to treat episodes of severe pain. For adults who have recurrent pain episodes (at least 3 yearly), a cancer drug, hydroxyurea (marketed as Droxia), has been approved to relieve symptoms. It appears to work by increasing the flexibility of sickle cells.

About two thirds of people who have Hemophilia have inherited it. For the other third, there is no known cause for possessing the disorder. There are two types of hemophilia, Type A and Type B. Both are caused by a low level or a complete absence of protein in the blood. Without this protein, blood is not able to clot.

Some of the symptoms of Hemophilia are bleeding in the joints, knees, and ankles. Stiffness without pain in the joints, stiffness with a lot of warmth,(most ability for movement is lost due to swelling) blood in the urine or stool, excessive bleeding after surgery or loosing a tooth, excessive bruising, abnormal menstrual bleeding, and nose bleeds that last for long periods of time.

Hemophiliacs blood does not coagulate like a normal persons. Coagulation controls bleeding, it changes blood from a liquid to a solid. Within seconds of a cut or scrape, platelets, calcium and other tissue factors start working together to form a clot. Over a short time the clot strengthens and then dissolves as the injury heals. Hemophiliacs are missing the clotting factor, or it isn’t working correctly which causes them to bleed for a longer time. The most common myth is that a person with a bleeding disorder will bleed to death from a minor wound or that their blood flows faster than somebody without a bleeding disorder. Some of the risks hemophilia are: Scarring of the joints or joint disease, vision loss from bleeding of the eyes, chronic anemia from blood loss, a neurological or psychiatric problem, death which may occur from large amounts of blood loss or bleeding in the brain or other vital organs. Most cases of hemophilia are caused from inherited disorders but sometimes people can get it from vitamin K deficiency, liver disease, or treatments like prolonged use of antibiotics or anti coagulation drugs. Hemophilia is the best known bleeding disorder and it has had the most research done on it, so hemophiliacs have a slight advantage over people with other bleeding disorders.

To treat Hemophilia, a Clotting Factor is needed. It is in the shape of powder kept in a small, sterile glass bottle. It has to be kept in the fridge. When needed, The Clotting Factor is mixed with sterile water, then one minute later it can be injected into a vein. It may also be mixed with a large amount of water and injected through an IV.

There are over 140 centers that specialize in hemophilia. Most of these centers are “Comprehensive Care Facilities”. Comprehensive care facilities provide all the services needed by a hemophiliac and their family. Services provided include: Primary physician, nurse coordinator, physiotherapist, and dentist. Hemophiliacs require a special dentist because of the higher risk of bleeding. It is recommended that hemophiliacs go to the treatment centers twice a year for a complete check-up.

The basic and most common treatment for patients with hemophilia A and B is factor replacement therapy. Factor replacement therapy is the IV injection of Factor VIII and IX concentrates which help control bleeding. This concentrate comes from two sources: human plasma and genetically engineered cells made by DNA technology. This concentrate is what the hemophiliac is lacking in their own genes. After the injection is given the patients blood becomes “normal” for a couple of hours which gives time for a clot to from at the site of a damaged blood vessel. This treatment is not a permanent cure, within about 3 days there is no trace left in the system. Today’s Factor treatments are much more concentrated than they were in the past so very little is required even if the patient is going in for major surgery or has a major injury. Treatments are also very convenient, they can be stored at home in the fridge for up to 6 months. So if the patient is injured they don’t need to go to the hospital they can give themself an injection at home. After the injection it only takes about 15-20 minutes for the clotting process to begin. There is a risk of contracting other disease such as AIDS from Factor VIII that is made from human plasma, but as technology gets better the cases of AIDS has dropped. There is no possibility of contracting diseases from genetic engineering Factor VIII.

Hemophiliacs can live a long life. The most common reason for early death among patients has been from AIDS related complications.

Any disorder caused totally or in part by a fault (or faults) of the genetic material passed from parent to child is considered a genetic disorder. The genes for many of these disorders are passed from one generation to the next, and children born with a heritable genetic disorder often have one or more extended family members with the same disorder. There are also genetic disorders that appear due to spontaneous faults in the genetic material, in which case a child is born with a disorder with no apparent family history.

Down Syndrome, also known as Trisomy 21, is a chromosome abnormality that effects one out of every 800-1000 newborn babies. During anaphase II of meiosis the sister chromatids of chromosome 21 fail to separate, resulting in an egg with an extra chromosome, and a fetus with three copies (trisomy) of this chromosome. At birth this defect is recognizable because of the physical features such as almond shaped eyes, a flattened face, and less muscle tone than a normal newborn baby. During pregnancy, it is possible to detect the Down Syndrome defect by doing amniocentesis testing. There is a risk to the unborn baby and it is not recommended unless the pregnant mother is over the age of thirty-five. Other non-lethal chromosomal abnormalities include additional osex chromosome abnormalities which is when a baby girl (about 1 in 2,500)is born with one x instead of two (xx) this can cause physical abnormalities and defective reproduction systems. Boys can also be born with extra X’s (XXY or XXXY) which will cause reproductive problems and sometimes mental retardation.

Chromosomal Abnormalities In most cases with a chromosomal abnormality all the cells are affected. Defects can have anywhere from little effect to a lethal effect depending on the type of abnormality. Of the 1 in 200 babies born having some sort of chromosomal abnormality, about 1/3 of these results in spontaneous abortion. Abnormalities usually form shortly after fertilization and mom or dad usually has the same abnormality. There is no cure for these abnormalities. Tests are possible early in pregnancy and if a problem is detected the parents can choose to abort the fetus.

Mutation is a permanent change in a segment of DNA.

Mutations are changes in the genetic material of the cell. Substances that can cause genetic mutations are called mutagen agents. Mutagen agents can be anything from radiation from x-rays, the sun, toxins in the earth, air, and water viruses. Many gene mutations are completely harmless since they do not change the amino acid sequence of the protein the gene codes for.

Mutations can be good, bad, or indifferent. They can be good for you because their mutation can be better and stronger than the original. They can be bad because it might take away the survival of the organism. However, most of the time, they are indifferent because the mutation is no different than the original.

The not so harmless ones can lead to cancer, birth defects, and inherited diseases. Mutations usually happen at the time of cell division. When the cell divides, one cell contracts a defect, which is then passed down to each cell as they continue to divide.

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The Iowa Institute of Human Genetics (IIHG) is dedicated to promoting clinical care, research and education focused on the medical and scientific significance of variation in the human genome. The IIHG serves as a statewide resource for outreach about issues related to understanding the extent and meaning of human DNA sequence variation. Learn more…

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Myths of Human Genetics: Earlobes

Some people have earlobes that curve up between the lowest point of the earlobe and the point where the ear joins the head; these are known as “free” or “unattached” earlobes, as shown in the upper left of the picture below. Other people have earlobes that blend in with the side of the head, known as “attached” or “adherent” earlobes, as shown in the lower right.

Attached vs. free earlobes are often used to illustrate basic genetics. The myth is that earlobes can be divided into into two clear categories, free and attached, and that a single gene controls the trait, with the allele for free earlobes being dominant. Neither part of the myth is true.

Classroom exercises on earlobe genetics say that there are two distinct categories, free (F) and attached (A). However, many of the papers on earlobe genetics have pointed out that there are many people with intermediate earlobes (Quelprud 1934, Wiener 1937, Dutta and Ganguly 1965). El Kollali (2009) classified earlobes into three types, based on whether the attachment angle was acute, right, or obtuse. To make the picture above, I searched for pictures of professional bicyclists (because they have short hair), found 12 with their ears showing, and arranged them from free to attached. It doesn’t look to me as if there are just two categories; instead, there is continuous variation in the height of the attachment point (the “otobasion inferius”) relative to the lowest point on the earlobe (the “subaurale”). My own earlobes are exactly halfway in between the two extremes; I couldn’t tell you whether my earlobes should be considered free or attached.

Carrire (1922) and Hilden (1922) were among the first to study the genetics of earlobes, and they reached opposite conclusions. Carrire (1922) looked at 15 families and concluded that attached earlobes were dominant. However, all of the offspring of A x A matings had attached earlobes, and there were no F x F matings, so his data are consistent with either free or attached being dominant.

Powell and Whitney (1937) looked at one family and concluded that attached earlobes were recessive. Wiener (1937) responded by pointing out that the “arbitrary classification into two sharply defined types…gives a false picture, since all gradations between the two extremes are encountered.” He divided earlobes into four arbitrary groups, from 0 (completely free) to 3 (completely attached). All possible matings, from completely 0 x 0 to 3 x 3, produced some intermediate earlobes. Wiener (1937) concluded that earlobes were determined by more than one gene, or by a singe gene with more than two alleles.

Lai and Walsh (1966) called earlobes in which the lowest point on the earlobe was the attachment point “attached,” and they classified all other earlobes as “free.” They recorded the following data on families in New Guinea:

If the myth were true, two parents with attached earlobes could not have a child with a free earlobe. There are slightly more A offspring from A x A matings, but the large numbers of F offspring from A x A matings and A offspring from F x F matings indicate that this is not a one-locus, two-allele trait.

Mohanraju and Mukherjee (1973) performed a similar study in India and found similar results:

They found a much stronger association between parents and offspring, but the five F offspring of A x A matings are inconsistent with the myth that this is a one-locus, two-allele trait.

Earlobes do not fall into two categories, “free” and “attached”; there is continuous variation in attachment point, from up near the ear cartilage to well below the ear. While there is probably some genetic influence on earlobe attachment point, family studies show that it does not fit the simple one-locus, two-allele myth. You should not use earlobe attachment to demonstrate basic genetics.

Carrire, R. 1922. ber erbliche Orhformen, insbesondere das angewachsene Ohrlppchen. Zeitschrift fr Induktive Abstammungs- und Vererbungslehre 28: 288-242.

Dutta, P., and P. Ganguly. 1965. Further observations on ear lobe attachment. Acta Genetica 15: 77-86.

El Kollali, R. 2009. Earlobe morphology: a simple classification of normal earlobes. Journal of Plastic, Reconstructive and Aesthetic Surgery 62: 277-280.

Hilden, K. 1922. ber die Form des Ohrlppchens beim Menschen und ihre Abhngigkeit von Erblanglagen. Hereditas 3: 351-357.

Lai, L.Y.C., and R.J. Walsh. 1966. Observations on ear lobe types. Acta Genetica 16: 250-257.

Mohanraju, C., and D.P. Mukherjee. 1973. Ear lobe attachment in an Andhra village and other parts of India. Human Heredity 23: 288-297.

Mowlavi, A., D.G. Meldrum, and B.J. Wilhelmi. 2004. Earlobe morphology delineated by two components: the attached cephalic segment and the free caudal segment. Plastic and Reconstructive Surgery 113: 1075-1076.[not seen yet]

Powell, E.F., and D.D. Whitney. 1937. Ear lobe inheritance: an unusual three-generation photographic pedigree chart. Journal of Heredity 28: 184-186.

Quelprud, T. 1934. Familienforschungen ber Merkmale des usseren Ohres. Zeitschrift f Induktive Abstammungs- und Vererbungslehre 67: 296-299.

Wiener, A.S. 1937. Complications in ear genetics. Journal of Heredity 28: 425-426.

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Myths of Human Genetics: Earlobes

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Track 1:Cellular and Molecular Genetics

The study of genetics at the level of the basic building blocks of cells and at the DNA level. Cells are as complex as they are tiny and much is still unknown about the inner workings of these building blocks of life. If you’d like to log hours in a lab and use advanced equipment to help advance the understanding of how cells work, studies in cellular and molecular biology could be for you. Biology is the study of living things, and cellular or molecular biology studies living things on the smallest possible scale. To prepare for a career in cellular or molecular biology, individuals must have a strong understanding of chemistry, statistics and physics. The research of cellular and molecular biologists is integral to things like the development of new medications, the protection of aquatic ecosystems and the improvement of agricultural products. A student pursuing an undergraduate or graduate degree in cellular and molecular Genetics spends time divided between classroom lectures and practical laboratory instruction. Research is an important part of this field, and students must be comfortable using highly advanced pieces of equipment to conduct experiments. In addition, cellular and molecular biology programs teach students about cellular structures and their functions, how cells make and use things like proteins and enzymes and much more. Courses covered in a molecular or cellular biology degree program may include microbiology, epidemiology, microscopy and molecular genetics. The following Study.com articles offer more details about this field of study.

Related Genetics Conferences | Human Genetics Conferences | Conference Series LLC

International Conference on Clinical AndMolecular Genetics, 28-30 November 2016 (Chicago, USA); 6thInternational Conference on Genomics &Pharmacogenomics, 22-24 September 2016 (Berlin, Germany); World Congress onHuman Genetics, 31October 02November 2016 (Valencia, Spain); International Conference on Genetic Counselling AndGenomic Medicine, 11-12 August, 2016 (Birmingham, UK); Cell &Gene TherapyCongress, 19-21 May 2016 ( San Antonio, USA); 2015 Midwest Conference onCell Therapy& Regenerative Medicine September 18-19 2015 (Kansas City, Missouri); 2nd Cell &Gene TherapyConference 9-10 September 2015 (Philadelphia, United States); Cell &Gene TherapyEurope 29-30 September 2015 (Barcelona, Spain); Cell Manufacturing andGene TherapyCongress 2015 2-3 December 2015 (Brussels, Belgium).

Track 2:Clinical Genetics

Clinical Genetics is the medical specialty which provides a diagnostic service and “genetic counselling” for individuals or families with, or at risk of, conditions which may have a genetic basis. Genetic disorders can affect any body system and any age group. The aim of Genetic Services is to help those affected by, or at risk of, a genetic disorder to live and reproduce as normally as possible. In addition a large number of individuals with birth defects and/or learning disabilities are referred and investigated for genetic factors. Individuals identified through childhood or pregnancy screening programmes also require genetic services. In the future, as the genetic contributions to common later-onset disorders such as diabetes and coronary heart disease are identified, genetic services may be required for those at high risk. Testing for genetic factors that affect drug prescribing will also increasingly become an important activity.

Related Genetics Conferences | Human Genetics Conferences | Conference Series LLC

World Congress onHuman Genetics, 31 October 02 November 2016 (Valencia, Spain); International Conference on Clinical andMolecular Genetics, 28-30 November 2016 (Chicago, USA); 6thInternational Conference on Genomics &Pharmacogenomics, 22-24 September 2016 (Berlin, Germany); International Conference on Genetic Counselling AndGenomic Medicine, 11-12 August, 2016 (Birmingham, UK); Cell &Gene TherapyCongress, 19-21 May 2016 ( San Antonio, USA); The 44nd Biennial American Cytogenetics Conference,16-18 May, 2016 (Oregon, USA); The European Human Genetics Conference 2016, 21-24 May, 2016 (Barcelona, Spain); 4th International workshop on Cancer Genetic & Cytogenetic Diagnostics, 6-8 April, 2016, (Nijmegen, Netherlands); Chromatin and Epigenetics, 20-24 Mar 2016 (Whistler, Canada); Game of Epigenomics Conference, 24 – 26 April 2016 (Dubrovnik, Croatia)

Track 3:Genomics: Disease & Evolution

Genomicsis a discipline ingeneticsthat appliesrecombinant DNA,DNA sequencingmethods, andbioinformaticsto sequence, assemble, and analyze the function and structure ofgenomes(thecompleteset of DNA within a single cell of an organism).Advances in genomics have triggered a revolution in discovery-based research to understand even the most complex biological systems such as the brain.The field includes efforts to determine the entireDNA sequenceof organisms and fine-scalegenetic mapping. The field also includes studies of intragenomic phenomena such asheterosis,epistasis,pleiotropyand other interactions betweenlociandalleleswithin the genome.In contrast, the investigation of the roles and functions of single genes is a primary focus ofmolecular biologyorgeneticsand is a common topic of modern medical and biological research. Research of single genes does not fall into the definition of genomics unless the aim of this genetic, pathway, and functional information analysis is to elucidate its effect on, place in, and response to the entire genome’s networks.

Related Genetics Conferences | Human Genetics Conferences | Conference Series LLC

Cell &Gene TherapyCongress, 19-21 May 2016 (San Antonio, USA); International Conference on Clinical andMolecular Genetics, 28-30 November 2016 (Chicago, USA); World Congress onHuman Genetics, 31 October 02 November 2016 (Valencia, Spain); 2nd International Congress on Neuroimmunology and Therapeutics, March 31-April 02, 2016 (Atlanta, USA); 2nd International Conference and Exhibition on Antibodies, July 14-15, 2016 (Philadelphia, USA); 16th International Congress of Immunology, August 21-26, 2016 (Melbourne, Australia); IMMUNOLOGY 2016, AAI Annual Meeting, May 1317, 2016 (Seattle, WA); 4th International workshop on Cancer Genetic & Cytogenetic Diagnostics, 6-8 April, 2016, (Nijmegen, Netherlands); Chromatin and Epigenetics, 20-24 Mar 2016 (Whistler, Canada); Game of Epigenomics Conference, 24 – 26 April 2016 (Dubrovnik, Croatia)

Track 4: Cancer Genetics:

Canceris agenetic disorderin which the normal control ofcell growthis lost.Cancer geneticsis now one of the fastest expandingmedical specialties. At themolecularlevel, cancer is caused bymutation(s)inDNA, which result in aberrantcellproliferation. Most of these mutations areacquiredand occur insomatic cells. However, some peopleinherit mutation(s) in thegerm line. The mutation(s) occur in two classes of cellulargenes:oncogenesandtumor suppressor genes. Under normal conditions, tumor suppressor genes regulate cellular differentiation and suppression of proliferation. Mutations in these genes result in unchecked cellular proliferation resulting in tumors with abnormalcell cyclesand tumor proliferation. The tumor suppressor genes contribute to cancer by the inactivating ofloss of function mutation.

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International Conference onCervical Cancer,22-23 September, 2016 (Vienna, Austria); 6th World Congress onCancer Therapy, 01-03 December, 2016 (Baltimore, USA); 13th Global Summit onCancer Therapy17-19 October, 2016 (Dubai, UAE); International Conference onPancreaticand Colorectal Cancer, 29-30 March, 2016 (Atlanta, USA); Global Summit onMelanomaAnd Carcinoma, 14-15 July, 2016 (Brisbane, Australia); Chromatin andEpigeneticin Cancer ( Atlanta, Georgia); Advances inOvarianCancer Research: Exploiting Vulnerabilities (Orlando, Florida); Advance inBreast CancerResearch ( Washington, DC); Advances inPediatric CancerResearch (Florida); New Horizons in Cancer Research Conference (Sanghai, China).

Track 5:Stem cells and Regenerative Medicine

Many of the stem cells being studied are referred to aspluripotent, meaning they can give rise to any of the cell types in the body but they cannot give rise on their own to an entirely new body. (Only the earliest embryonic cells, which occur just after fertilization, can give rise to a whole other organism by themselves.) Other stem cells, such as the ones found in the adult body, aremultipotent, meaning they can develop into a limited number of different tissue types. One of the most common stem cell treatments being studied is a procedure that extracts a few stem cells from a person’s body and grows them in large quantities in the laboratorywhat scientists refer to as expanding the number of stem cells. Once a sufficient number have been produced in this manner, the investigators inject them back into the patient. You could say that medicine up until now has been all about replacements. If your heart valve isn’t working, you replace it with another valve, say from a pig. With regenerative medicine, you’re treating the cause and using your own cells to perform the replacement. The hope is that by regenerating the tissue, you’re causing the repairs to grow so that it’s like normal.

Genetic disorders may or may not be heritable, i.e., passed down from the parents’ genes. In non-heritable genetic disorders, defects may be caused by new mutations or changes to the DNA

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World Congress onHuman Genetics, 31 October 02 November 2016 (Valencia, Spain); International Conference on Clinical andMolecular Genetics, 28-30 November 2016 (Chicago, USA); 6thInternational Conference on Genomics &Pharmacogenomics, 22-24 September 2016 (Berlin, Germany); International Conference on Genetic Counselling AndGenomic Medicine, 11-12 August, 2016 (Birmingham, UK); Cell &Gene TherapyCongress, 19-21 May 2016 ( San Antonio, USA); The 44nd Biennial American Cytogenetics Conference,16-18 May, 2016 (Oregon, USA); The European Human Genetics Conference 2016, 21-24 May, 2016 (Barcelona, Spain); 4th International workshop on Cancer Genetic & Cytogenetic Diagnostics, 6-8 April, 2016, (Nijmegen, Netherlands); Chromatin and Epigenetics, 20-24 Mar 2016 (Whistler, Canada); Game of Epigenomics Conference, 24 – 26 April 2016 (Dubrovnik, Croatia)

Track 6:Cancer and Genome Integrity

The research program in the Genome Integrity is focused on the exploration of the causes and effects of genomic instability, mechanisms of DNA repair and the study of DNA repair breakdown as an initiating or protective event in aging and cancers. The program will emphasize a mechanistic understanding of the pathways that maintain genomic integrity, the intersection of these pathways with normal cellular physiology and cancer and the application of these insights to the development of new therapeutic strategies.The Genome integrity has made major contributions towards a detailed understanding of DNA repair pathway selection as a primary influence on genomic stability and drug resistance/sensitivity in breast and ovarian cancers and the influential role of DNA repair proteins in the promotion of specific hematological malignancies

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Track 7:Diabetes and Obesity

The UK is officially the ‘fattest’ country in Europe, with approximately1 in 5adults overweight and one in every 15 obese. Over the next 20 years, the number of obese adults in the country is forecast to soar by a staggering 73% to 26 million people. According to health experts, such a rise would result in more than a million extra cases oftype 2 diabetes,heart diseaseandcancer. Obesity is also no longer a condition that just affects older people, although the likelihood does increase with age, and increasing numbers of young people have been diagnosed with obesity. While the exact causes of diabetes are still not fully understood, it is known that factors up the risk of developing different types of diabetes mellitus.For type 2 diabetes, this includes being overweight or obese (having a body mass index – BMI – of 30 or greater).In fact, obesity is believed to account for 80-85% of the risk of developing type 2 diabetes, while recent research suggests that obese people are up to 80 times more likely to develop type 2 diabetes than those with aBMI of less than 22.

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Track 8:Congenital disorders

Congenital disorder, also known ascongenital disease,birth defectoranomaly is a condition existing at or beforebirth regardless of cause. Of these diseases, those characterized by structural deformities are termed “congenital anomalies” and involve defects in a developingfetus. Birth defects vary widely in cause and symptoms. Any substance that causes birth defects is known as ateratogen. Some disorders can be detected before birth throughprenatal diagnosis(screening). Birth defects are present in about 3% of newborns in USA.Congenital anomalies resulted in about 632,000 deaths per year in 2013 down from 751,000 in 1990.[9]The type with the greatest numbers of deaths arecongenital heart disease(323,000), followed byneural tube defects(69,000).

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4th International Conference on Integrative Biology, July 18-20, 2016 (Berlin, Germany); International Conference on Genetic Counseling and Genomic Medicine, August 11-12, 2016 (Birmingham, UK); International Conference on Synthetic Biology, August 15-17, 2016 (London, United Kingdom); International Conference on Clinical andMolecular Genetics, 28-30 November 2016 (Chicago, USA); World Congress onHuman Genetics, 31 October02 November 2016 (Valencia, Spain); Mitochondrial Dynamics (D2), April 3-7, 2016 (Colorado, USA); Mitochondrial Medicine 2016, June 15-18, 2016 (Seattle,USA); The 2016 Gordon Research Conference on Mitochondria & Chloroplasts, June 19-24, 2016 (Vermont, USA); Chromatin and Epigenetics, 20-24 Mar 2016 (Whistler, Canada); Game of Epigenomics Conference, 24 – 26 April 2016 (Dubrovnik, Croatia)

Track 9:Cytogenetics

Cytogeneticsis a branch ofgeneticsthat is concerned with the study of the structure and function of the cell, especially the chromosomes. It includes routine analysis ofG-bandedchromosomes, other cytogenetic banding techniques, as well asmolecular cytogeneticssuch asfluorescentin situhybridization(FISH) andcomparative genomic hybridization(CGH). Chromosomes were first observed in plant cells byKarl Wilhelm von Ngeliin 1842. Their behavior in animal (salamander) cells was described byWalther Flemming, the discoverer ofmitosis, in 1882. The name was coined by another German anatomist,von Waldeyerin 1888.

The next stage took place after the development of genetics in the early 20th century, when it was appreciated that the set of chromosomes (thekaryotype) was the carrier of the genes. Levitsky seems to have been the first to define the karyotype as thephenotypicappearance of thesomaticchromosomes, in contrast to theirgeniccontents. Investigation into the human karyotype took many years to settle the most basic question: how many chromosomes does a normaldiploidhuman cell contain? In 1912,Hans von Winiwarterreported 47 chromosomes inspermatogoniaand 48 inoogonia, concluding anXX/XOsex determinationmechanism. Painterin 1922 was not certain whether the diploid number of man was 46 or 48, at first favoring 46.He revised his opinion later from 46 to 48, and he correctly insisted on man having anXX/XYsystem. Considering their techniques, these results were quite remarkable.

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International Conference on Clinical andMolecular Genetics, 28-30 November 2016 (Chicago, USA); 6thInternational Conference on Genomics &Pharmacogenomics, 22-24 September 2016 (Berlin, Germany); World Congress onHuman Genetics, 31 October 02 November 2016 (Valencia, Spain); International Conference on Genetic Counselling andGenomic Medicine, 11-12 August, 2016 (Birmingham, UK); Cell &Gene TherapyCongress, 19-21 May 2016 ( San Antonio, USA); Game of Epigenomics Conference, 24 – 26 April 2016 (Dubrovnik, Croatia); The 44nd Biennial American Cytogenetics Conference,16-18 May, 2016 (Oregon, USA); The European Human Genetics Conference 2016, 21-24 May, 2016 (Barcelona, Spain); 4th International workshop on Cancer Genetic & Cytogenetic Diagnostics, 6-8 April, 2016, (Nijmegen, Netherlands); Chromatin and Epigenetics, 20-24 Mar 2016 (Whistler, Canada)

Track 10:Transplantation

Transplantation is the transfer (engraftment) of human cells, tissues or organs from a donor to a recipient with the aim of restoring function(s) in the body. When transplantation is performed between different species, e.g. animal to human, it is named xenotransplantation. Development of the field of organ and tissue transplantation has accelerated remarkably since the human major histocompatibility complex (MHC) was discovered in 1967. Matching of donor and recipient for MHC antigens has been shown to have a significant positive effect on graft acceptance. The roles of the different components of the immune system involved in the tolerance or rejection of grafts and in graft-versus-host disease have been clarified. These components include: antibodies, antigen presenting cells, helper and cytotoxic T cell subsets, immune cell surface molecules, signaling mechanisms and cytokines that they release. The development of pharmacologic and biological agents that interfere with the alloimmune response and graft rejection has had a crucial role in the success of organ transplantation Combinations of these agents work synergistically, leading to lower doses of immunosuppressive drugs and reduced toxicity. Reports of significant numbers of successful solid organ transplants include those of the kidneys, liver, heart and lung. The use of bone marrow transplantation for hematological diseases, particularly hematological malignancies and primary immunodeficiencies, has become the treatment of choice in many of these conditions

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World Congress onHuman Genetics, 31 October 02 November 2016 (Valencia, Spain); International Conference on Clinical andMolecular Genetics, 28-30 November 2016 (Chicago, USA); 6thInternational Conference on Genomics &Pharmacogenomics, 22-24 September 2016 (Berlin, Germany); International Conference on Genetic Counselling andGenomic Medicine, 11-12 August, 2016 (Birmingham, UK); Cell &Gene TherapyCongress, 19-21 May 2016 ( San Antonio, USA); The 44nd Biennial American Cytogenetics Conference,16-18 May, 2016 (Oregon, USA); The European Human Genetics Conference 2016, 21-24 May, 2016 (Barcelona, Spain); 4th International workshop on Cancer Genetic & Cytogenetic Diagnostics, 6-8 April, 2016, (Nijmegen, Netherlands); Chromatin and Epigenetics, 20-24 Mar 2016 (Whistler, Canada); Game of Epigenomics Conference, 24 – 26 April 2016 (Dubrovnik, Croatia)

Track 11:Neurodevelopmental disorders

Neurodevelopmental disordersare impairments of the growth and development of the brain orcentral nervous system. A narrower use of the term refers to a disorder of brain functionthat affectsemotion,learning ability,self-controlandmemoryand that unfolds as the individualgrows. The term is sometimes erroneously used as an exclusive synonym forautismandautism spectrumdisorders. The development of the brain is orchestrated, tightly regulated, and genetically encoded process with clear influence from the environment. This suggests that any deviation from this program early in life can result in neurodevelopmental disorders and, depending on specific timing, might lead to distinct pathology later in life. Because of that, there are many causes of neurodevelopmental disorder, which can range from deprivation,geneticandmetabolic diseases, immune disorders,infectious diseases,nutritionalfactors, physical trauma, and toxic and environmental factors. Some neurodevelopmental disorderssuch asautismand otherpervasive developmental disordersare considered multifactorialsyndromes(with many causes but more specific neurodevelopmental manifestation).

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Pharmacogeneticsis the study of inheritedgeneticdifferences in drugmetabolic pathwayswhich can affect individual responses to drugs, both in terms of therapeutic effect as well as adverse effects.The term pharmacogenetics is often used interchangeably with the termpharmacogenomicswhich also investigates the role of acquired and inherited genetic differences in relation to drug response and drug behavior through a systematic examination of genes, gene products, and inter- and intra-individual variation in gene expression and function. In oncology,pharmacogeneticshistorically is the study ofgerm line mutations(e.g.,single-nucleotide polymorphismsaffecting genes coding for liver enzymes responsible for drug deposition andpharmacokinetics), whereaspharmacogenomicsrefers tosomatic mutationsintumoralDNA leading to alteration in drug response (e.g.,KRASmutations in patients treated withanti-Her1biologics).

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Pharmacogenomics is the study of how genes affect a persons response to drugs. This relatively new field combines pharmacology (the science of drugs) and genomics (the study of genes and their functions) to develop effective, safe medications and doses that will be tailored to a persons genetic makeup. Many drugs that are currently available are one size fits all, but they dont work the same way for everyone. It can be difficult to predict who will benefit from a medication, who will not respond at all, and who will experience negative side effects (called adverse drug reactions). Adverse drug reactions are a significant cause of hospitalizations and deaths in the United States. With the knowledge gained from the Human Genome Project, researchers are learning how inherited differences in genes affect the bodys response to medications. These genetic differences will be used to predict whether a medication will be effective for a particular person and to help prevent adverse drug reactions.The field of pharmacogenomics is still in its infancy. Its use is currently quite limited, but new approaches are under study in clinical trials. In the future, pharmacogenomics will allow the development of tailored drugs to treat a wide range of health problems, including cardiovascular disease,Alzheimer disease, cancer, HIV/AIDS, and asthma.

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Track14:Drug discovery

Driven by chemistry but increasingly guided by pharmacology and the clinical sciences,drugresearch has contributed more to the progress of medicine during the past century than any other scientific factor. Improving the science ofdrug developmentand regulation is important in fulfilling the public health. The advent of molecular biology and, in particular, of genomic sciences is having a deep impact ondrug discovery. Emphasis is placed on the contrast between the academic and industrial research operating environments, which can influence the effectiveness of research collaboration between the two constituencies, but which plays such an important role indrug innovation. The strategic challenges that research directors face are also emphasized.

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Track15:Bioinformatics in Human Genetics

Recent developments, including next-generation sequencing (NGS), bio-ontologies and the Semantic Web, and the growing role of hospital information technology (IT) systems and electronic health records, amass ever-increasing amounts of data before human genetics scientists and clinicians. However, they have ever-improving tools to analyze those data for research and clinical care. Correspondingly, the field of bioinformatics is turning to research questions in the field of human genetics, and the field of human genetics is making greater use of bioinformatic algorithms and tools. The choice of “Bioinformatics and Human Genetics” as the topic of this special issue of Human Mutation reflects this new importance of bioinformatics and medical informatics in human genetics. Experts from among the attendees of the Paris 2010 Human Variome Project symposium provide a survey of some of the “hot” computational topics over the next decade. These experts identify the promise-what human geneticists who are not themselves bioinformaticians stand to gain-as well as the challenges and unmet needs that are likely to represent fruitful areas of research.

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Anthropologyis the study ofhumanity.Its main subdivisions aresocialandcultural anthropology, which describes the workings of societies around the world,linguistic anthropology, which investigates the influence of language in social life, and biological or physical anthropology. Anthropology concerns long-term development of the human organism.Archaeology, which studies past human cultures through investigation of physical evidence, is thought of as a branch of anthropology in the United States, although in Europe, it is viewed as a discipline in its own right, or grouped under related disciplines such as history.

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1. Scope and Importance of Human Genetics:

Scope: The Scope of the conference is to gather all the Doctors, Researchers, Business Delegates and Scientists to approach and deliver all the attendees about the latest scientific advancements on the respective sphere. This Human Genetics Conference is the premier event focusing on understanding individual and organizational behaviour and decision-making related to genetics and molecular biology, biotechnology, pharmaceuticals, medicals and academia.

Importance: Conference on Human Genetics is a much celebrated conference which basically deals with the latest research and developments in the sphere of genetics and molecular biology. This Conference will provide a perfect platform to all the International mix of leading Research Scholars, and Scientists achieved eminence in their field of study, research academicians from the universities and research institutions, industrial research professionals and business associates along with Ph.D. Students to come and inform all the attendees about the latest scientific advancements on the respective sphere.

2. Why its in Valencia, Spain?

In the last decade, pre-implantation genetic diagnosis and screening (PGD; PGS) have become widely used in IVF treatments: in 2005 nearly 6000 PGD/PGS (5 per cent of all IVF cycles) had been performed in Europe. The diffusion of these technologies, however, is not homogenous; whilst in some countries PGD is prohibited and in others is hardly implemented, Spain performs 33 per cent of all the PGD/PGS (ESHRE 2007). Combining the analysis of juridical documents with semi-structured interviews to past and present members of the Spanish National Assisted Reproduction Committee (CNRHA), this study suggests that the remarkable diffusion of PGD/PGS in Spain may be largely due to the interaction between the growing momentum enjoyed by embryonic stem cell research and a vibrant expansion of IVF business along the Mediterranean coast. In this process, genetic issues per se seem to play a minor role, although the prevention of genetic diseases constitutes the formal rationale for the extension of PGD from monogenic, early onset diseases to polygenic, late-onset ones.

3. Member Associated with Human Genetics Research

The Members who are associated with Genetics Research includes Societies, Associations, Institutes, Universities and other Research Organizations.

A. City Statistics: Approximately, more than 2876 members involved in Genetics and related researches in the city of Valencia.

B. Country Statistics: Approximately, more than 17775 members involved in Genetics and related researches in Spain.

C. Worldwide statistics: Europe: Approximately, more than 56083 members involved in Genetics and related researches. USA: Approximately, more than 24285 members involved in Genetics and related researches. Global: Approximately, 1291100 members involved in Genetics and related researches.

4. Societies Associated with Human Genetics Research

Some of the renowned societies involved in genetic research

A. Societies in Valencia and Spain:

B. Societies in Europe:

C. Societies in Globe:

5. Industries Associated with Human Genetics Research:

The Major Industries or Companies and laboratories associated with Genetics research are listed below:

A. By City – Some of the major companies in Valencia:

Sistemas Genomicos, Reproductive Genetics Unit, Paterna (Valencia); Instituto de Medicina Genmica, IMEGEN, Paterna (Valencia); LifeSequencing; Oncovision etc.

B. By Country Some of the major companies in Spain:

AC-Gen Reading Life SL, Valladolid; Cidegen, SL, Salamanca; Diagnostico Genetico Canarias, Las Palmas de Gran Canaria; Genetadi Biotech, GENETADI, Derio-BILBAO (SPAIN); GENETAQ, Molecular Genetics Centre, Malaga; Genetracer Biotech, Santander; Genyca, Madrid; Health in Code S.L., Corua; Innovagenomics S.L, Innovagenomics, Salamanca; Diagnostics in Iron Metabolism Diseases (DIRON), Badalona

C. Global:

Abbott Laboratories; AutoGenomics; Biocartis; Bio-Rad Laboratories; Cepheid; EKF Diagnostics; Elitech Group; IntegraGen; Interpace Diagnostics; Myriad Genetics; Perkin Elmer; Qiagen; Quest Diagnostics; Roche Diagnostics; WaferGen Biosystems

6. Universities Associated with Human Genetics

A. City Statistics:

University of Valencia , Universidad catolica de Valencia, Valencian international university, CEU Cardenal Herrera University, La Universidad Catlica de Valencia

B. Country Statistics – Spain:

University of Zaragosa, University of Barcelona, Universitat Pompeu Fabra, Universidad Complutense de Madrid , Universidad Autonoma de Madrid

C. Worldwide Statistics:

European university Switzerland, Vilnius university, Uppsala University, Universita degli study di Torino, Maastricht University, Graz University of Technology, Harvard University, Leiden University Medical Center, Center for Human and Clinical Genetics, University of Oxford, Stanford University, University of Cambridge.

7. Market Value on Human Genetics Research:

The global market for Genetic Testing is forecast to reach US$2.2 billion by 2017. Increasing knowledge about the potential benefits in genetic testing is one of the prime reasons for the growth of the genetic testing market. Advancements in the genetic testing space, aging population and a subsequent rise in the number of chronic diseases, and increasing incidence of cancer cases are the other factors propelling growth in the genetic testing market.

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Genetics Conferences | Human Genetics Conferences | Europe …

Genetics – Rutgers New Jersey Medical School

Medical Director: Franklin Desposito, MD Director of Biochemical Genetics: Ling Yu Shih, MD, PhD

Faculty Listing

About us:

The Center for Human and Molecular Genetics offers complete medical and maternal-fetal diagnostic services, evaluation and genetic counseling for families of infants and children with multiple congenital malformations, birth defects, and inherited metabolic disorders. In association with the Department of Obstetrics and Gynecology, state-of-the-art prenatal diagnostic services including genetic counseling are also provided. The Division, through its outreach programs delivers genetic services to minority populations throughout New Jersey. Comprehensive genetic laboratory services including cytogenetic analysis, biochemical metabolic testing and DNA (molecular) genetic testing and newborn screening are available. Additionally, the Division provides analysis and care for patients exposed to environmental agents.

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Genetics – Rutgers New Jersey Medical School

The Human Genetics Project

Is the Dominant Trait the Most Prevalent Trait?

Or put another way, does the dominant allele for a given trait show up as the prevalent phenotype in the population at large?

Ms. Ornovitz’s class Springfield, New Jersey, USA

Participants in this project will:

Join the project for a unique opportunity to study genetics as experienced scientists do! The Human Genetics Project is now open until June 20th, 2015, and you may participate at any time. There is NO fee to participate however we do ask you to register first.

Stay up to date on current issues in genetics! Go to current issues.

If you are new to this project, please read the project overview and schedule, and then register to join. Also, feel free to look at the list of schools currently registered for the project.

If you have any problems, don’t hesitate to contact the project leader.

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The Human Genetics Project

Human Genetics Association Of Nj Inc – NonProfitFacts.com

Human Genetics Association Of Nj Inc Employer Identification Number (EIN) 222534591 Name of Organization Human Genetics Association Of Nj Inc In Care of Name Christina Botti Address 89 French Street Rm 2202, New Brunswick, NJ 08901 Website http://www.hganj.org Activities Professional association Subsection Business League Ruling Date 11/1988 Deductibility Contributions are not deductible Foundation All organizations except 501(c)(3) Organization Corporation Exempt Organization Status Unconditional Exemption Tax Period 2013 Assets $0 Income $0 Filing Requirement 990 – Required to file Form 990-N – Income less than $25,000 per year Asset Amount $0 Amount of Income $0 Form 990 Revenue Amount $0 Other organizations in New Jersey Id Name Address State Established Total Income 1 Hudson-Essex Terraplane Club Inc 1233 Herkimer Rd, Bricktown, NJ 08724 NJ 1974-07 $0 2 Hug Wraps A Nj Nonprofit Corporation Po Box 2592, Vincentown, NJ 08088 NJ 2011-01 $0 3 Hugh & Elizabeth Grundy Charitable Remainder Unitrust PO BOX 1501, Pennington, NJ 08534-0671 NJ $0 4 Hugh J Jr & Bernice C Devine Charitable Remainder Unitrust, Devine Hugh J Jr & Bernice C Ttees 49 Krebs Rd, Plainsboro, NJ 08536-1104 NJ $0 5 Hugh M Durden Charitable Remainder Tr PO BOX 35, Princeton, NJ 08544-0035 NJ $0 6 Hugh S Gould Charitable Remainder Unitrust, Gould Hugh S Ttee PO BOX 1501, Pennington, NJ 08534-0671 NJ $0 7 Hugh Scott Jr Crut PO BOX 1501, Pennington, NJ 08534-0671 NJ $0 8 Hugh W Sloan Jr Charitable Remainder Trust PO BOX 35, Princeton, NJ 08544-0035 NJ $0 9 Hugs For Brady Foundation 4 Quentin Rd, Kendall Park, NJ 08824-1106 NJ 2010-12 $281,663 10 Human & Civil Rights Association Of New Jersey Po Box 2254, Edison, NJ 08818 NJ 2001-11 $0 11 Human Genetics Association Of Nj Inc 89 French Street Rm 2202, New Brunswick, NJ 08901 NJ 1988-11 $0 12 Human Trafficking Awareness Council Inc Po Box 3, Adelphia, NJ 07710 NJ 2011-08 $0 13 Human Unity Gateway Foundation Inc 160 Orange Road, Montclair, NJ 07042 NJ 2010-10 $0 14 Hunterdon Christian Church Inc 71 Summer Rd, Flemington, NJ 08822-7075 NJ 1979-11 $0 15 Hunterdon County School Counselor Association Hcrhs Route 31, Flemington, NJ 08822 NJ 2002-03 $0 16 Hunterdon Interfaith Outreach Council 349 Route 31 Suite 401, Flemington, NJ 08822 NJ 2010-09 $0 17 Huntingtons Disease Society Of America, New Jersey Chapter 53 Stickle Ave, Rockaway, NJ 07866-3100 NJ 1988-02 $0 18 Huntley Stone Charitable Remainder Tr PO BOX 35, Princeton, NJ 08543-0035 NJ $0 19 Hupsoo Enterprise Inc Po Box 9184, Elizabeth, NJ 07202 NJ 2011-01 $0 20 Hurd 1997 Charitable Remainder Annuity Trust 632h0800, Mills Peninsula Hosp Fdn Ttee PO BOX 1501, Pennington, NJ 08534-0671 NJ $0

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Human Genetics Association Of Nj Inc – NonProfitFacts.com

Human Genetics – University of Illinois at Chicago

University of Illinois at Chicago College of Medicine DEPARTMENT of MOLECULAR GENETICS INTRODUCTION

uizzes on the five major topics listed above are available on-line at our secure Mallard site. Click here and the UIC WWW Identification Service will ask for your netid and then your password (these are the same as those you use for email.)

Once the Mallard page loads you can access the quizzes by clicking on the Lessons Page link (also the third icon from the top of the navigation bar) or the Current Lesson link (also the fourth icon from the top of the navigation bar).

Contact Dr. Robert Tissot with questions about the content of these pages.

Contact Dr. Elliot Kaufman, Course Director with questions about the functionality of these pages.

Go to Department of Molecular Genetics homepage.

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Human Genetics – University of Illinois at Chicago

New Jersey Biology Tutoring: Top-Rated Biology Tutors

Selected Biology Tutors in New Jersey

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New Jersey Biology Tutoring: Top-Rated Biology Tutors

Home Institute for Human Genetics at UCSF

Y.W. Kans pioneering research into the hemoglobinopathies sickle cell anemia and thalassemia has widely impacted genetic research, diagnostics, and treatment of human disease. The Institute for Human Genetics is proud to recognize Y.W. Kan with a symposium honoring his decades-long contributions.

Y.W. Kan arrived at UCSF in the 1970s when he and many others (including Herb Boyer and Bishop & Varmus) helped usher in the era of molecular genetics. With long-time collaborator Andre Dozy, he discovered the first polymorphism in human DNA by Southern blot analysis in 1978, launching the ability to map genes on human chromosomes.

He and another long-time collaborator, Judy Chang, used those same techniques in 1979 to show how missing genes cause disease. He is the recipient of many national and international awards for his contributions. He continues to investigate the treatment of these diseases using stem cell and iPS cell therapies.

The Symposium will feature presentations from James Gusella, Katherine High, Dennis Lo, Bertram Lubin, Robert Nussbaum, Stuart Orkin, and Griffin Rodgers. Stuart Orkin will be featured as the 2015 Charles J. and Lois B. Epstein Visiting Professor.

Featured topics will includegene mapping, gene therapy, hemoglobinopathies, and non-invasive prenatal testing.

The IHG Symposium will be held November 2, 2015 at 1:00-6:30 in Cole Hall on the UCSF Parnassus campus and will include a poster session and awards.

IHG Symposium website|Register Now


Home Institute for Human Genetics at UCSF

Recent Articles | Human Genetics | The Scientist Magazine

Most Recent

The personal genomics firm is ramping up its suite of disease-related genetic tests.


In a small study of male twins, nine methylation sites helped researchers predict a persons sexual orientation.


Duplication of copy number variants may be the source of greatest diversity among people, researchers find.

1 Comment

By Bob Grant | July 23, 2015

Two genetic studies seeking to determine how people first migrated to North and South America yield different results.

1 Comment

Researchers link variations in two genes to cases of major depressive disorder in two large cohorts.

1 Comment

By Anna Azvolinsky | July 15, 2015

Scientists identify a human leukocyte antigen gene linked to immune protection from HIV following vaccination.

1 Comment

A large-scale genome sequencing effort identifies mutations with disease-causing potential at higher rates than expected.


By Anna Azvolinsky | June 5, 2015

Somatic mosaicism may be responsible for a larger proportion of genomic variability within humans than previously thought.


By Ruth Williams | May 28, 2015

Sequence analysis of Egyptian, Ethiopian, and non-African peoples indicates a likely route taken by modern humans migrating out of Africa.

1 Comment

By Ruth Williams | May 21, 2015

Replacing yeast genes with their human equivalents reveals functional conservation despite a billion years of divergent evolution.


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Recent Articles | Human Genetics | The Scientist Magazine

Human Genetics Graduate Programs | Pitt Public Health

Human genetics is the study of how genes influence human traits, diseases, and behaviors, including how genetic and non-genetic factors interact. Public health genetics applies advances in human genetics and genomics to improve public health and prevent disease. Genetic counselors work as members of a health care team, providing information and support to patients dealing with birth defects or genetic disorders and those who may be at risk for inherited conditions.

The Department of Human Genetics is dedicated to genetics graduate programs which focus on research, teaching, and service, and embrace three major research missions:

Pitt Public Health human genetics faculty and students currently are involved in varied research projects, including:

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Human Genetics Graduate Programs | Pitt Public Health

European Journal of Human Genetics

NPG will be exhibiting at the American Society of Human Genetics (ASHG) conference in Baltimore, USA from 6-10 October 2015. Visit the NPG stand for free copies, giveaways and more!

Volume 23, No 10 October 2015 ISSN: 1018-4813 EISSN: 1476-5438

2014 Impact Factor 4.349* 70/289 Biochemistry & Molecular Biology 36/167 Genetics & Heredity

Editor-in-Chief: G-J B van Ommen

Thank you to everyone who attended our ‘How to get published’ session at ESHG. For those who didn’t make it, please see our presentation and booklet which we hope will help with the whole process of publishing.

European Journal of Human Genetics offers authors the option to publish their articles with immediate open access upon publication. Open access articles will also be deposited on PubMed Central at the time of publication and will be freely available immediately. Find out more from the press release or our FAQs page.

The Practical Genetics series delivers a one-stop-shop information resource for genetics clinicians.

Clinical Utility Gene Cards, commissioned by EuroGentest, bring together information on specific diseases and provide clinicians with guidance on disease characteristics and genetic testing.

Latest research highlights and reviews from the NPG family of journals

Author Benefits of publishing in European Journal of Human Genetics

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European Journal of Human Genetics

Genetics – Smithsonian’s Human Origins Program


Through news accounts and crime stories, were all familiar with the fact that the DNA in our cells reflects each individuals unique identity and how closely related we are to one another. The same is true for the relationships among organisms. DNA, or deoxyribonucleic acid, is the molecule that makes up an organisms genome in the nucleus of every cell. It consists of genes, which are the molecular codes for proteins the building blocks of our tissues and their functions. It also consists of the molecular codes that regulate the output of genes that is, the timing and degree of protein-making. DNA shapes how an organism grows up and the physiology of its blood, bone, and brains.

DNA is thus especially important in the study of evolution. The amount of difference in DNA is a test of the difference between one species and another and thus how closely or distantly related they are.

While the genetic difference between individual humans today is minuscule about 0.1%, on average study of the same aspects of the chimpanzee genome indicates a difference of about 1.2%. The bonobo (Pan paniscus), which is the close cousin of chimpanzees (Pan troglodytes), differs from humans to the same degree. The DNA difference with gorillas, another of the African apes, is about 1.6%. Most importantly, chimpanzees, bonobos, and humans all show this same amount of difference from gorillas. A difference of 3.1% distinguishes us and the African apes from the Asian great ape, the orangutan. How do the monkeys stack up? All of the great apes and humans differ from rhesus monkeys, for example, by about 7% in their DNA.

Geneticists have come up with a variety of ways of calculating the percentages, which give different impressions about how similar chimpanzees and humans are. The 1.2% chimp-human distinction, for example, involves a measurement of only substitutions in the base building blocks of those genes that chimpanzees and humans share. A comparison of the entire genome, however, indicates that segments of DNA have also been deleted, duplicated over and over, or inserted from one part of the genome into another. When these differences are counted, there is an additional 4 to 5% distinction between the human and chimpanzee genomes.

No matter how the calculation is done, the big point still holds: humans, chimpanzees, and bonobos are more closely related to one another than either is to gorillas or any other primate. From the perspective of this powerful test of biological kinship, humans are not only related to the great apes we are one. The DNA evidence leaves us with one of the greatest surprises in biology: the wall between human, on the one hand, and ape or animal, on the other, has been breached. The human evolutionary tree is embedded within the great apes.

The strong similarities between humans and the African great apes led Charles Darwin in 1871 to predict that Africa was the likely place where the human lineage branched off from other animals that is, the place where the common ancestor of chimpanzees, humans, and gorillas once lived. The DNA evidence shows an amazing confirmation of this daring prediction. The African great apes, including humans, have a closer kinship bond with one another than the African apes have with orangutans or other primates. Hardly ever has a scientific prediction so bold, so out there for its time, been upheld as the one made in 1871 that human evolution began in Africa.

The DNA evidence informs this conclusion, and the fossils do, too. Even though Europe and Asia were scoured for early human fossils long before Africa was even thought of, ongoing fossil discoveries confirm that the first 4 million years or so of human evolutionary history took place exclusively on the African continent. It is there that the search continues for fossils at or near the branching point of the chimpanzee and human lineages from our last common ancestor.

Due to billions of years of evolution, humans share genes with all living organisms. The percentage of genes or DNA that organisms share records their similarities. We share more genes with organisms that are more closely related to us.

Humans belong to the biological group known as Primates, and are classified with the great apes, one of the major groups of the primate evolutionary tree. Besides similarities in anatomy and behavior, our close biological kinship with other primate species is indicated by DNA evidence. It confirms that our closest living biological relatives are chimpanzees and bonobos, with whom we share many traits. But we did not evolve directly from any primates living today.

DNA also shows that our species and chimpanzees diverged from a common ancestor species that lived between 8 and 6 million years ago. The last common ancestor of monkeys and apes lived about 25 million years ago.

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Genetics – Smithsonian’s Human Origins Program

Human Genetics Alert – Technologies which may contribute …

We are currently undergoing a technological revolution in genetics. It is widely expected that these changes will bring major health benefits. However, the human genetics revolution also raises profound social and ethical problems, including a possible resurgence of eugenics. There is a widespread concern that genetics is running far ahead of society’s ability to cope with these issues.

Human Genetics Alert (HGA) is an independent, secular watchdog group based in London, UK. We are not opposed to genetic research, and support abortion rights. However, we are opposed to some developments, such as genetic discrimination, cloning and inheritable (‘germ line’) genetic engineering of human beings.

Originally posted here:

Human Genetics Alert – Technologies which may contribute …

HOME – deCODE genetics


Headquartered in Reykjavik, Iceland, deCODE is a global leader in analyzing and understanding the human genome. Using our unique expertise and population resources, deCODE has discovered key genetic risk factors for dozens of common diseases ranging from cardiovascular disease to cancer.

See more here:

HOME – deCODE genetics

European Society of Human Genetics: Home

is a non-profit organization. Its aims are to promote research in basic and applied human and medical genetics, to ensure high standards in clinical practice and to facilitate contacts between all persons who share these aims, particularly those working in Europe. The Society will encourage and seek to integrate research and its translation into clinical benefits and professional and public education in all areas of human genetics.

The 2015 registration process for the European registered Clinical Laboratory Geneticist (ErCLG) by the European Board of Human Genetics has started and is open until September 15, 2015.

Information on eligibility criteria, required documents and the submission process can be found here.

Applications can be made exclusively via the new online submission tool.


We wish to thank almost 2,700participants and over 145 exhibiting companiesand their staff for having attended the ESHG Conference in Glasgow. We hope to see you in Barcelona in May 2016.

View the following sessions as web-cast:

-Opening Plenary Session- selected talks -ESHG-ASHG Building Bridges Symposium on “Genetic testing in children” -Plenary Debate: “Should all geneticists have their genome sequenced?” -Mendel Lecture -ESHG Award Lecture

Access the streaming

Videos are nowavailable as on-demand download.

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European Society of Human Genetics: Home

UCLA Human Genetics

The Department of Human Genetics is the youngest basic science department in the Geffen School of Medicine at UCLA. When the Department was launched just prior to the sequencing of the human genome, it was clear that the practice of genetics research would be forever changed by the infusion of massive amounts of new data. Organizing and making sense of this genomic data is one of the greatest scientific challenges ever faced by mankind. The knowledge generated will ultimately transform medicine through patient-specific treatments and prevention strategies.

The Department is dedicated to turning the mountains of raw genetic data into a detailed understanding of the molecular pathogenesis of human disease. The key to such understanding is the realization that genes not only code for specific proteins, but they also control the temporal development and maturation of every living organism through a complex web of interactions.

Housed in the new Gonda Research Center, the Department serves as a focal point for genetics research on the UCLA campus, with state of the art facilities for gene expression, sequencing, genotyping, and bioinformatics. In addition to its research mission, the Department offers many exciting training opportunities for graduate students, postdoctoral fellows, and medical residents. Our faculty and staff welcome inquiries from prospective students. We also hope that a quick look at our web pages will give you a better idea of the Department’s research and educational activities.

News Highlights

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UCLA Human Genetics