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Vocapedia > Health > Genetics


Cells, DNA, Genes, genetic disorders / diseases,

Genetic engineering, Gene therapy, Human genome






Genetics 101        Video        National Geographic        12 July 2018


What is a genome,

and how are traits passed from generation to generation?


Learn how pea plants helped launch the study of genetics

and how the field of genetics research has evolved over time.

















How DNA Changed the World of Forensics        NYT        19 May 2014





How DNA Changed the World of Forensics        Video        Retro Report        The New York Times        19 May 2014


Before DNA testing,

prosecutors relied

on less sophisticated forensic techniques,

including microscopic hair analysis,

to put criminals behind bars.


But how reliable was hair analysis?




How DNA Changed the World of Forensics        By Retro Report        NYT

















deoxyribonucleic acid    DNA        UK






































































































deoxyribonucleic acid    DNA        USA



















































































gene sequencing        USA

















DNA sequencing        USA


Advances in technology

have made it much easier,

faster and less expensive

to do whole genome sequencing

— to spell out all three billion letters

in a person's genetic code.


Falling costs

have given rise to speculation

that it could soon become

a routine part of medical care,

perhaps as routine

as checking your blood pressure.


















DNA heritage






Doctors edge closer

to creating babies with DNA from three people        G        UK        8 June 2016






a strand of DNA        UK








DNA sequence        UK






DNA fingerprinting        USA






mutant DNA / mutations in DNA        UK






DNA test





routine DNA tests        UK






manipulate DNA        USA






repair DNA        USA
















Rosalind Elsie Franklin        1920-1958


In 1951

the young British scientist

began one of the key

scientific investigations

of the century.


Rosalind Franklin

produced an x-ray photograph

that helped show the structure of DNA,

the molecule that holds the genetic code

that underpins all life.


The discovery was integral

to the transformation

of modern medicine

and has been described

as one of the greatest

scientific achievements ever.

http://www.bbc.co.uk/programmes/p04r7h7k - Mon. 6 February 2017


http://www.bbc.co.uk/programmes/p04r7h7k - Mon. 6 February 2017















DNA analysis

for diseases such as cancer and Alzheimer's        UK






cancer genetics > gene markers > cancers        USA






New laws on body tissue ban secret DNA testing        UK
















DNA - What is DNA? - Basics of DNA        Plethrons        15 January 2014





DNA - What is DNA? - Basics of DNA        Plethrons        15 January 2014


Here's an animated video

on the basics of DNA, genes, and heredity.


DNA, or deoxyribonucleic acid,

is the hereditary material

in humans and almost all other organisms.


Nearly every cell in a person's body has the same DNA.

Most DNA is located in the cell nucleus (where it is called nuclear DNA),

but a small amount of DNA can also be found in the mitochondria

(where it is called mitochondrial DNA or mtDNA).


Here is an animated video

on the basics of DNA, genes, and heredity.











































What is a chromosome?


Chromosomes are X-shaped objects

found in the nucleus of most cells.


They consist

of long strands of a substance

called deoxyribonucleic acid,

or DNA for short.


A section of DNA

that has the genetic code

for making a particular protein

is called a gene.


The gene is the unit of inheritance,

and each chromosome may have

several thousand genes.


We inherit particular chromosomes

through the egg of our mother

and sperm of our father.


The genes on those chromosomes

carry the code that determines

our physical characteristics,

which are a combination

of those of our two parents.









proteins > protein folding


how proteins change shape

during cell division to carry out genetic functions        USA






chromosome        UK






rare chromosome disorder        USA















































gene        UK













gene        USA





















virus genes        USA






early Alzheimer's gene        USA






gene > a gene that codes for a protein called elastin        USA






faulty genes        USA






malfunctioning gene        USA






lethal gene        USA






cancer genes        UK






cancer > gene patterns        USA






gene > mutation        USA






gene > rare mutation

that protects even fat people

from getting Type 2 diabetes        USA






 gene sequencing        USA






genetic information > life insurers        USA































eugenics        UK






eugenics        USA
















human cell














immune cells        USA










rejuvenate human cells        USA










cell nucleus























isolate and patent human genes






























gene therapy for cancer and leukemia / cell-based gene therapy        USA




















genetic material > RNA






genetic testing





genetic screening





genetic fingerprinting





genetic engineer















Duchenne muscular dystrophy

- a genetic disease that causes muscles to waste away.            USA

















genetic disease / condition > alpha thalassemia major        USA


The condition,

alpha thalassemia major,

leaves red blood cells

unable to carry oxygen around the body,

causing severe anemia, heart failure

and brain damage.

































genetics        UK













genetics        USA
















medical genetics        USA







pharmacogenetics        USA






heredity        USA






epigenetics        UK






geneticists        USA






genetic entrepreneur

J. Craig Venter’s Synthetic Genomics > Company > Human Longevity       USA






genetic fingerprint        USA











produce genetically modified human beings /

genetically modified babies        USA





genetically engineer        USA






genetic engineering        USA








genetic enhancements        UK
















genetic disorders        UK








rare genetic disorder > MMDS        UK







genetic disorder >  spinal muscular atrophy        USA






genetic disorders > Tay-Sachs disease        USA






Dr. David Lawrence Rimoin        USA        1936-2012


medical geneticist

who made major discoveries

in the study of dwarfism and skeletal disorders

and helped develop large-scale testing

for inherited diseases































genetic disease > Huntington’s disease        UK / USA


hereditary disease

that causes brain degeneration,

disability and death























cancer gene        UK










rogue genes















hunam genome / genome        UK / USA


Our genome

is over 3 billion genetic “letters” long























decode the human genome / human genome project        UK/USA


















Human code fully cracked        UK        2003


Cambridge scientists in global consortium

spell out the 3bn letters of the genome,

50 years on from Crick and Watson's

model of DNA










Genome facts        USA


A rough draft of the human genome

was completed in June 2000.










Human Genome Project    1990s-2000s


The Human Genome Project

is an international research effort

to decode the human genome,

the complete genetic instructions

for a human being.








gene > glossary        USA






gene therapy        UK








gene therapy        USA








pioneering treatment > replacement gene        UK






genetics        UK






deoxyribo-nucleic-acid        DNA


The DNA of humans (...)

is composed of approximately 3 billion base pairs,

making up a total of almost a meter-long stretch of DNA

in every cell in our bodies.






understand heredity        USA






genetic test        USA






consumer genetic tests        USA






You can now order genetic tests off the Internet

and get your child's genome sequenced

for less than the cost of a new car        USA






genetic testing        USA






genetic testing dilemmas        USA






gene therapy > Parkinson's disease
















Down Syndrome        USA


Down syndrome is a genetic condition

in which a person has 47 chromosomes

instead of the usual 46.
















mouse egg










cell        USA






 senescent cells        USA






immunologist        USA






immunologist > Leonard Arthur Herzenberg        USA        1931-2013






hematologist        USA






Skin from heart attack patients

transformed into beating heart cells        UK        23 May 2012


The heart cells created from patients' skin

were at the same stage of development

as those of a newborn baby
















Researchers Say They Created a ‘Synthetic Cell’        2010

















play God        USA









J. Craig Venter

















biotech company        UK






Scientists turn dead cells into live tissue        UK        2006






converts a patient's skin cell into embryonic cells

and then new tissues to repair the body        USA






break open the embryo

before it implants in the uterus,

a stage at which it is called a blastocyst,

and take out the inner cell mass,

whose cells form all the tissues

in a human body





let a fertilized mouse egg divide three times

until it contained eight cells,

a stage just before

the embryo becomes a blastocyst





seven-cell embryo





be implanted in the mouse uterus





grow successfully to term






























product of a clinic embryo





test-tube babies










Lynn Margulis,

Evolution Theorist,

Dies at 73


November 24, 2011

The New York Times



Lynn Margulis, a biologist whose work on the origin of cells helped transform the study of evolution, died on Tuesday at her home in Amherst, Mass. She was 73.

She died five days after suffering a hemorrhagic stroke, said Dorion Sagan, a son she had with her first husband, the cosmologist Carl Sagan.

Dr. Margulis, who had the title of distinguished university professor of geosciences at the University of Massachusetts, Amherst, since 1988, drew upon earlier, ridiculed ideas when she first promulgated her theory, in the late 1960s, that cells with nuclei, which are known as eukaryotes and include all the cells in the human body, evolved as a result of symbiotic relationships among bacteria.

The hypothesis was a direct challenge to the prevailing neo-Darwinist belief that the primary evolutionary mechanism was random mutation.

Rather, Dr. Margulis argued that a more important mechanism was symbiosis; that is, evolution is a function of organisms that are mutually beneficial growing together to become one and reproducing. The theory undermined significant precepts of the study of evolution, underscoring the idea that evolution began at the level of micro-organisms long before it would be visible at the level of species.

“She talked a lot about the importance of micro-organisms,” said her daughter, Jennifer Margulis. “She called herself a spokesperson for the microcosm.”

The manuscript in which Dr. Margulis first presented her findings was rejected by 15 journals before being published in 1967 by the Journal of Theoretical Biology. An expanded version, with additional evidence to support the theory — which was known as the serial endosymbiotic theory — became her first book, “Origin of Eukaryotic Cells.”

A revised version, “Symbiosis in Cell Evolution,” followed in 1981, and though it challenged the presumptions of many prominent scientists, it has since become accepted evolutionary doctrine.

“Evolutionists have been preoccupied with the history of animal life in the last 500 million years,” Dr. Margulis wrote in 1995. “But we now know that life itself evolved much earlier than that. The fossil record begins nearly 4,000 million years ago! Until the 1960s, scientists ignored fossil evidence for the evolution of life, because it was uninterpretable.

“I work in evolutionary biology, but with cells and micro-organisms. Richard Dawkins, John Maynard Smith, George Williams, Richard Lewontin, Niles Eldredge and Stephen Jay Gould all come out of the zoological tradition, which suggests to me that, in the words of our colleague Simon Robson, they deal with a data set some three billion years out of date.”

Lynn Petra Alexander was born on March 5, 1938, in Chicago, where she grew up in a tough neighborhood on the South Side. Her father was a lawyer and a businessman. Precocious, she graduated at 18 from the University of Chicago, where she met Dr. Sagan as they passed each other on a stairway.

She earned a master’s degree in genetics and zoology from the University of Wisconsin and a Ph.D. in genetics from the University of California, Berkeley. Before joining the faculty at Massachusetts, she taught for 22 years at Boston University.

Dr. Margulis was also known, somewhat controversially, as a collaborator with and supporter of James E. Lovelock, whose Gaia theory states that Earth itself — its atmosphere, the geology and the organisms that inhabit it — is a self-regulating system, maintaining the conditions that allow its perpetuation. In other words, it is something of a living organism in and of itself.

Dr. Margulis’s marriage to Dr. Sagan ended in divorce, as did a marriage to Thomas N. Margulis, a chemist. Dr. Sagan died in 1996.

In addition to her daughter and her son Dorion, a science writer with whom she sometimes collaborated, she is survived by two other sons, Jeremy Sagan and Zachary Margulis-Ohnuma; three sisters, Joan Glashow, Sharon Kleitman and Diane Alexander; two half-brothers, Robert and Mark Alexander; a half-sister, Sara Alexander; and nine grandchildren.

“More than 99.99 percent of the species that have ever existed have become extinct,” Dr. Margulis and Dorion Sagan wrote in “Microcosmos,” a 1986 book that traced, in readable language, the history of evolution over four billion years, “but the planetary patina, with its army of cells, has continued for more than three billion years. And the basis of the patina, past, present and future, is the microcosm — trillions of communicating, evolving microbes.”

Lynn Margulis, Evolution Theorist, Dies at 73,






Researchers Say

They Created a ‘Synthetic Cell’


May 20, 2010

The New York Times



The genome pioneer J. Craig Venter has taken another step in his quest to create synthetic life, by synthesizing an entire bacterial genome and using it to take over a cell.

Dr. Venter calls the result a “synthetic cell” and is presenting the research as a landmark achievement that will open the way to creating useful microbes from scratch to make products like vaccines and biofuels. At a press conference Thursday, Dr. Venter described the converted cell as “the first self-replicating species we’ve had on the planet whose parent is a computer.”

“This is a philosophical advance as much as a technical advance,” he said, suggesting that the “synthetic cell” raised new questions about the nature of life

Other scientists agree that he has achieved a technical feat in synthesizing the largest piece of DNA so far — a million units in length — and in making it accurate enough to substitute for the cell’s own DNA.

But some regard this approach as unpromising because it will take years to design new organisms, and meanwhile progress toward making biofuels is already being achieved with conventional genetic engineering approaches in which existing organisms are modified a few genes at a time.

Dr. Venter’s aim is to achieve total control over a bacterium’s genome, first by synthesizing its DNA in a laboratory and then by designing a new genome stripped of many natural functions and equipped with new genes that govern production of useful chemicals.

“It’s very powerful to be able to reconstruct and own every letter in a genome because that means you can put in different genes,” said Gerald Joyce, a biologist at the Scripps Research Institute in La Jolla, Calif.

In response to the scientific report, President Obama asked the White House bioethics commission on Thursday to complete a study of the issues raised by synthetic biology within six months and report back to him on its findings. He said the new development raised “genuine concerns,” though he did not specify them further.

Dr. Venter took a first step toward this goal three years ago, showing that the natural DNA from one bacterium could be inserted into another and that it would take over the host cell’s operation. Last year, his team synthesized a piece of DNA with 1,080,000 bases, the chemical units of which DNA is composed.

In a final step, a team led by Daniel G. Gibson, Hamilton O. Smith and Dr. Venter report in Thursday’s issue of the journal Science that the synthetic DNA takes over a bacterial cell just as the natural DNA did, making the cell generate the proteins specified by the new DNA’s genetic information in preference to those of its own genome.

The team ordered pieces of DNA 1,000 units in length from Blue Heron, a company that specializes in synthesizing DNA, and developed a technique for assembling the shorter lengths into a complete genome. The cost of the project was $40 million, most of it paid for by Synthetic Genomics, a company Dr. Venter founded.

But the bacterium used by the Venter group is unsuitable for biofuel production, and Dr. Venter said he would move to different organisms. Synthetic Genomics has a contract from Exxon to generate biofuels from algae. Exxon is prepared to spend up to $600 million if all its milestones are met. Dr. Venter said he would try to build “an entire algae genome so we can vary the 50 to 60 different parameters for algae growth to make superproductive organisms.”

On his yacht trips round the world, Dr. Venter has analyzed the DNA of the many microbes in seawater and now has a library of about 40 million genes, mostly from algae. These genes will be a resource to make captive algae produce useful chemicals, he said.

Some other scientists said that aside from assembling a large piece of DNA, Dr. Venter has not broken new ground. “To my mind Craig has somewhat overplayed the importance of this,” said David Baltimore, a geneticist at Caltech. He described the result as “a technical tour de force,” a matter of scale rather than a scientific breakthrough.

“He has not created life, only mimicked it,” Dr. Baltimore said.

Dr. Venter’s approach “is not necessarily on the path” to produce useful microorganisms, said George Church, a genome researcher at Harvard Medical School. Leroy Hood, of the Institute for Systems Biology in Seattle, described Dr. Venter’s report as “glitzy” but said lower-level genes and networks had to be understood first before it would be worth trying to design whole organisms from scratch.

In 2002 Eckard Wimmer, of the State University of New York at Stony Brook, synthesized the genome of the polio virus. The genome constructed a live polio virus that infected and killed mice. Dr. Venter’s work on the bacterium is similar in principle, except that the polio virus genome is only 7,500 units in length, and the bacteria’s genome is more than 100 times longer.

Friends of the Earth, an environmental group, denounced the synthetic genome as “dangerous new technology,” saying that “Mr. Venter should stop all further research until sufficient regulations are in place.”

The genome Dr. Venter synthesized is copied from a natural bacterium that infects goats. He said that before copying the DNA, he excised 14 genes likely to be pathogenic, so the new bacterium, even if it escaped, would be unlikely to cause goats harm.

Dr. Venter’s assertion that he has created a “synthetic cell” has alarmed people who think that means he has created a new life form or an artificial cell. “Of course that’s not right — its ancestor is a biological life form,” said Dr. Joyce of Scripps.

Dr. Venter copied the DNA from one species of bacteria and inserted it into another. The second bacteria made all the proteins and organelles in the so-called “synthetic cell,” by following the specifications implicit in the structure of the inserted DNA.

“My worry is that some people are going to draw the conclusion that they have created a new life form,” said Jim Collins, a bioengineer at Boston University. “What they have created is an organism with a synthesized natural genome. But it doesn’t represent the creation of life from scratch or the creation of a new life form,” he said.

Researchers Say They Created a ‘Synthetic Cell’,






Report on Gene for Depression

Is Now Faulted


June 17, 2009

The New York Times



One of the most celebrated findings in modern psychiatry — that a single gene helps determine one’s risk of depression in response to a divorce, a lost job or another serious reversal — has not held up to scientific scrutiny, researchers reported Tuesday.

The original finding, published in 2003, created a sensation among scientists and the public because it offered the first specific, plausible explanation of why some people bounce back after a stressful life event while others plunge into lasting despair.

The new report, by several of the most prominent researchers in the field, does not imply that interactions between genes and life experience are trivial; they are almost certainly fundamental, experts agree.

But it does suggest that nailing down those factors in a precise way is far more difficult than scientists believed even a few years ago, and that the original finding could have been due to chance. The new report is likely to inflame a debate over the direction of the field itself, which has found that the genetics of illnesses like schizophrenia and bipolar disorder remain elusive.

“This gene/life experience paradigm has been very influential in psychiatry, both in the studies people have done and the way data has been interpreted,” said Dr. Kenneth S. Kendler, a professor of psychiatry and human genetics at Virginia Commonwealth University, “and I think this paper really takes the wind out of its sails.”

Others said the new analysis was unjustifiably dismissive. “What is needed is not less research into gene-environment interaction,” Avshalom Caspi, a neuroscientist at Duke University and lead author of the original paper, wrote in an e-mail message, “but more research of better quality.”

The original study was so compelling because it explained how nature and nurture could collude to produce a complex mood problem. It followed 847 people from birth to age 26 and found that those most likely to sink into depression after a stressful event — job loss, sexual abuse, bankruptcy — had a particular variant of a gene involved in the regulation of serotonin, a brain messenger that affects mood. Those in the study with another variant of the gene were significantly more resilient.

“I think what happened is that people who’d been working in this field for so long were desperate to have any solid finding,” Kathleen R. Merikangas, chief of the genetic epidemiology research branch of the National Institute of Mental Health and senior author of the new analysis, said in a phone interview. “It was exciting, and some people thought it was the finding in psychiatry, a major advance.”

The excitement spread quickly. Newspapers and magazines reported the finding. Columnists, commentators and op-ed writers emphasized its importance. The study provided some despairing patients with comfort, and an excuse — “Well, it is in my genes.” It reassured some doctors that they were medicating an organic disorder, and stirred interest in genetic testing for depression risk.

Since then, researchers have tried to replicate the gene finding in more than a dozen studies. Some found similar results; others did not. In the new study, being published Wednesday in The Journal of the American Medical Association, Neil Risch of the University of California, San Francisco, and Dr. Merikangas led a coalition of researchers who identified 14 studies that gathered the same kinds of data as the original study. The authors reanalyzed the data and found “no evidence of an association between the serotonin gene and the risk of depression,” no matter what people’s life experience was, Dr. Merikangas said.

By contrast, she said, a major stressful event, like divorce, in itself raised the risk of depression by 40 percent.

The authors conclude that the widespread acceptance of the original findings was premature, writing that “it is critical that health practitioners and scientists in other disciplines recognize the importance of replication of such findings before they can serve as valid indicators of disease risk” or otherwise change practice.

Dr. Caspi and other psychiatric researchers said it would be equally premature to abandon research into gene-environment interaction, when brain imaging and other kinds of evidence have linked the serotonin gene to stress sensitivity.

“This is an excellent review paper, no one is questioning that,” said Myrna Weissman, a professor of epidemiology and psychiatry at Columbia. “But it ignored extensive evidence from humans and animals linking excessive sensitivity to stress” to the serotonin gene.

Dr. Merikangas said she and her co-authors deliberately confined themselves to studies that could be directly compared to the original. “We were looking for replication,” she said.

Report on Gene for Depression Is Now Faulted,






Man freed by DNA testing

after 27 years


29 April 2008

USA Today


DALLAS (AP) — A Dallas man who spent more than 27 years in prison for a murder he didn't commit was freed Tuesday, after being incarcerated longer than any other wrongfully convicted U.S. inmate cleared by DNA testing.

James Lee Woodard stepped out of the courtroom and raised his arms to a throng of photographers. Supporters and other people gathered outside the court erupted in applause.

"No words can express what a tragic story yours is," state District Judge Mark Stoltz told Woodard at a brief hearing before his release.

Woodard, cleared of the 1980 murder of his girlfriend, became the 18th person in Dallas County to have his conviction cast aside. That's a figure unmatched by any county nationally, according to the Innocence Project, a New York-based legal center that specializes in overturning wrongful convictions.

"I thank God for the existence of the Innocence Project," Woodard, 55, told the court. "Without that, I wouldn't be here today. I would be wasting away in prison."

Overall, 31 people have been formally exonerated through DNA testing in Texas, also a national high. That does not include Woodard and at least three others whose exonerations will not become official until Gov. Rick Perry grants pardons or the Texas Court of Criminal Appeals formally accepts the ruling of lower courts that have already recommended exoneration.

Woodard was sentenced to life in prison in July 1981 for the murder of a 21-year-old Dallas woman found raped and strangled near the banks of the Trinity River.

He was convicted primarily on the basis of testimony from two eyewitnesses, said Natalie Roetzel, the executive director of the Innocence Project of Texas. One has since recanted in an affidavit. As for the other, "we don't believe her testimony was accurate," Roetzel said.

Like nearly all the exonorees, Woodard has maintained his innocence throughout his time in prison. But after filing six writs with an appeals court, plus two requests for DNA testing, his pleas of innocence became so repetitive and routine that "the courthouse doors were eventually closed to him and he was labeled a writ abuser," Roetzel said.

"On the first day he was arrested, he told the world he was innocent ... and nobody listened," Jeff Blackburn, chief counsel for the Innocence Project of Texas, said during Tuesday's hearing.

He even stopped attending his parole hearings because gaining his release would have meant confessing to a crime he didn't do.

"It says a lot about your character that you were more interested in the truth than your freedom," the judge told Woodard after making his ruling.

Blackburn and prosecutors hailed Tuesday's hearing as a landmark moment of frequent adversaries working together.

Since the DNA evidence was tied to rape and Woodard was convicted of murder, Innocence Project attorneys had to prove that the same person committed both crimes. They said they couldn't have done that without access to evidence provided by Dallas County District Attorney Craig Watkins' office.

"You've got to have very good lawyers with a lot of experience and skill ... working on both ends of this case, hard," Blackburn said. "And you've also got to have government power behind what you do."

Under Watkins, Dallas County has a program supervised by the Innocence Project of Texas that is reviewing hundreds of cases of convicts who have requested DNA testing to prove their innocence.

While the number of exonerations on Watkins' watch continues to grow, he said this one was a little different.

"I saw the human side of it, and seeing the human said of it just gives you more courage to advocate for issues like this," said Watkins, who had breakfast with Woodard on Tuesday morning. "It gives me that resolve to go even further to find out who (the killer) is so that we can get him into custody."

Woodard said his family was "small and scattered," although he pointed out a niece in the courtroom. He said his biggest regret was not being with his mother when she died.

"I can tell you what I'd like to do first: breathe fresh, free air," Woodard said during a news conference in the courtroom after the hearing. "I don't know what to expect. I haven't been in Dallas since buses were blue."

Man freed by DNA testing after 27 years,
UT, 29.4.2008,







Sleek, Fast and Focused:

The Cells That Make Dad Dad


June 12, 2007

The New York Times



We are fast approaching Father’s Day, the festive occasion on which we plague Dad with yet another necktie or collect phone call and just generally strive to remind the big guy of the central verity of paternity — that it’s a lot more fun to become a father than to be one. “I won’t lie to you,” said the great Homer Simpson. “Fatherhood isn’t easy like motherhood.” Yet in our insistence that men are more than elaborately engineered gamete vectors, we neglect the marvels of their elaborately engineered gametes. As the scientists who study male germ cells will readily attest, sperm are some of the most extraordinary cells of the body, a triumph of efficient packaging, sleek design and superspecialization. Human sperm are extremely compact, and they’ve been stripped of a normal cell’s protein-making machinery; but when cast into the forbidding environment of the female reproductive tract, they will learn on the job and change their search strategies and swim strokes as needed.

Sperm are also fast and as cute as tadpoles. They have chubby teardrop heads and stylish, tapering tails, and they glide, slither, bumble and do figure-eights. So while a father may not be entitled to take the same pride in his sperm as he does in his kids, it’s fair to celebrate the single-minded cellular commas that helped give those children their start.

Sperm are pretty much the tiniest cells in the human body. The head of a mature, semen-ready sperm cell spans about 5 microns, or two-thousandths of an inch, less than half the width of a white blood cell or a skin cell. And a sperm cell is absurdly dwarfed by its female counterpart, the egg, which, fittingly or not, is among the biggest cells in the body. At 30 times the width of a sperm, the egg is massive enough to be seen with the naked eye.

But men have the overwhelming quantitative edge in the gamete games. Whereas current evidence suggests that a human female is born with all the eggs she will have, and that only about 500 of her natal stock of one million will ever ripen and have a shot at fertilization, a male from puberty onward is pretty much a nonstop sperm bakery. Each testicle generates more than 4 million new sperm per hour, for a lifetime total of maybe 12 trillion sperm per man (although the numbers vary with the day and generally slope downward with age).

The average ejaculation consists mostly of a teaspoon’s worth of nonspermic seminal fluid, a viscous mix of sugars, citric acid and other ingredients designed to pamper and power the sperm cells and prepare them for difficult times ahead; the sperm proper account for only about 1 percent of the semen mass. Yet in that 1 percent may be found 150 million sperm, 150 million human aspirants yearning to meet their mammoth other halves.

To which one can crack, dream on. Not only are there far too few eggs to go around, but also the majority of sperm couldn’t fertilize an ovum if it were plunked down in front of them. “Only a perfectly normal sperm can penetrate an egg,” said Dr. Harry Fisch, a urologist at Columbia University Medical Center, “and the majority of sperm are abnormally shaped.” Some may have pinheads, others have two heads, some lack tails, a third don’t move at all. As a rule, Dr. Fisch said, a man is lucky if 15 percent of his sperm are serviceable. “One guy I saw had 22 percent,” he said, “but that’s rare.”

Creating sperm is a complex, multistep operation in which immature cells spend one or two months wending through a labyrinth of tubules coiled in the testes, at each stage losing a bit more of the blobby contours and yolky contents of standard cells and assuming the streamlined profile of sperm cells. The operation is a delicate one that must be performed at temperatures some 2 degrees below that of the body, which is why the testicles hang outside the body, where breezes can keep them cool; why a man hoping to become a father is advised to skip the hot baths and saunas; and why a bout of high fever can disrupt fertility for months.

The model sperm that emerges at tubule’s end has, like an insect, three basic body segments. Of crowning importance is the head, which is taken up largely by a supercondensed tangle of 23 chromosomes, half the complement of DNA found in a normal body cell and thus the right number to merge with an egg’s 23 chromosomes and begin tapping out a whole new body. At the tip of the sperm head is the acrosome, a specialized sack of enzymes that help the sperm penetrate through what Joseph S. Tash, a male fertility expert at the University of Kansas Medical Center, calls the “forest” of ancillary cells and connective tissue that surrounds the ripe, ready egg.

Below the head is the midpiece, which is packed with the tiny engines called mitochondria that lend the sperm its motility, and below the midpiece is the tail, a bundle of 11 entwined filaments that thrashes and propels a sperm forward at the estimable pace of one-twelfth of an inch per minute, the equivalent of a human striding at four miles an hour.

Sperm do not really hit their stride until they are deposited in the female reproductive tract, at which point chemical signals from the vaginal and cervical mucus seem to spark them to life. Released from the buffering folds of their seminal delivery blanket, they at first swim straight ahead, torpedo-style, “with very little back and forth of the head,” Dr. Tash said. They may linger in the cervical mucus for a couple of days, or cross the cervix and enter the uterus.

If an egg has burst from its ovarian follicle and been plucked by a fallopian tube, sperm can sense its signature, a telltale shift in calcium ions. The sperm become “hyperactivated,” said Moira O’Bryan, a sperm expert at Monash University in Australia, switching to “a crazed figure-eight motion” ideal for boring through barriers. The ovum eggs them on, signaling some to play the sacrificial kamikaze and explode their enzyme sacks prematurely, loosening the corridor for other, shapelier sperm to pass through intact. A few dozen fine-figured sperm find their way to the final barrier, the egg’s plasma membrane, where they waggle with all their crazy-eight might and beg to be chosen — but only one will be taken, will fuse with the egg and be absorbed into its rich inner sanctum.

In a fraction of a second, an electrical, ionic jolt dramatically changes the egg’s outer coat, to forestall the lethal intrusion of additional sperm.

The wheels are in motion. How do you like your new tie?

Sleek, Fast and Focused: The Cells That Make Dad Dad,
















Facing Life With a Lethal Gene


18 March 2007


















Facing Life With a Lethal Gene


March 18, 2007

The New York Times



The test, the counselor said, had come back positive.

Katharine Moser inhaled sharply. She thought she was as ready as anyone could be to face her genetic destiny. She had attended a genetic counseling session and visited a psychiatrist, as required by the clinic. She had undergone the recommended neurological exam. And yet, she realized in that moment, she had never expected to hear those words.

“What do I do now?” Ms. Moser asked.

“What do you want to do?” the counselor replied.

“Cry,” she said quietly.

Her best friend, Colleen Elio, seated next to her, had already begun.

Ms. Moser was 23. It had taken her months to convince the clinic at NewYork-Presbyterian Hospital/Columbia University Medical Center in Manhattan that she wanted, at such a young age, to find out whether she carried the gene for Huntington’s disease.

Huntington’s, the incurable brain disorder that possessed her grandfather’s body and ravaged his mind for three decades, typically strikes in middle age. But most young adults who know the disease runs in their family have avoided the DNA test that can tell whether they will get it, preferring the torture — and hope — of not knowing.

Ms. Moser is part of a vanguard of people at risk for Huntington’s who are choosing to learn early what their future holds. Facing their genetic heritage, they say, will help them decide how to live their lives.

Yet even as a raft of new DNA tests are revealing predispositions to all kinds of conditions, including breast cancer, depression and dementia, little is known about what it is like to live with such knowledge.

“What runs in your own family, and would you want to know?” said Nancy Wexler, a neuropsychologist at Columbia and the president of the Hereditary Disease Foundation, which has pioneered Huntington’s research. “Soon everyone is going to have an option like this. You make the decision to test, you have to live with the consequences.”

On that drizzly spring morning two years ago, Ms. Moser was feeling her way, with perhaps the most definitive and disturbing verdict genetic testing has to offer. Anyone who carries the gene will inevitably develop Huntington’s.

She fought her tears. She tried for humor.

Don’t let yourself get too thin, said the clinic’s social worker. Not a problem, Ms. Moser responded, gesturing to her curvy frame. No more than two drinks at a time. Perhaps, Ms. Moser suggested to Ms. Elio, she meant one in each hand.

Then came anger.

“Why me?” she remembers thinking, in a refrain she found hard to shake in the coming months. “I’m the good one. It’s not like I’m sick because I have emphysema from smoking or I did something dangerous.”

The gene that will kill Ms. Moser sits on the short arm of everyone’s fourth chromosome, where the letters of the genetic alphabet normally repeat C-A-G as many as 35 times in a row. In people who develop Huntington’s, however, there are more than 35 repeats.

No one quite knows why this DNA hiccup causes cell death in the brain, leading Huntington’s patients to jerk and twitch uncontrollably and rendering them progressively unable to walk, talk, think and swallow. But the greater the number of repeats, the earlier symptoms tend to appear and the faster they progress.

Ms. Moser’s “CAG number” was 45, the counselor said. She had more repeats than her grandfather, whose first symptoms — loss of short-term memory, mood swings and a constant ticking noise he made with his mouth — surfaced when he turned 50. But it was another year before Ms. Moser would realize that she could have less than 12 years until she showed symptoms.

Immediately after getting her results, Ms. Moser was too busy making plans.

“I’m going to become super-strong and super-balanced,” she vowed over lunch with Ms. Elio, her straight brown hair pulled into a determined bun. “So when I start to lose it I’ll be a little closer to normal.”

In the tumultuous months that followed, Ms. Moser often found herself unable to remember what normal had once been. She forced herself to renounce the crush she had long nursed on a certain firefighter, sure that marriage was no longer an option for her. She threw herself into fund-raising in the hopes that someone would find a cure. Sometimes, she raged.

She never, she said, regretted being tested. But at night, crying herself to sleep in the dark of her lavender bedroom, she would go over and over it. She was the same, but she was also different. And there was nothing she could do.


A Lesson in Stigma

Ms. Moser grew up in Connecticut, part of a large Irish Catholic family. Like many families affected by Huntington’s, Ms. Moser’s regarded the disease as a curse, not to be mentioned even as it dominated their lives in the form of her grandfather’s writhing body and unpredictable rages.

Once, staying in Ms. Moser’s room on a visit, he broke her trundle bed with his violent, involuntary jerking. Another time, he came into the kitchen naked, his underpants on his head. When the children giggled, Ms. Moser’s mother defended her father: “If you don’t like it, get out of my house and go.”

But no one explained what had happened to their grandfather, Thomas Dowd, a former New York City police officer who once had dreams of retiring to Florida.

In 1990, Mr. Dowd’s older brother, living in a veteran’s hospital in an advanced stage of the disease, was strangled in his own restraints. But a year or so later, when Ms. Moser wanted to do her sixth-grade science project on Huntington’s, her mother recoiled.

“Why,” she demanded, “would you want to do it on this disease that is killing your grandfather?”

Ms. Moser was left to confirm for herself, through library books and a CD-ROM encyclopedia, that she and her brothers, her mother, her aunts, an uncle and cousins could all face the same fate.

Any child who has a parent with Huntington’s has a 50 percent chance of having inherited the gene that causes it, Ms. Moser learned.

Her mother, who asked not to be identified by name for fear of discrimination, had not always been so guarded. At one point, she drove around with a “Cure HD” sign in the window of her van. She told people that her father had “Woody Guthrie’s disease,” invoking the folk icon who died of Huntington’s in 1967.

But her efforts to raise awareness soon foundered. Huntington’s is a rare genetic disease, affecting about 30,000 people in the United States, with about 250,000 more at risk. Few people know what it is. Strangers assumed her father’s unsteady walk, a frequent early symptom, meant he was drunk.

“Nobody has compassion,” Ms. Moser’s mother concluded. “People look at you like you’re strange, and ‘What’s wrong with you?’ ”

Shortly after a simple DNA test became available for Huntington’s in 1993, one of Ms. Moser’s aunts tested positive. Another, driven to find out if her own medical problems were related to Huntington’s, tested negative. But when Ms. Moser announced as a teenager that she wanted to get tested one day, her mother insisted that she should not. If her daughter carried the gene, that meant she did, too. And she did not want to know.

“You don’t want to know stuff like that,” Ms. Moser’s mother said in an interview. “You want to enjoy life.”

Ms. Moser’s father, who met and married his wife six years before Ms. Moser’s grandfather received his Huntington’s diagnosis, said he had managed not to think much about her at-risk status.

“So she was at risk,” he said. “Everyone’s at risk for everything.”

The test, Ms. Moser remembers her mother suggesting, would cost thousands of dollars. Still, in college, Ms. Moser often trolled the Web for information about it. Mostly, she imagined how sweet it would be to know she did not have the gene. But increasingly she was haunted, too, by the suspicion that her mother did.

As awful as it was, she admitted to Ms. Elio, her freshman-year neighbor at Elizabethtown College in Pennsylvania, she almost hoped it was true. It would explain her mother’s strokes of meanness, her unpredictable flashes of anger.

Ms. Moser’s mother said she had never considered the conflicts with her daughter out of the ordinary. “All my friends who had daughters said that was all normal, and when she’s 25 she’ll be your best friend,” she said. “I was waiting for that to happen, but I guess it’s not happening.”

When Ms. Moser graduated in 2003 with a degree in occupational therapy, their relationship, never peaceful, was getting worse. She moved to Queens without giving her mother her new address.

Wanting to Know

Out of school, Ms. Moser soon spotted a listing for a job at Terence Cardinal Cooke Health Care Center, a nursing home on the Upper East Side of Manhattan. She knew it was meant for her.

Her grandfather had died there in 2002 after living for a decade at the home, one of only a handful in the country with a unit devoted entirely to Huntington’s.

“I hated visiting him growing up,” Ms. Moser said. “It was scary.”

Now, though, she was drawn to see the disease up close.

On breaks from her duties elsewhere, she visited her cousin James Dowd, the son of her grandfather’s brother who had come to live in the Huntington’s unit several years earlier. It was there, in a conversation with another staff member, that she learned she could be tested for only a few hundred dollars at the Columbia clinic across town. She scheduled an appointment for the next week.

The staff at Columbia urged Ms. Moser to consider the downside of genetic testing. Some people battle depression after they test positive. And the information, she was cautioned, could make it harder for her to get a job or health insurance.

But Ms. Moser bristled at the idea that she should have to remain ignorant about her genetic status to avoid discrimination. “I didn’t do anything wrong,” she said. “It’s not like telling people I’m a drug addict.”

She also recalls rejecting a counselor’s suggestion that she might have asked to be tested as a way of crying for help.

“I’m like, ‘No,’ ” Ms. Moser recalls replying. “ ‘I’ve come to be tested because I want to know.’ ”

No one routinely collects demographic information about who gets tested for Huntington’s. At the Huntington’s Disease Center at Columbia, staff members say they have seen few young people taking the test.

Ms. Moser is still part of a distinct minority. But some researchers say her attitude is increasingly common among young people who know they may develop Huntington’s.

More informed about the genetics of the disease than any previous generation, they are convinced that they would rather know how many healthy years they have left than wake up one day to find the illness upon them. They are confident that new reproductive technologies can allow them to have children without transmitting the disease and are eager to be first in line should a treatment become available.

“We’re seeing a shift,” said Dr. Michael Hayden, a professor of human genetics at the University of British Columbia in Vancouver who has been providing various tests for Huntington’s for 20 years. “Younger people are coming for testing now, people in their 20s and early 30s; before, that was very rare. I’ve counseled some of them. They feel it is part of their heritage and that it is possible to lead a life that’s not defined by this gene.”

Before the test, Ms. Moser made two lists of life goals. Under “if negative,” she wrote married, children and Ireland. Under “if positive” was exercise, vitamins and ballroom dancing. Balance, in that case, would be important. Opening a bed-and-breakfast, a goal since childhood, made both lists.

In the weeks before getting the test results, Ms. Moser gave Ms. Elio explicit instructions about acceptable responses. If she was negative, flowers were O.K. If positive, they were not. In either case, drinking was acceptable. Crying was not.

But it was Ms. Elio’s husband, Chris Elio, who first broached the subject of taking care of Ms. Moser, whom their young children called “my Katie,” as in “this is my mom, this is my dad, this is my Katie.” They should address it before the results were in, Mr. Elio told his wife, so that she would not feel, later, that they had done it out of a sense of obligation.

The next day, in an e-mail note that was unusually formal for friends who sent text messages constantly and watched “Desperate Housewives” while on the phone together, Ms. Elio told Ms. Moser that she and her husband wanted her to move in with them if she got sick. Ms. Moser set the note aside. She did not expect to need it.

‘It’s Too Hard to Look’

The results had come a week early, and Ms. Moser assured her friends that the “Sex and the City” trivia party she had planned for that night was still on. After all, she was not sick, not dying. And she had already made the dips.

“I’m the same person I’ve always been,” she insisted that night as her guests gamely dipped strawberries in her chocolate fountain. “It’s been in me from the beginning.”

But when she went to work the next day, she lingered outside the door of the occupational therapy gym, not wanting to face her colleagues. She avoided the Huntington’s floor entirely, choosing to attend to patients ailing of just about anything else. “It’s too hard to look at them,” she told her friends.

In those first months, Ms. Moser summoned all her strength to pretend that nothing cataclysmic had happened. At times, it seemed easy enough. In the mirror, the same green eyes looked back at her. She was still tall, a devoted Julia Roberts fan, a prolific baker.

She dropped the news of her genetic status into some conversations like small talk, but kept it from her family. She made light of her newfound fate, though often friends were not sure how to take the jokes.

“That’s my Huntington’s kicking in,” she told Rachel Markan, a co-worker, after knocking a patient’s folder on the floor.

Other times, Ms. Moser abruptly dropped any pretense of routine banter. On a trip to Florida, she and Ms. Elio saw a man in a wheelchair being tube-fed, a method often used to keep Huntington’s patients alive for years after they can no longer swallow.

“I don’t want a feeding tube,” she announced flatly.

In those early days, she calculated that she had at least until 50 before symptoms set in. That was enough time to open a bed-and-breakfast, if she acted fast. Enough time to repay $70,000 in student loans under her 30-year term.

Doing the math on the loans, though, could send her into a tailspin.

“I’ll be repaying them and then I’ll start getting sick,” she said. “I mean, there’s no time in there.”


Finding New Purpose

At the end of the summer, as the weather grew colder, Ms. Moser forced herself to return to the Huntington’s unit.

In each patient, she saw her future: the biophysicist slumped in his wheelchair, the refrigerator repairman inert in his bed, the onetime professional tennis player who floated through the common room, arms undulating in the startlingly graceful movements that had earned the disease its original name, “Huntington’s chorea,” from the Greek “to dance.”

Then there was her cousin Jimmy, who had wrapped papers for The New York Post for 19 years until suddenly he could no longer tie the knots. When she greeted him, his bright blue eyes darted to her face, then away. If he knew her, it was impossible to tell.

She did what she could for them. She customized their wheelchairs with padding to fit each one’s unique tics. She doled out special silverware, oversized or bent in just the right angles to prolong their ability to feed themselves.

Fending off despair, Ms. Moser was also filled with new purpose. Someone, somewhere, she told friends, had to find a cure.

It has been over a century since the disease was identified by George Huntington, a doctor in Amagansett, N.Y., and over a decade since researchers first found the gene responsible for it.

To raise money for research, Ms. Moser volunteered for walks and dinners and golf outings sponsored by the Huntington’s Disease Society of America. She organized a Hula-Hoop-a-thon on the roof of Cardinal Cooke, then a bowl-a-thon at the Port Authority. But at many of the events, attendance was sparse.

It is hard to get people to turn out for Huntington’s benefits, she learned from the society’s professional fund-raisers. Even families affected by the disease, the most obvious constituents, often will not help publicize events.

“They don’t want people to know they’re connected to Huntington’s,” Ms. Moser said, with a mix of anger and recognition. “It’s like in my family — it’s not a good thing.”

Her first session with a therapist brought a chilling glimpse of how the disorder is viewed even by some who know plenty about it. “She told me it was my moral and ethical obligation not to have children,” Ms. Moser told Ms. Elio by cellphone as soon as she left the office, her voice breaking.

In lulls between fund-raisers, Ms. Moser raced to educate her own world about Huntington’s. She added links about the disease to her MySpace page. She plastered her desk at work with “Cure HD” stickers and starred in a video about the Huntington’s unit for her union’s Web site.

Ms. Moser gave blood for one study and spoke into a microphone for researchers trying to detect subtle speech differences in people who have extra CAG repeats before more noticeable disease symptoms emerge.

When researchers found a way to cure mice bred to replicate features of the disease in humans, Ms. Moser sent the news to friends and acquaintances.

But it was hard to celebrate. “Thank God,” the joke went around on the Huntington’s National Youth Alliance e-mail list Ms. Moser subscribed to, “at least there won’t be any more poor mice wandering around with Huntington’s disease.”

In October, one of Ms. Moser’s aunts lost her balance while walking and broke her nose. It was the latest in a series of falls. “The cure needs to be soon for me,” Ms. Moser said. “Sooner for everybody else.”


A Confrontation in Court

In the waiting room of the Dutchess County family courthouse on a crisp morning in the fall of 2005, Ms. Moser approached her mother, who turned away.

“I need to tell her something important,” Ms. Moser told a family member who had accompanied her mother to the hearing.

He conveyed the message and brought one in return: Unless she was dying, her mother did not have anything to say to her.

That Ms. Moser had tested positive meant that her mother would develop Huntington’s, if she had not already. A year earlier, Ms. Moser’s mother had convinced a judge that her sister, Nora Maldonado, was neglecting her daughter. She was given guardianship of the daughter, 4-year-old Jillian.

Ms. Moser had been skeptical of her mother’s accusations that Ms. Maldonado was not feeding or bathing Jillian properly, and she wondered whether her effort to claim Jillian had been induced by the psychological symptoms of the disease.

Her testimony about her mother’s genetic status, Ms. Moser knew, could help persuade the judge to return Jillian. Ms. Maldonado had found out years earlier that she did not have the Huntington’s gene.

Ms. Moser did not believe that someone in the early stages of Huntington’s should automatically be disqualified from taking care of a child. But her own rocky childhood had convinced her that Jillian would be better off with Ms. Maldonado.

She told her aunt’s lawyer about her test results and agreed to testify.

In the courtroom, Ms. Moser took the witness stand. Her mother’s lawyer jumped up as soon as the topic of Huntington’s arose. It was irrelevant, he said. But by the time the judge had sustained his objections, Ms. Moser’s mother, stricken, had understood.

The next day, in the bathroom, Ms. Maldonado approached Ms. Moser’s mother.

“I’m sorry,” she said. Ms. Moser’s mother said nothing.

The court has continued to let Ms. Moser’s mother retain guardianship of Jillian. But she has not spoken to her daughter again.

“It’s a horrible illness,” Ms. Moser’s mother said, months later, gesturing to her husband. “Now he has a wife who has it. Did she think of him? Did she think of me? Who’s going to marry her?”


Facing the Future

Before the test, it was as if Ms. Moser had been balanced between parallel universes, one in which she would never get the disease and one in which she would. The test had made her whole.

She began to prepare the Elio children and Jillian for her illness, determined that they would not be scared, as she had been with her grandfather. When Jillian wanted to know how people got Huntington’s disease “in their pants,” Ms. Moser wrote the text of a children’s book that explained what these other kinds of “genes” were and why they would make her sick.

But over the winter, Ms. Elio complained gently that her friend had become “Ms. H.D.” And an impromptu note that arrived for the children in the early spring convinced her that Ms. Moser was dwelling too much on her own death.

“You all make me so happy, and I am so proud of who you are and who you will be,” read the note, on rainbow scratch-and-write paper. “I will always remember the fun things we do together.”

Taking matters into her own hands, Ms. Elio created a profile for Ms. Moser on an online dating service. Ms. Moser was skeptical but supplied a picture. Dating, she said, was the worst thing about knowing she had the Huntington’s gene. It was hard to imagine someone falling enough in love with her to take on Huntington’s knowingly, or asking it of someone she loved. At the same time, she said, knowing her status could help her find the right person, if he was out there.

“Either way, I was going to get sick,” she said. “And I’d want someone who could handle it. If, by some twist of fate, I do get married and have children, at least we know what we’re getting into.”

After much debate, the friends settled on the third date as the right time to mention Huntington’s. But when the first date came, Ms. Moser wished she could just blurt it out.

“It kind of just lingers there,” she said. “I really just want to be able to tell people, ‘Someday, I’m going to have Huntington’s disease.’ ”


‘A Part of My Life’

Last May 6, a year to the day after she had received her test results, the subject line “CAG Count” caught Ms. Moser’s attention as she was scrolling through the online discussion forums of the Huntington’s Disease Advocacy Center. She knew she had 45 CAG repeats, but she had never investigated it further.

She clicked on the message.

“My mother’s CAG was 43,” it read. “She started forgetting the punch line to jokes at 39/40.” Another woman whose husband’s CAG count was 47 had just sold his car. “He’s 39 years old,” she wrote. “It was time for him to quit driving.”

Quickly, Ms. Moser scanned a chart that accompanied the messages for her number, 45. The median age of onset to which it corresponded was 37.

Ms. Elio got drunk with her husband the night Ms. Moser finally told her.

“That’s 12 years away,” Ms. Moser said.

The statistic, they knew, meant that half of those with her CAG number started showing symptoms after age 37. But it also meant that the other half started showing symptoms earlier.

Ms. Moser, meanwhile, flew to the annual convention of the Huntington’s Disease Society, which she had decided at the last minute to attend.

“Mother or father?” one woman, 23, from Chicago, asked a few minutes after meeting Ms. Moser in the elevator of the Milwaukee Hilton. “Have you tested? What’s your CAG?”

She was close to getting herself tested, the woman confided. How did it feel to know?

“It’s hard to think the other way anymore of not knowing,” Ms. Moser replied. “It’s become a part of my life.”

After years of trying to wring conversation from her family about Huntington’s, Ms. Moser suddenly found herself bathing in it. But for the first time in a long time, her mind was on other things. At a youth support group meeting in the hotel hallway, she took her place in the misshapen circle. Later, on the dance floor, the spasms of the symptomatic seemed as natural as the gyrations of the normal.

“I’m not alone in this,” Ms. Moser remembers thinking. “This affects other people, too, and we all just have to live our lives.”


Seizing the Day

July 15, the day of Ms. Moser’s 25th birthday party, was sunny, with a hint of moisture in the air. At her aunt’s house in Long Beach, N.Y., Ms. Moser wore a dress with pictures of cocktails on it. It was, she and Ms. Elio told anyone who would listen, her “cocktail dress.” They drew the quotation marks in the air.

A bowl of “Cure HD” pins sat on the table. Over burgers from the barbecue, Ms. Moser mentioned to family members from her father’s side that she had tested positive for the Huntington’s gene.

“What’s that?” one cousin asked.

“It will affect my ability to walk, talk and think,” Ms. Moser said. “Sometime before I’m 50.”

“That’s soon,” an uncle said matter-of-factly.

“So do you have to take medication?” her cousin asked.

“There’s nothing really to take,” Ms. Moser said.

She and the Elios put on bathing suits, loaded the children in a wagon and walked to the beach.

More than anything now, Ms. Moser said, she is filled with a sense of urgency.

“I have a lot to do,” she said. “And I don’t have a lot of time.”

Over the next months, Ms. Moser took tennis lessons every Sunday morning and went to church in the evening.

When a planned vacation with the Elio family fell through at the last minute, she went anyway, packing Disney World, Universal Studios, Wet ’n Wild and Sea World into 36 hours with a high school friend who lives in Orlando. She was honored at a dinner by the New York chapter of the Huntington’s society for her outreach efforts and managed a brief thank-you speech despite her discomfort with public speaking.

Having made a New Year’s resolution to learn to ride a unicycle, she bought a used one. “My legs are tired, my arms are tired, and I definitely need protection,” she reported to Ms. Elio. On Super Bowl Sunday, she waded into the freezing Atlantic Ocean for a Polar Bear swim to raise money for the Make-a-Wish Foundation.

Ms. Elio complained that she hardly got to see her friend. But one recent weekend, they packed up the Elio children and drove to the house the Elios were renovating in eastern Pennsylvania. The kitchen floor needed grouting, and, rejecting the home improvement gospel that calls for a special tool designed for the purpose, Ms. Moser and Ms. Elio had decided to use pastry bags.

As they turned into the driveway, Ms. Moser studied the semi-attached house next door. Maybe she would move in one day, as the Elios had proposed. Then, when she could no longer care for herself, they could put in a door.

First, though, she wanted to travel. She had heard of a job that would place her in different occupational therapy positions across the country every few months and was planning to apply.

“I’m thinking Hawaii first,” she said.

Then they donned gloves, mixed grout in a large bucket
of water and began the job.

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