Pope’s call to help the vulnerable turns to the autistic at Vatican conference

by Michelle Boorstein from The Washington Post:
57 countries will update one another on such issues as genetic research, pain management and government policies toward people with autism.
It will also begin with a Mass and a monsignor preaching on suffering and will include presentations on how the church can better include autistic people in the core aspects of Catholic life, such as the sacraments of confession and Holy Communion. It will end with an audience Saturday with Francis, an event advocates hope will significantly move the needle on awareness, particularly in Spanish-speaking countries.
Bob and Suzanne Wright, Catholics and co-founders of the major U.S. advocacy group Autism Speaks, will give a presentation at the conference.
“We speak at colleges and places like that, but they don’t reach large audiences,” said Bob Wright, former chairman of NBC/Universal and grandfather of a teenage boy with autism. “Then we started with the religious aspect, but the problem is there aren’t any leaders who have large numbers. Most religions are split up. We zeroed in on the pope, and this pope in particular, because he has such a gift for reaching out to people, and he wants the church to be more inclusive.”

Organizing any conference on autism — which affects one in every 68 children, according to Autism Speaks — is challenging because of the range of opposing views on such issues as the role of vaccines in autism spectrum disorder. The conference doesn’t appear to touch on vaccines but includes a presentation on other potential environmental impacts.

Shedding Light on Down Syndrome

from Wake Forest University:
Research and internship support aspiring genetic counselor
Newswise — Shortly after birth, Charlie Saffian was diagnosed with Down syndrome.
His sister Eleanor was nine at the time. At first, she didn’t know what to expect of her new baby brother.
“I remember looking around my school cafeteria and thinking there are a lot of people here with special needs, and I know nothing about them,” she said. “I didn’t know what my baby brother was going to be like.”
Day after day, Saffian said she came to realize her brother’s condition, a genetic disorder where an extra chromosome is passed to a child from one of its parents, did not make him any less of a person.
“Charlie does chores like the rest of us and cheers on the Bruins like the rest of us. He beats me at Xbox every day,” she said. “Charlie will take longer to learn how to do multiplication and read, but he is going to be able to do all that on his own time.”
Eleanor Saffian, now a rising senior at Wake Forest University in Winston-Salem, N.C, said her lifelong relationship with Charlie inspired her to pursue a career as a genetic counselor – a job that will allow her to shed light on misperceptions about Down syndrome and help new parents with a Charlie of their own.

North Dakota Senate passes legislation protecting preborn with heartbeat, Down Syndrome

from Live Action News by Lauren Enriquez:
Why would a heartbeat not be considered life? It makes so much sense. These are the simple words of Rep. Bette Grande (R-Fargo), a North Dakota legislator who aligns common sense with legislation. This combination of logic and law tends to be avoided by the pro-abortion counterpart, as a quote from Elissa Berger of the ACLU attests: [W]e should be able to agree that this personal decision is best made by a woman and her family, not politicians.
This overused soundbite from the abortion lobby affirms the disconnect between common sense and legislation: does abortion affect one life or two? Two. So shouldn’t the abortion decision take into consideration both of the lives affected by it?
As a result of the hard work of commonsense legislators like Rep. Grande, North Dakota has installed legislation that protects pre-born children whose fetal heartbeat can be detected. This means that the right to life of pre-born children as young as – wait for it – five or six weeks’ gestation are now protected by North Dakota state law.
There is still work to be done, of course: pro-lifers won’t rest until all life is protected by law. But this breakthrough in North Dakota is certainly laudable progress, and it may serve as a catalyst for the more stringent laws needed to protect life beginning at fertilization.
As if this were not cause enough for celebration, North Dakota’s heartbeat legislation passed in the Senate on Friday alongside another phenomenal bill that will add unprecedented protections to genetically unique pre-born children, such as those with Down syndrome. The bill, also sponsored by Rep. Grande, is similar to bans on sex-selection abortion. It prevents pre-born children from receiving a death sentence based solely on an undesirable abnormality.
Rep. Grande does not mince words when addressing the rekindled phenomenon of eliminating genetically “abnormal” children arbitrarily. In a poignant but accurate comparison, she observed:

It takes you back to Hitler, and we know where that went. He started going after those with abnormalities, and I think it’s an absurdity we would go back to that kind of thing.

These two piece of legislation will make their last stop at Governor Dalrymple’s desk. The leader has indicated that he will sign the bills into law. We hope and pray for that day, and we applaud North Dakota for its daring efforts in the face of opposition.

Extra chromosome 21 removed from Down syndrome cell line

By Leila Gray from UW Health Sciences/UW Medicine:

University of Washington scientists have succeeded in removing the extra copy of chromosome 21 in cell cultures derived from a person with Down syndrome, a condition in which the body’s cells contain three copies of chromosome 21 rather than the usual pair.A triplicate of any chromosome is a serious genetic abnormality called a trisomy. Trisomies account for almost one-quarter of pregnancy loss from spontaneous miscarriages, according to the research team. Besides Down syndrome (trisomy 21), some other human trisomies are extra Y or X chromosomes, and Edwards syndrome (trisomy 18) and Patau syndrome (trisomy 13), both of which have extremely high newborn fatality rates.
In their report appearing in the Nov. 2 edition of Cell Stem Cell, a team led by Dr. Li B. Li of the UW Department of Medicine described how they corrected trisomy 21 in human cell lines they grew in the lab.  The senior scientists on the project were gene therapy researchers Dr. David W. Russell, professor of medicine and biochemistry, and Dr. Thalia Papayannopoulou, professor of medicine.
The targeted removal of a human trisomy, they noted, could have both clinical and research applications.
In live births, Down syndrome is the most frequent trisomy. The condition has characteristic eye, facial and hand features, and can cause many medical problems, including heart defects, impaired intellect, premature aging and dementia, and certain forms of leukemia, a type of blood cancer.
“We are certainly not proposing that the method we describe would lead to a treatment for Down syndrome,” Russell said.  “What we are looking at is the possibility that medical scientists could create cell therapies for some of the blood-forming disorders that accompany Down syndrome.”
For example, he said, someday Down syndrome leukemia patients might have stem cells derived their own cells, and have the trisomy corrected in these lab-cultured cells.  They could then receive a transplant of their own stem cells – minus the extra chromosome – or healthy blood cells created from their fixed stem cells and that therefore don’t promote leukemia, as part of their cancer care.
He added that the ability to generate stem cells with and without trisomy 21 from the same person could lead to better understanding of how problems tied to Down syndrome originate.  The cell lines would be genetically identical, except for the extra chromosome. Researcher could contrast, for example how the two cell lines formed brain nerve cells, to learn the effects of trisomy 21 on neuron development, which might offer insights into the lifelong cognitive impairments and adulthood mental decline of Down syndrome. Similar comparative approaches could seek the underpinnings of untimely aging or defective heart tissue in this genetic condition.
The formation of trisomies is also a problem in regenerative medicine research using stem cells. Russell and his team observed that their approach could also be used to revert the unwanted trisomies that often arise in creating stem cell cultures.
Figuring out the exact techniques for removing the extra chromosome was tricky, Russell said, but his colleague Li worked hard to solve several challenges during his first attempts at deriving the engineered cell lines.
“Dr. Li’s achievement was a tour de force,” Russell said.
The researchers used an adeno-associated virus as a vehicle to deliver a foreign gene called TKNEO into a particular spot on chromosome 21, precisely within a gene called APP, which sits on the long arm of the chromosome.  The TKNEO transgene was chosen because of its predicted response to positive and negative selection in specific laboratory growth mediums.  When grown in conditions that selected against TKNEO, the most common reason for cells to survive was the spontaneous loss of the chromosome 21 harboring the transferred gene. Other survival tactics were point mutations, which are single, tiny alterations in DNA base pairs; gene silencing, which meant TKNEO was “turned off” by the cell; or deletion of the TKNEO.
Russell explained a key advantage of this technique for getting rid of the entire extra chromosome: Once it was gone, nothing was left behind.
“Gene therapy researchers have to be careful that their approaches do not cause gene toxicity,” he said. This means, for example, that removal of a chromosome must not break or rearrange the remaining genetic code. This method shouldn’t do that.”
Other researchers on this study were Kai-Hsin Chang, Pei-Rong Wang and Roli K. Hirata. The project was supported by grants from Horizon Discovery and from the National Institutes of Health (DK55759, HL53750,GM086497, DK077864, and HL46557.)  The researchers declared no financial conflicts of interest.

Professor Lejeune – a patron saint of Down’s syndrome?

by Francis Phillips from the Catholic Herald:

The French geneticist’s Cause is needed more than ever

Another good news item from Rome Reports: at the current Rimini Conference of 2012 to discuss the economic crisis, education and inter-religious dialogue there is an exhibition to highlight the life and work of the late Professor Jerome Lejeune, 1926-1994, entitled “What is man that one is mindful of him?” It includes his writing desk, his microscope, his diaries and many photos. Professor Lejeune became world-famous in 1959 when, as a young Catholic doctor and scientist working in the field of genetics, he discovered the extra chromosome that causes Down’s syndrome or Trisomy 21, a common form of mental disability. His discovery opened up a whole new field of research and he was made the first professor of Fundamental Genetics at the Faculty of Medicine in Paris.
However, for Lejeune research was never an end in itself, though it brought him international recognition and, in 1969, the William Allen Memorial Award, the highest academic honour in genetics. According to Wiki, he was now “driven by a single ambition: to find a treatment that would bring relief to his patients as quickly as possible.” He viewed research “as inseparable from treatment and he was horrified as he gradually realised the consequences that misuse of his discovery would have for babies with Trisomy 21”, i.e. that it would be widely used to diagnose and then abort these disabled babies in the womb.
He wrote at the time, “That this rejection of medicine – of the whole biological brotherhood that binds the human family – should be the only practical application of our knowledge of Trisomy 21 is beyond heartbreaking.” According to his daughter Clara, who was to write her father’s biography, “Life is a Blessing” after his death from lung cancer on Easter Sunday 1994, he knew each of the 5000 patients in his clinic by their first name. His daughter said he decided he couldn’t accept abortion “not because he was a Christian but because he knew as a geneticist that life starts at conception.”
Lejeune became friends with another pro-life champion, the late Pope John Paul II who named him as the first president of the new Pontifical Academy for Life. He once told his daughter, without any bitterness, that his championship of life alongside academic research was to cost him the Nobel Prize. It also made him an outcast within the scientific community and his funding was withdrawn. He was not deterred. His daughter remembered that her father once came home to lunch and told the family about a little boy with Down’s syndrome who had seen a programme about pre-natal testing and who had begged him to save him from “those who want to kill us.” Clara Lejeune relates, “He was white and he said, “If I don’t protect them, I am nothing.” Professor Lejeune’s cause for sainthood is now being investigated.
Personally I hope his cause proceeds quickly. Never have we so needed the voices of doctors to defend life, whether those of disabled preborn babies, or now the elderly and sick. Lejeune knew that his mission as a doctor and geneticist was to save lives, not destroy them. When I read his biography I was deeply moved by its portrait of this humble man: a loving husband and father as well as a distinguished doctor. It actually inspired me (never having walked any distance in my life) to undertake a sponsored 25-mile walk in the millennium year 2000 for pro-life societies at university, which were then under attack from other “pro-choice” student groups. Never having done any fund-raising before, I managed to raise over £2000.
On a more personal note, when our youngest daughter was born with Down’s syndrome in 1990, I wrote for advice to Professor Lejeune at his research centre in Paris. He replied in longhand by return of post. I treasure his letter and the memory of this great and saintly man.

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from the Jérôme Lejeune Foundation:

In 1958, Professor Jérôme Lejeune, a doctor and researcher at the Necker Hospital in Paris, discovered an extra chromosome on the 21st pair and in so doing discovered the genetic cause of Down syndrome. As the father of modern genetics, he received may international awards for his work, including the Kennedy Prize and the Allen Memorial Award.

Trisomy 21 (Down Syndrome) is not a fatal condition, but a disability caused by a genetic error at conception and the most common single cause of birth defects in humans. Professor Lejeune was convinced that one day researchers would discover treatments that would largely restore the intellectual capabilities of individuals born with Down syndrome. The Jérôme Lejeune Foundation is committed to fulfilling Professor Lejeune’s dream, and in collaboration with researchers around the world conducts and funds research leading to targeted treatments to address issues related to cognition, memory, and speech, as well as the other comorbidities caused by the extra 21st chromosome.
Every year the Jérôme Lejeune Foundation provides funding to over 60 research teams who are pursuing treatments for genetic intellectual disabilities in the US, Canada, France, Israel, Italy, Lebanon, Spain, Switzerland, the UK, and other countries. The Foundation is the world’s oldest and largest funder of research to find treatments for Trisomy 21 and other genetic intellectual disabilities. Our grants are 100% funded by private donations.
The Foundation also supports clinical research through the the Institut Jérôme Lejeune, in Paris, such as the ACTHYF program which aims to establish a link between the use of folinic acid and thyroid hormone to improve the psychomotor development of toddlers with Down syndrome. The Institute offers lifelong, specialized medical care through a medical and paramedical team. The Institut Jérôme Lejeune treats over 3,600 patients annually from France and abroad.
All of the Jérôme Lejeune Foundation and its subsidiaries’ work has an ethical label which ensures the utmost respect for the value of each and every human life. The Foundation will only finance research that respects human life from conception to natural death. We do not support any projects that use products derived from human embryos or fetuses as research material.

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from the Down Syndrome Radio Podcast:
Our guest on this episode of the podcast is Mark Bradford, President of the Jérôme Lejeune Foundation, USA.  I had the pleasure of meeting Mark at the kickoff event for the Race Across America.  He is the Down Right Awesome Dad of seven children.  We probably could have spent the entire hour discussing how one handles seven kids, but the work being done by the Lejeune Foundation is so interesting we’ll have to save that topic for another show.  Mark gives us some history of Dr. Lejeune and the foundation that bears his name.  We also discuss how the foundation strives to achieve the three fundamental points of its mission.
Download Down Syndrome Radio, Episode #9 or listen via iTunes