The field is called regenerative medicine, technology that shows promise of repairing or replacing human organs with new ones, healing injuries without surgery and, someday, replacing cartilage lost to osteoarthritis.

New Hampshire could become one of the centers of the new industry and become the next Silicon Valley, says Manchester inventor Dean Kamen. The governor and Legislature, however, arent doing what they need to make the potential economic and intellectual boom more likely.

Sever the spinal chord of a zebra fish, an aquarium standby, and it will regrow in a couple of weeks. Remove a limb from a salamander, and it will grow another one indistinguishable from the first. And even some humans, especially when young, can regrow a new fingertip and fingernail on a digit severed above its last joint. Medical science is moving ever closer to performing such wonders.

3-D bioprinters that use biologic materials instead of printer ink are already printing replacement human skin. A University of Connecticut scientist and surgeon believes it will be possible to regenerate human knees sometime in the next decade and regrow human limbs by 2030.

At Ohio State University, a team has succeeded in using genetic material contained in a tiny microchip attached to skin and, with a tiny, Frankenstein-like zap of electricity, reprogram skin cells to produce other types of human cells. Turn a skin cell into say, a vascular system cell, and it will migrate to the site of a wound, spur healing and restore blood flow. Convert skin cells to brain cells and, with a few more steps, it could help stroke victims recover. The technologys potential is enormous.

Kamen created the portable insulin pump, and he and his team at DEKA Research in Manchesters millyard produced the Segway human transporter, a device that provides clean water in places that lack it, an external combustion engine that will soon heat and power part of the states mental hospital, and other inventions. Their track record helped Kamen and DEKA beat out plenty of other applicants to win $80 million in federal funds to found ARMI, the Advanced Regenerative Manufacturing Institute in Manchester. Total funding is now just shy of $300 million.

The governments aim is to spur technologies that could be used to treat injured soldiers but whats learned could aid everyone and make New Hampshire a mecca for scientists, production facilities, pharmaceutical companies and more. DEKA will not create the new technologies but use its inventing and engineering expertise to help companies scale up and speed up regenerative medicine technologies so they can be brought to the market more quickly at an affordable cost.

The states university system has partnered with DEKA to train students who will one day work in the biotech field. The educational infrastructure is in place, but its handicapped by the states sorry funding of higher education. New Hampshire regularly ranks last or next to last in state support and its students carry the most debt of any in the nation.

To make New Hampshire the biotech mecca Kamen envisions will require lawmakers to better fund higher education, support the regenerative manufacturing institute and make housing available. A high-tech company that wants to come to New Hampshire cant do so if its workers cant afford a home.

Regenerative medicine is expected to become a massive economic engine, one that will create jobs and improve lives while lowering health care costs. The Legislature should be doing all it can to make sure that at least some of that engine is designed and made in New Hampshire.

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Editorial: The growth of regenerative medicine - Concord Monitor

In an article published in American Journal of Human Genetics on 3 August 2017, an international group of 11 organisations with genetics expertise has issued a joint position statement, setting out 3 key positions on the question of human germline genome editing:

(1)At this time, given the nature and number of unanswered scientific, ethical, and policy questions, it is inappropriate to perform germline gene editing that culminates in human pregnancy.

(2)Currently, there is no reason to prohibit in vitro germline genome editing on human embryos and gametes, with appropriate oversight and consent from donors, to facilitate research on the possible future clinical applications of gene editing. There should be no prohibition on making public funds available to support this research.

(3)Future clinical application of human germline genome editing should not proceed unless, at a minimum, there is (a) a compelling medical rationale, (b) an evidence base that supports its clinical use, (c) an ethical justification, and (d) a transparent public process to solicit and incorporate stakeholder input.

This serendipitously timed statement comes on the heels of Shoukhrat Mitalipov and colleagues at Oregon Health and Science Universitys publication of an article in Nature reporting the successful use of CRISPR/Cas9 in human embryos to correct a mutation in a gene called MYBPC3 that causes a potentially fatal heart condition known as hypertrophic cardiomyopathy. The publication of this article has drawn the attention of the wider mainstream media and reignited the public debate as to the desirability, feasibility and ethics of editing the human genome in an inheritable way.

Gene editing - putting the paper in context

Whilst debates about the ethics of gene editing (both somatic and germline) go back decades, human germline genome editing has never before been realistically possible from a technical standpoint. That has changed with the advent of the CRISPR/Cas9 system, whose efficiency and ease of use has not only opened up the field of gene editing to a far larger number of companies and laboratories than previously, but has brought the editing of specific genes in a human embryo out of the realms of fantasy into reality. The potential for such technology to improve quality of life and prevent suffering caused by debilitating genetically inherited diseases has captured the imagination of many, particularly people living with currently intractable genetic conditions, their friends and family. However, the power of the technology has also conjured up the familiar spectres of playing God, the uncertainty of long term effects on individuals (and what it means to be human itself), marginalisation of the disabled or genetically inferior and the potential for inequality to manifest itself genetically as well as socioeconomically.

Germline cell editing poses significantly more concerning ethical and regulatory issues than somatic cell editing. The latter will only result in uninheritable changes to the genome of a population of cells in the particular individual treated, whilst the former involves genetic changes that will be passed down, for better or worse, to the individuals offspring.

In early 2015, the first study demonstrating that CRISPR/Cas9 could be used to modify genes in early-stage human embryos was published. Although the embryos employed for those experiments were not capable of developing to term, the work clearly demonstrated that genome editing with CRISPR/Cas9 in human embryos can readily be performed. That report stimulated many scientists and organisations to clarify their stance on the use of genome-editing methods. The United Kingdom and Sweden have both approved experiments for editing DNA of a human embryo but not those that involve implanting embryos. In the UK, Human Fertilisation and Embryology Authority (HFEA) has approved an application by developmental biologist Kathy Niakan, at the Francis Crick Institute in London, to use CRISPR/Cas9 in healthy human embryos. Currently, such experiments cannot be done with federal funding in the United States given a congressional prohibition on using taxpayer funds for research that destroys human embryos. Congress has also banned the U.S. Food and Drug Administration from considering a clinical trial of embryo editing. As would be expected, the safety requirements for any human clinical genome-editing application are extremely stringent.

However, earlier this year, US-based National Academy of Sciences (NAS) and the National Academy of Medicine (NAM), published a report that concluded using genome-editing technology, such as CRISPR/Cas9, to make alterations to the germline would be acceptable if the intention was to treat or prevent serious genetic disease or disorders, and the procedure was proven to be safe ( significant and, to an extent, subjective hurdles to be overcome).

The ASHG position paper

The position paper was the product of a working group established by the American Society of Human Genetics (ASHG), including representatives from the UK Association of Genetic Nurses and Counsellors, Canadian Association of Genetic Counsellors, International Genetic Epidemiology Society, and US National Society of Genetic Counsellors. These groups, as well as the American Society for Reproductive Medicine, Asia Pacific Society of Human Genetics, British Society for Genetic Medicine, Human Genetics Society of Australasia, Professional Society of Genetic Counsellors in Asia, and Southern African Society for Human Genetics, endorsed the final statement. The group, composed of a combination of research and clinical scientists, bioethicists, health services researchers, lawyers and genetic counsellors, worked together to integrate the scientific status of and socio-ethical views towards human germline genome editing.

As part of this process, the working group reviewed and summarised nine existing policy statements on gene editing and embryo research and interventions from national and international bodies, including The International Society for Stem Cell Research (2015) Statement on Human Germline Genome Modification, The Hinxton Group (2015) Statement on Genome Editing Technologies and the statement released following the International Summit on Human Gene Editing (2015) co-hosted by the National Academy of Sciences, National Academy of Medicine, Chinese Academy of Sciences and The Royal Society (UK). It was observed that differences in these policies include the very definition of what constitutes a human embryo or a reproductive cell, the nature of the policy tool adopted to promote the positions outlined, and the oversight/enforcement mechanisms for the policy. However, by and large, the majority of available statements and recommendations restrict applications from attempting to initiate a pregnancy with an embryo or reproductive cell whose germline has been altered. At the same time, many advocate for the continuation of basic research (and even preclinical research in some cases) in the area. One notable exception is the US National Institutes of Health, which refuses to fund the use of any gene-editing technologies in human embryos. Accordingly, due to the lack of public funding in the US, work such as that done by Mitalipovs group must be privately funded.

The working group considered that ethical issues around germline genome editing largely fall into two broad categories those arising from its potential failure and those arising from its success. Failure exposes individuals to a variety of health consequences, both known and unknown, while success could lead to societal concerns about eugenics, social justice and equal access to medical technologies.

The 11 organisations acknowledged numerous ethical issues arising from human germline genome editing, including:

exposing individuals to potentially harmful health consequences, since the magnitude of the potential risks of off-target or unintended consequences are yet to be determined;

the risk that if highly restrictive policies are placed on the conduct and public funding of basic research in the field, this could push research out of the public eye and public interest, underground to private funders or overseas, to organisations and territories where it would be subject to less regulation, transparency and oversight. This could result in research not being subject to ethical and peer oversight, such as ethics board approval, data sharing, peer review and dissemination of research resources;1

the de facto inability of future individuals who are the result of genetic editing, to consent to that editing;

concerns around the boundaries of eugenic use of gene editing technology, which the groups acknowledged could be used to reinforce prejudice and narrow definitions of normalcy in our societies; and

ensuring the gene editing technologies do not worsen existing or create new inequalities within and between societies, noting: Unequal access and cultural differences affecting uptake could create large differences in the relative incidence of a given condition by region, ethnic group, or socioeconomic status. Genetic disease, once a universal common denominator, could instead become an artifact of class, geographic location, and culture. A dangerous consequence of such inequality could be that reduced incidence and reduced sense of shared risk could affect the resources available to individuals and families dealing with genetic conditions.

Having touched on each of these issues, the group then outlined its consensus positions:

1. At this time, given the nature and number of unanswered scientific, ethical, and policy questions, it is inappropriate to perform germline gene editing that culminates in human pregnancy.

It was noted that there is not yet a high quality evidence base to support the use of germline genome editing, with unknown risk of health consequences and ethical issues still to be explored and resolved by society.

The group observed that two major categories of safety concerns are (i) the effect of unwanted or off-target mutations, and (ii) the potential unintended effects of the desired on-target base changes (edits) being made. It noted that it is reasonable to presume that any human genome-editing therapeutic application will require stringent monitoring of off-target mutation rates, but there remains no consensus on which methods would be optimal for this, or what a desirable maximum off-target mutation rate would be when these techniques are translated clinically. The working-group thus outlined its views on the minimum necessary developments that would be required (at least from a safety perspective) before germline genome editing could be used clinically:

definitions of broadly acceptable methodologies and minimum standards for measuring off-target mutagenesis;

consensus regarding the likely impact of, and maximum acceptable thresholds for, off-target mutations; and

consensus regarding the types of acceptable genome edits with regard to their potential for unintended consequences.

2. Currently, there is no reason to prohibit in vitro germline genome editing on human embryos and gametes, with appropriate oversight and consent from donors, to facilitate research on the possible future clinical applications of gene editing. There should be no prohibition on making public funds available to support this research.

The group agreed that conducting basic scientific [techniques?] involving editing of human embryos and gametes can be performed ethically via compliance with applicable laws and policies, and that any study involving in vitro genome editing on human embryos and gametes should be conducted under rigorous and independent governance mechanisms, including approval by ethics review boards and meeting any other policy or regulatory requirements. Public funding for such research was seen as important in ensuring that such research is not driven overseas or underground, where it would be subject to less regulation, oversight and transparency.

3. Future clinical application of human germline genome editing should not proceed unless, at a minimum, there is (a) a compelling medical rationale, (b) an evidence base that supports its clinical use, (c) an ethical justification, and (d) a transparent public process to solicit and incorporate stakeholder input.

Even if the technical data from preclinical research reaches a stage where it supports clinical translation of human germline genome editing, the working group stresses that many more things need to happen before translational research in human germline genome editing is considered. The criteria identified by the group in this position cut across medical, ethical, economic and public participation issues and represent the setting of an appropriately high and comprehensive standard to be met before human germline genome editing may be applied clinically. The group acknowledges the challenges of public engagement with such technical subject matter but encourages new approaches to public engagement and engagement of broader stakeholder groups in the public discussion.

The ethical implications of altering the human germline has been the subject of intense discussion in recent years, with calls for such work to be put on hold until the process of genome editing is better understood. ASHG supports somatic genome editing and preclinical (in vitro human and animal) germline genome research but feels strongly that it is premature to consider human germline genome editing in any translational manner at this time.

The working group concludes that Many scientific, medical, and ethical questions remain around the potential for human germline genome editing. ASHG supports somatic genome editing and preclinical (in vitro human and animal) germline genome research but feels strongly that it is premature to consider human germline genome editing in any translational manner at this time. We encourage ethical and social consideration in tandem with basic science research in the upcoming years.

This appears a reasonable position largely in line with the recommendations from the major national and international groups surveyed by the working group. It balances the need to encourage further basic research and validation with strong awareness of the ethical and societal implications of human germline genome editing, setting a high bar before such technology should be translated to the clinic. No doubt, however, the debate will continue, particularly in respect of public funding for such work. Whether the US will maintain their stance against public funding, in the face of international competition, and potential loss of talent and investment, remains to be seen.

Footnotes

1. In this connection it should be noted that China is a good example of a jurisdiction where there is very strong government investment in biotech, including CRISPR, and less regulatory standards than in the West. This combination of factors seems to be fuelling the pace of research there (many CRISPR firsts have come in China e.g. first CRISPR clinical trial in humans; first CRISPR editing of human embryos), but potentially at the risk of less rigorous, well controlled science being conducted (e.g. the recent retraction of the NgAgo paper).

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Human Germline Genome Editing Genetics bodies weigh in on debate with position paper - JD Supra (press release)

School districts are in a quandary over students who use medical marijuana, with some fearing that any help they offer could land them in jail.

Voters in November agreed to legalize pot for medical purposes but its also a popular recreational drug considered illegal by the federal government. And that has raised a number of questions as districts scramble to put policies in place. Among them:

-- Will local schools store the the drug on school premises or will parents have to come on campus to give it to their child?

-- What forms of the drug will be acceptable on campus? Can students apply cannabis ointments or patches on their skin or bring edible brownies in their lunchboxes?

-- What steps will schools take to prevent the drug from getting into the hands of other students?

Palm Beach County Schools Superintendent Robert Avossa said he plans to talk to School Board members to get a sense of what would best serve community.

We want to show compassion and also use common sense, he said. We may have to deal with it on a case-by-case basis.

Broward County school officials say they are awaiting guidance from the state Department of Education.

However, Lisa Maxwell, who heads the Broward County Principals and Assistants Association, said her group would fight any attempts to make administrators responsible for dispensing or storing the drugs. She said the federal government may disagree with the states decisions to allow minors to access the drugs, and that would put her members in legal peril.

We would vehemently oppose anyone being required to administer something that they could ultimately be criminally prosecuted for doing, she said.

School districts could potentially lose federal funding for school lunches and Title 1 programs for low-income students since the policies run afoul of federal government drug-free workforce policies, warned the Education Commission of the States, which studies education policy.

The expansion of marijuana use policies in the states has largely gone unchecked by federal officials; however, the expansion into schools presents a different set of issues and could meet some federal pushback, the commission wrote in a recent policy paper.

Seth Hyman of Weston is pushing Broward to move ahead on the issue.

His 11-year-old daughter, Rebecca, has a condition that requires her to use a wheelchair and a feeding tube. She also is prone to epileptic seizures.

Taimy Alvarez / Sun Sentinel

Seth Hyman plays with his daughter, Rebecca, 11, has 1P36 Deletion Syndrome, a genetic disorder, who benefits from medical marijuana in their Weston home.

Seth Hyman plays with his daughter, Rebecca, 11, has 1P36 Deletion Syndrome, a genetic disorder, who benefits from medical marijuana in their Weston home. (Taimy Alvarez / Sun Sentinel)

She takes medical marijuana orally three to four times a day, but she cant take it at her school, Manatee Bay Elementary, because the school doesnt have a policy that covered it.

I would like my daughter to have the option to get her medication however the law allows, he said.

Hyman believes school districts are protected due to the state law.

He works for Kelley Kronenberg, a Fort Lauderdale law firm, advising employers on how to comply with the law. He points to a 2013 memo by the U.S. Justice Department saying it was not a priority to enforce federal drug laws for people possessing marijuana for medical purposes. While the memo was from the Obama administration, Hyman said President Trump hasnt seemed concerned about medical marijuana.

Still, he admits there are no guarantees his administration wont try to ban it in schools,

But if that does come to fruition, there will probably be thousands of parents with medically complex kids kicking and screaming asking why they are being denied medicine that has not been proven to kill anyone, Hyman said. People have a right to some sort of improvement in their medical condition.

stravis@sunsentinel.com, 561-243-6637 or Twitter @smtravis

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Medical marijuana's legal, but schools fear crackdown if students use it - Sun Sentinel

Some are saying that Sen. John McCains brain cancer, glioblastoma, was the result of long-term cellphone usage. We had a dear friend, Dennis, who died of the same brain cancer, but I doubt that he ever once used a cellphone.

Where is the truth about the dangers of using your cellphone? Answer: Nobody really knows, but there are indications that caution is advised.

What is glioblastoma?

Glia comes from the same word in Greek that means glue. Glia refers to several cell types that are not neurons, but which, since their discovery in 1856, have been commonly thought of as the glue that holds your nervous system together. This is true in a sense, but glial cells do more than that.

Its true that glial cells surround neurons everywhere in your body and hold them in place like glue. They are also rich in blood vessels, and so they provide nutrients and oxygen to your neurons. In addition, glial cells form the myelin sheath that surrounds your neurons, insulating one neuron from another and also getting rid of pathogens and dead neurons.

The -oma ending in medical jargon frequently refers to a type of cancer, where cells begin to grow out of control. Blast refers to cells that are precursors to other cells. That is to say that before a particular glial cell comes to be, it is preceded by an undifferentiated cell called a blast. Blastomas begin in blasts.

In the case of glioblastoma, it usually begins in cells that have the potential to differentiate into the type of glial cell called an astrocyte. There are other types of cancer that begin with astrocytes, all called astrocytomas, but glioblastomas account for over half of them.

Glioblastomas are the most invasive of brain tumors in that they grow very rapidly and spread readily to surrounding tissues, making them difficult to remove surgically. They may contain more than one type of cell, so that treating and killing one type of cancerous cell may leave another type to continue growing.

Incidentally, there is also relatively recent research showing that various dysfunctions in your astrocytes may play a role in psychiatric disorders like autism and schizophrenia.

Its about radiation.

Radiation is all around you. Your voice radiates sound waves. A lighted match radiates heat and light waves. The X-ray machine radiates X-radiation. And more.

All of the atoms and molecules in the universe are constantly moving around, jiggling, bumping into things. Heat is the energy that something has because of this movement, and the faster this happens, the more heat is involved. For example, you see water boil because the molecules are moving around and bumping into each other so fast that the original space isnt big enough to contain them.

Sound waves are waves that physically displace air in certain patterns. You hear because of the pattern of the waves of air that enter your ear; without air, there is no sound. The faster the waves arrive at your ear, their frequency, the higher is the pitch you hear. The greater the top-to-bottom height of the waves, the amplitude, the louder is the sound.

Light is an example of electromagnetic radiation, which doesnt require air and is very different from sound and heat, although EMR may cause heat. Rather, EMR consists of perpendicular waves of electricity and magnetism that always travel at the same speed in a vacuum, the speed of light. EMR also behaves as though it were a string of particles, which are called photons. That is, EMR is both immaterial and material simultaneously.

EMR carries a certain amount of energy that is dependent on the frequency of the waves. Low frequency is low energy, and high frequency is high energy. The spectrum of EMR is conventionally divided into segments from low to high energy called radio waves (RF), microwaves, infrared (IR), visible light, ultraviolet, X-rays and gamma rays. A single gamma photon may have 100,000 times as much energy as a red light photon.

Dangers of EMR

Remember that your cells are chock full of DNA, the material that contains your genes, and genes are the biological computer programs that affect much of whats happening in you. A healthy life is critically dependent on your DNA genetic structure having integrity in itself.

As it happens, with exposure to high-energy EMR, like X-rays and gamma rays, a photon can knock an electron off a DNA molecule, ionize it, which can lead to cancer. At lower frequencies, such as RF and microwaves, there is generally not enough energy to disrupt the DNA in that way; the photons are not ionizing.

However, the lower-energy EMR does affect living tissue by generating heat as you may have experienced through sunburn. And youve probably cooked some food using the heat generated by EMR in a microwave oven.

How can your cellphone hurt you?

EMR is all around you: broadcasting radio and TV, Wi-Fi and Bluetooth, microwave cooking, cordless phones, cellphones and towers, satellite phones, and many more.

The problem with the RF and microwave EMR is that they can cause production of compounds called peroxynitrites in your cells. These are derived chemically from nitric oxide, which is an important contributor to your health under normal circumstances. When overactivated by RF radiation, however, NO is a major player in a complex chemical process that results in peroxynitrite damage to your mitochondria.

Mitochondria are those energy producing factors found in most of your cells, and their health is critical to preventing cancer. The most dense concentration of mitochondria you have is in your brain. So while talking on your cellphone, or cordless phone, you are directly applying RF radiation to a most RF-sensitive area of your body.

It was long thought that genetic mutation was the primary cause of cancer. However, research has shown that while genetic mutation is often causative, its only a secondary cause of cancer. The primary cause lies with your mitochondria. That is, mitochondrial damage happens first, and then triggers genetic mutations that may lead to cancer. For more information, see my June 17, 2016, column, The prevention and treatment of cancer.

Research: inconclusive, but suggestive

There has been research into the effects of RF radiation on human health, and especially cancer. Much of the research has been limited and of poor quality, and so its difficult to conclude definitely that cellphone usage will cause cancer.

While not conclusive, however, there is enough credible evidence suggesting a link between cellphones and cancer that the International Agency for Research on Cancer says that RF radiation is a possible human carcinogen. There is a growing body of evidence supporting that link, and urging caution.

How to be cautious

It seems extremely unlikely that we will stop using cell or cordless phones in the foreseeable future. There are, however, several things you can do to minimize your risk of disease from RF radiation.

First, if you must hold the phone to your head, keep your conversations short.

Better yet is to keep the phone away from your body by using its speaker phone feature or by sending text messages instead of having a conversation.

Limit the use of your phone when the reception is weak, three bars or less. The reason is that a weak signal forces your phone to increase the power of its RF signal in order to communicate with the cell tower.

Carry your phone away from your body in a purse or backpack if you can. Separation even as little as an inch between you and the phone antenna can make a big difference in the amount of RF radiation youre receiving.

Its a question mark.

Did McCains cellphone usage cause his brain cancer? We cant know that, and we cant know if your pattern of cellphone and cordless phone usage will damage your health. We do know that there are real risks associated with the use of these phones, and its a simple matter to minimize them.

Bob Keller maintains a holistic pain management practice in Newburyport. His book, Making Sense of Medicine: Medical Matters Made Simple, is available locally or online. He can be reached at 978-465-5111 or bob@myokineast.com.

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Making Sense of Medicine: Is your cellphone killing you? - The Daily News of Newburyport

CHARLOTTESVILLE, Va. (WVIR) -

The University of Virginia School of Medicine is using a $50,000 donation to further research for an unnamed, rare genetic disorder.The money comes from the Bow Foundation which works to help people affected by the disease.

Right now the disease is fairly new; it was only discovered in the past year and has only 50 known patients.The disorder has mainly been targeting children, and can cause seizures, severe development delays, and movement disorders.

"By making the cells that we're making from the first patients, we'll then be able to compare those cells with other researchers and really broaden the research in this field. In a way that wouldn't be possible without this initial funding, Mike McConnell, UVA professor and researcher, said.

The school says they still know very little about this disease, but the funding is a step in the right direction.

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UVA School of Medicine Using Grant to Research Rare Genetic Disorder - NBC 29 News

August 10, 2017 Topography of the primary motor cortex, on an outline drawing of the human brain. Different body parts are represented by distinct areas, lined up along a fold called the central sulcus. Credit: public domain

Genes for many may be widely associated with determining certain traits and characteristics. Now a study co-led by John H. Martin of The CUNY School of Medicine at The City College of New York is demonstrating that they could also influence neural motor skills. This could lead to new insights in the treatment of motor skills impairments such as Cerebral Palsy.

Martin and his collaborators from Cincinnati Children's Hospital Medical Center, Yutaka Yoshida and Zirong Gu, found that the lost function of two genes prevent infant laboratory mice from developing motor skills as they mature into adults. The cause is neural circuits between the brain's motor cortex region and the spinal cord that did not properly reorganize in mice as they matured. These circuits are part of the cortical spinal network, which coordinates the activation of muscles in limbs.

The mice were bred to lack molecular signaling from the Bax/Bak genetic pathway. Through a variety of experiments, the researchers demonstrated how Bax/Bak's downstream molecular targets are vital to developing appropriately sophisticated connections between the motor cortex, spinal circuits and opposing extensor/flexor muscle groups in the animals.

"If mutations in the Bax/Bak pathway are found in human patients with developmental motor disabilities, these findings could be very translational and lead to possible medical applications," said Yoshida, Martin's co-lead author.

Martin said it is believed that neuronal activity and movement experiences regulate the formation and function of motor circuits as an animal or person matures. "We show that the Bax/Bak pathway is important for this process. This finding may help us better understand the underlying biological mechanisms of motor development," noted.

The team's goal is for future studies to determine whether disruptions in Bax/Bak pathway are implicated in some people with skilled motor disabilities and whether it also regulates reorganization of other circuits in the mammalian central nervous system.

The study was published in the journal Neuron.

Explore further: Study suggests genetic reason for impaired skilled movements

Journal reference: Neuron

Provided by: City College of New York

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Researchers link genes and motor skills development - Medical Xpress

The father of a boy with a rare genetic mutation has accused a scientist of exploiting his child by proclaiming the defect a genetic syndrome and naming it after herself.

At an impasse with scientists investigating, publicizing, and interpreting his sons condition, the father seems willing to use any leverage he can muster to remove the syndrome entry in an online genetic disease database. Based solely on an email he obtained from the database director, the father became convinced that if the paper underpinning the entry were retracted, the syndrome would go down with it. So earlier this year, he withdrew his consent and asked the journal that published the paper for a retraction, based on improper patient consent. He has also threatened to lob accusations of research misconduct at the papers last author.

Marc Pieterse, of The Netherlands, is the father of Vincent, a teenager who has a mutation in the RPS23 gene that has only been found in one other person, so far. In March, an international team of researchers published a paper on Vincents RPS23 mutation in the American Journal of Human Genetics (AJHG), linking it to defective ribosomes, organelles involved in protein synthesis.

One of the scientists Pieterse engaged several years ago is Alyson MacInnes, a rare disease researcher at the University of Amsterdams Academic Medical Center. She is last author of the AJHG paper and the person whose name is now connected to an entry in the Online Mendelian Inheritance in Man (OMIM) database. MacInnes told Retraction Watch that, contrary to what Pieterse claims, she played no direct role in naming the syndrome; OMIM confirmed this account.

The OMIM entry for MacInnes Syndrome, which links the RPS23 mutation with a collection of features that resemble Vincents hearing loss, issues with the hands was created on March 29, weeks after the paper was published. Pieterse said he was shocked when he found it in April as he was browsing the database.

Pieterse told us he feels used and fears that the designation will stigmatize his sons mutation. A syndrome is a disease, he said. Now, he wants the database entry either changed he prefers the umbrella term ribosomopathy, which is used in the paper or taken down.

Believing MacInnes submitted Vincents condition for consideration, Pieterse demanded she find a way to remove it. When she didnt respond, he went directly to AJHG and OMIM to get the paper and syndrome entry removed.

So far, nothing has worked.

A campaign begins

The Pieterses found out about Vincents mutation after a long diagnostic odyssey that ultimately resorted to sequencing all the protein-coding regions of Vincents genome. In 2015, the Journal of the American Medical Association published a news feature on Vincents diagnosis, saying it heralded a new era of clinical genomics.

Marc is a former telecommunications engineer and entrepreneur who has shifted his focus to raising his four children. He told Retraction Watch that although hes not a scientist, in the years since receiving Vincents diagnosis he has committed himself to advocating for further study of the mutation and has even co-authored a paper on RPS23. Marc claims he played a role in connecting MacInnes, Baserga, and several other European scientists, who eventually published the AJHG paper together.

When Pieterse found the OMIM entry for MacInnes syndrome, he believed that MacInnes had created it to boost her career. He told us that after he found it, he tried asking her to take it down. However, their relationship had at that point already suffered a communication breakdown and he didnt hear back. This further upset him and he began a campaign to bring down the entry by any means possible.

But MacInnes told us she had nothing to do with either the OMIM entrys creation or its naming:

I did not submit this paper to OMIM or in any way initiate this entry as a syndrome. This was independently picked up by OMIM and registered as such; apparently such registrations are made upon their decision only.

OMIM director Ada Hamosh confirmed this to Retraction Watch:

Dr. Macinnes did not ask for this to be named after herself and did not bring it to our attention.

We are dealing with this gene-phenotype relationship exactly as we would any other. We did this because this is what we do.

Hamosh, a geneticist at Johns Hopkins University, told us that the term syndrome is for a constellation of features and that the naming was done in accordance with policies that have long been in place at OMIM:

Sometimes something has too many features to be described succinctly. In that case, the default way to name something is to use the first authors last name and last authors last name.

Indeed, Hamosh told us that at first the syndrome was called Paolini-MacInnes syndrome, after first author Nahuel Paolini, of the University of Amsterdam. However, Hamosh said OMIM later realized there were four co-first authors. OMIM never adds more than three names to a syndrome, so Hamosh simply named it after MacInnes:

Given how little we know about it, it makes more sense to name it eponymously than after some features I cant put my hands on, especially since we have a policy on not ever naming something after a gene.

Its stigmatizing

Part of Pieterses issue with dubbing the condition a new syndrome is the early and ongoing nature of RPS23 research, and he isnt alone. In an email to Hamosh, MacInnes co-author Susan Baserga, a professor at the Yale School of Medicine, said:

I was very surprised that you are so pressed to name the phenotype as a new syndrome, especially since the clinical findings are so non-specific. I find this very odd indeed, and worry that it muddles the medical and genetic literature instead of providing clarity. This is so new that I am not even sure that it is a syndrome, and worry that it is presumptuous at best and wrong at worst.

Baserga, who did not respond to our requests for comment, also suggested that OMIM simply call the condition a ribosomopathy, as the AJHG paper does. But Hamosh told Retraction Watch:

We never, ever, ever, name a disease after a gene.

Gene symbols are not stable. More fundamentally, many, many, many genes have more than one condition associated with them. It is not a good idea to put a gene name into a disease name. Thats why we wont call it RPS23 ribosomopathy. Its not personal, we wont do this for any gene.

Pieterse told us that neither Hamosh, nor anybody else from OMIM, has ever informed him that OMIM itself created the entry and that MacInnes Syndrome is the result of standard naming procedures.

Like MacInnes, Hamosh wont respond to his attempt at contact. But Pieterse has obtained an email chain, from late April, between those two scientists, as well as Baserga. In it, Hamosh wrote:

Are you planning to retract or correct the paper to indicate the apparent uncertainty regarding its conclusions? If so, we will remove the phenotype and reclassify the variants.

Niether MacInnes nor Baserga thought a retraction was necessary, but this exchange convinced Pieterse that a retraction would force OMIM to remove the entry. So he wrote MacInnes to inform her he was withdrawing his parental consent and asked AJHG to retract the paper. Pieterse told Retraction Watch that the consent form he submitted to the University of Freiburgs medical center, in Germany (cells used in the study were created there) was very broad and that he believed it would allow him get the paper pulled.

Readers may recall some of the cases weve covered in which patient consent issues have led to papers being retracted. Pieterses situation most closely resembles a story we covered in 2015, where the authors requested a retraction from the Journal of Medical Case Reports after a legal guardian withdrew permission after publication.

But his attempt to trigger retraction didnt work. AJHG editor David Nelson, of the Baylor College of Medicine, told Pieterse the journal had looked into the situation but found nothing improper. According to an email shared by Pieterse, Nelson wrote:

Because there was no reason to retract the article due to misrepresentation of scientific content, we investigated the issues around withdrawal of patient consent. We have been in communication with the [University of Amsterdam Academic Medical Center] Biobank Committee and Medical Ethics Committee and they have confirmed that withdrawal from the study is not relevant to the article and data that have been published already.

Given the serious implications of a retraction on the journal, the authors of the article, and the scientific record, we have therefore decided that the American Journal of Human Genetics will not retract the article.

In an email to Retraction Watch, Nelson expanded on what he told Pieterse:

Our understanding from the authors and their institutions who obtained and approved consent for this study is that it is possible for research subjects to withdraw their consent at any time and that samples and information should be destroyed upon withdrawal. However, published scientific articles deriving from the studies are not subject to the consent withdrawal and this was confirmed by individuals familiar with European Union Regulations relating to personal data.

Pieterse told us that knows a retraction would be counterproductive to his long-term goal, which is to see the research around Vincents mutation grow. But he still wants to see the OMIM entry come down:

At a certain moment, people are going to cite OMIM in genetics papers and its going to spread. If you want to correct something, you should correct it fast. Once the internet is soaked, you cannot do that.

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Fearing stigmatization, patient's father seeks retraction of paper on rare genetic mutation - Retraction Watch (blog)

What percentage of prostate cancer cases are caused by genetics?

Most cases of prostate cancer are caused by genetic alterations. The problem is that when you break it down to very specific, identifiable, inherited prostate cancer risk genes, we have very few at the present time. All tumors are driven by genetics, but when you look at specific inherited risk, our current level of understanding is that about 10% to 15% of patients can have a clearly identifiable inherited component to their prostate cancer.

This is a very active area of research. Please talk about whats new and exciting in the world of prostate cancer genetics.

The completion of the Human Genome Project in 2003 opened the door for not only basic science advances but drove the clinical applications of genomic and genetics. Urologists have recently become very familiar with the genomics of prostate tumors studying somatic mutations to help guide treatment decisions. The area we are now becoming interested in is known as germline testing or the study of inherited genetics. Weve been able to identify more and more inherited genetic alterations in medicine. The traditional ones that we have the most familiarity with are the BRCA1 and BRCA2 abnormalities associated with hereditary breast and ovarian cancer. But it turns out that a significant number of men can also have BRCA1 or BRCA2 genetic alterations that can confer an increased risk of prostate cancer.

Also see: Higher reclassification rate seen with saturation biopsy

Several newer genes such as HOXB13 and ATM have also been identified as being associated with prostate cancer. Importantly, were recognizing that not only can prostate cancer run in families but it also can be related to breast cancer, ovarian cancer, pancreatic cancer, melanoma, and Lynch syndrome in other family members. This area of research is giving us some direction on how urologists can think about approaching our patients concerning the need for more detailed family histories.

Lastly, genetic panels are now being offered by commercial laboratories specifically for prostate cancer. Urologists need to be aware that these panels are out there, and the best way to utilize these genetic testing panels is something were all going to have to learn in the coming years.

Originally posted here:

How prostate cancer genetics will change front-line care - ModernMedicine

TUESDAY, Aug. 8, 2017 (HealthDay News) -- People with a particular genetic cause of autism show structural abnormalities in the brain that are readily detected with noninvasive imaging, according to a new study.

Using MRI brain scans, researchers found clear brain structure abnormalities in people with autism caused, in part, by defects in chromosome 16.

Those MRI findings were, in turn, related to particular impairments, such as problems with communication and social skills.

It all suggests that brain imaging could one day be used to spot young children most in need of therapy for an autism spectrum disorder, the study authors said. It's estimated that one in 68 U.S. children is "on the spectrum," and symptoms usually appear early in life.

The study included 158 people who carried either of two defects in chromosome 16 that raise the risk of autism.

The flaws are found in a small piece of the chromosome known as p11.2. In some cases, people are missing the p11.2 portion -- which is known as a deletion. In other cases, there is an extra copy of it (known as a duplication).

Together, the defects are thought to contribute to less than 1 percent of all autism cases, said Dr. Elliott Sherr, the senior researcher on the study.

Sherr's team found that p11.2 deletions and duplications were each linked to specific brain structure abnormalities that were visible on MRI.

People with a deletion had excess tissue near the brain stem, and a thick, abnormally shaped corpus callosum -- a bundle of fibers that connects the left and right sides of the brain.

In contrast, people with a p11.2 duplication had a thin corpus callosum and "undergrowth" in certain other areas of brain tissue.

"Their brains look very different," said Sherr, a professor of neurology at the University of California, San Francisco.

And those structural abnormalities appear to correlate with different types of impairments, the study found.

The MRI findings in deletion carriers were tied to problems with communication and social skills. Meanwhile, the findings in duplication carriers were linked to lower IQ scores and problems with verbal skills.

What does it all mean? It's not clear yet, Sherr said.

"What we can say is, there's a strong link between these anatomical features of the brain and people's behavior," he said.

In general, people with p11.2 deletions or duplications have "intellectual challenges," such as lower-than-normal IQ, Sherr explained.

But they do not all develop autism, he said. The risk is thought to be 20 to 25 percent.

The current findings, Sherr said, raise the question of whether MRI could help identify young children likely to need therapy for autism.

First, though, important questions would need to be answered, he noted.

The current findings are based on one-time brain scans of people who ranged in age from 1 to 63 years. So it's not clear whether the MRI findings predict future impairments in people who carry the p11.2 abnormalities.

"We'd like to find out whether we can see these brain changes early in development," Sherr said. "And if we do see them, do they point to the risk of developmental challenges later on?"

Thomas Frazier is chief science officer for the nonprofit Autism Speaks.

He said studies like this are important because they help reveal the biology underlying autism.

"And that might point us to new therapies," Frazier said.

In general, experts believe that autism arises from a perfect storm of conditions. A child has some type of genetic vulnerability, then is exposed to one or more environmental factors during early development that, together, lead to autism.

At this point, Frazier said, researchers have found nearly 100 genes believed to contribute to autism risk.

Some genetic flaws -- like the chromosome 16 defects -- have a "major effect," Frazier said. But they, alone, are still not enough to cause autism.

If researchers can figure out why certain people with chromosome 16 defects develop autism, Frazier said, that could give insight into autism more generally.

As it stands, the chromosome 16 abnormalities are detected only if genetic tests are done after an autism diagnosis has been made based on behavior, Frazier said.

Still, researchers are interested in whether MRI can be used to "predict" autism risk in certain young children, Frazier said.

One recent study focused on babies who were at heightened risk because a sibling had autism. It found that early brain differences did show up on MRI, and accurately predicted a future autism diagnosis 80 percent of the time.

But, Frazier said, more work is needed to verify those findings.

The new study was published online Aug. 8 in the journal Radiology.

The U.S. National Institute of Neurological Disorders and Stroke has more on autism.

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Can Scans Predict Some Autism Cases? - Sioux City Journal

JoAnne Viviano The Columbus Dispatch @JoAnneViviano

In what researchers consider a major scientific leap, a team at Ohio State University has discovered a new way of turning skin cells into any type of cells the body might need, a technology that has limitless potential, from regenerating a wounded limb to repairing a brain after stroke to healing a damaged heart.

The process involves placing a square chip about the size of a fingernail on the skin, adding a droplet containing genetic code, and zapping it with an energy source.

While it hasn't been used in humans yet, the process was used in animals to healbrains after stroke and to generate blood vessels in legs wherethe femoral artery, the limbs major blood supply, had been cut, said Chandan Sen, the director of the Center for Regenerative Medicine and Cell-Based Therapies at Ohio State's Wexner Medical Center.

In leg experiments involving mice, researchers placed the chip on the animals' wounded legs, delivered the appropriate genetic material, and saw blood vessels grown to regenerate limbs within seven to 14 days, Sen said. Legs that otherwise would have turned black and required amputation were pink, and the mice were able to run again.

In brain experiments on mice, the chip was again placed on the leg, different genetic material was dropped on, and neurological cells grew in the area. Three weeks later, scientists detected firing neurons, and the new cells were taken from the leg and inserted into the brain.

The leg-healing process was duplicated in pigs after the Walter Reed National Military Medical Center in Bethesda, Maryland, expressed interest. Sen said the technology could be used to heal troops in the field. One caveat: It must be deployed within 72 hours of a limb being damaged.

Twenty-six Ohio State researchers from the fields of engineering, science and medicine worked together to make the technology a reality.

Join the conversation at Facebook.com/columbusdispatchand connect with us on Twitter @DispatchAlerts

The discovery could have countless applications across various medical disciplines, Sen said. He's hopeful other researchers will help stretch the impact of the device.

"There are many smart minds throughout the country and the world that will take this and run," Sen said.

Sen expects that human trials will come soon, after a letter on the research is published Monday in the Nature Nanotechnology journal, a peer-reviewed scientificpublication.The research was led by Sen and L. James Lee, professor of chemical and biomolecular engineering in Ohio States College of Engineering.

Sen said it takes less than a second to deliver the genetic code that spurs the skin cells to switch to something else, then several days for new cells to grow.

The equipment needed can fit in a pocket. And the process can be done anywhere; no lab or hospital is needed.

The black chip, made of silicon, acts as a carrier for the genetic code.

"Its like a syringe thats the chip but then what you load in the syringe is your cargo," Sen explained. "Based on what you intend the cells to be, the cargo will change. So if you want a vasculogenic (blood vessel) cell, the code would be different than if you wanted a neuro cell, and so on and so forth."

The genetic code is synthetically made to mirror code from the patient.

The electric field pulls the genetic material into the skin cells.

Because the research project had a high risk of failure, and because Ohio State wanted to keep it close to the vest, public money was not sought, Sen said. Instead it was funded by university and philanthropic money from Leslie and Abigail Wexner, Ohio States Center for Regenerative Medicine and Cell-Based Therapies, and the universitys Nanoscale Science and Engineering Center.

Approval from the federal Food and Drug Administration is required before Sen, Lee and the research team can try the technique in humans. He expects to get that approval and prove human feasibility within a year. Sen's hopeful that "the floodgates will open" and then thetechnology will be used widely within five years.

The chips are already being manufactured locally due to an assist from the Rev1 Ventures business incubator on the Northwest Side, and the technology has gained interest from Taiwan-based Foxconn Technology Group.

Lee called the concept very simple and said he was surprised by how well it worked.

He had developed similar technology prior to 2011, but it only worked on individual cells and only in processes separate from the body. Since then, he said, many researchers and companies have approached him to come up with a system that worked on tissue in the body.

"More and more people said, 'This technology can be very, very powerful if you can do tissue,'" he said. "It turns out that it works. It was very surprising."

This version, he said, is a very significant advancement and is "much, much more useful for the medical applications."

jviviano@dispatch

@JoAnneViviano

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Ohio State researchers report breakthrough in cell regeneration - The Columbus Dispatch

The chip has not been tested in humans, but it has been used to heal wounds in mice. Wexner Medical Center/The Ohio State University hide caption

The chip has not been tested in humans, but it has been used to heal wounds in mice.

Scientists have created an electronic wafer that reprogrammed damaged skin cells on a mouse's leg to grow new blood vessels and help a wound heal.

One day, creator Chandan Sen hopes, it could be used to be used to treat wounds on humans. But that day is a long way off as are many other regeneration technologies in the works. Like Sen, some scientists have begun trying to directly reprogram one cell type into another for healing, while others are attempting to build organs or tissues from stem cells and organ-shaped scaffolding.

But other scientists have greeted Sen's mouse experiment, published in Nature Nanotechnology on Monday, with extreme skepticism. "My impression is that there's a lot of hyperbole here," says Sean Morrison, a stem cell researcher at the University of Texas Southwestern Medical Center. "The idea you can [reprogram] a limited number of cells in the skin and improve blood flow to an entire limb I think it's a pretty fantastic claim. I find it hard to believe."

When the device is placed on live skin and activated, it sends a small electrical pulse onto the skin cells' membrane, which opens a tiny window on the cell surface. "It's about 2 percent of the cell membrane," says Sen, who is a researcher in regenerative medicine at Ohio State University. Then, using a microscopic chute, the chip shoots new genetic code through that window and into the cell where it can begin reprogramming the cell for a new fate.

Sen says the whole process takes less than 0.1 seconds and can reprogram the cells resting underneath the device, which is about the size of a big toenail. The best part is that it's able to successfully deliver its genetic payload almost 100 percent of the time, he says. "No other gene delivery technique can deliver over 98 percent efficiency. That is our triumph."

Chandan Sen, a researcher at Ohio State University, holds a chip his lab created that has reprogrammed cells in mice. Wexner Medical Center/The Ohio State University hide caption

Chandan Sen, a researcher at Ohio State University, holds a chip his lab created that has reprogrammed cells in mice.

To test the device's healing capabilities, Sen and his colleagues took a few mice with damaged leg arteries and placed the chip on the skin near the damaged artery. That reprogrammed a centimeter or two of skin to turn into blood vessel cells. Sen says the cells that received the reprogramming genes actually started replicating the reprogramming code that the researchers originally inserted in the chip, repackaging it and sending it out to other nearby cells. And that initiated the growth of a new network of blood vessels in the leg that replaced the function of the original, damaged artery, the researchers say. "Not only did we make new cells, but those cells reorganized to make functional blood vessels that plumb with the existing vasculature and carry blood," Sen says. That was enough for the leg to fully recover. Injured mice that didn't get the chip never healed.

When the researchers used the chip on healthy legs, no new blood vessels formed. Sen says because injured mouse legs were was able to incorporate the chip's reprogramming code into the ongoing attempt to heal.

That idea hasn't quite been accepted by other researchers, however. "It's just a hand waving argument," Morrison says. "It could be true, but there's no evidence that reprogramming works differently in an injured tissue versus a non-injured tissue."

What's more, the role of exosomes, the vesicles that supposedly transmit the reprogramming command to other cells, has been contentious in medical science. "There are all manners of claims of these vesicles. It's not clear what these things are, and if it's a real biological process or if it's debris," Morrison says. "In my lab, we would want to do a lot more characterization of these exosomes before we make any claims like this."

Sen says that the theory that introduced reprogramming code from the chip or any other gene delivery method does need more work, but he isn't deterred by the criticism. "This clearly is a new conceptual development, and skepticism is understandable," he says. But he is steadfast in his confidence about the role of reprogrammed exosomes. When the researchers extracted the vesicles and injected them into skin cells in the lab, Sen says those cells converted into blood vessel cells in the petri dish. "I believe this is definitive evidence supporting that [these exosomes] may induce cell conversion."

Even if the device works as well as Sen and his colleagues hope it does, they only tested it on mice. Repairing deeper injuries, like vital organ damage, would also require inserting the chip into the body to reach the wound site. It has a long way to go before it can ever be considered for use on humans. Right now, scientists can only directly reprogram adult cells into a limited selection of other cell types like muscle, neurons and blood vessel cells. It'll be many years before scientists understand how to reprogram one cell type to become part of any of our other, many tissues.

Still, Morrison says the chip is an interesting bit of technology. "It's a cool idea, being able to release [genetic code] through nano channels," he says. "There may be applications where that's advantageous in some way in the future."

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A Chip That Reprograms Cells Helps Healing, At Least In Mice - NPR

An international team of scientists published a new study last week documenting edits theyd made to viable human embryos carrying a genetic mutation, one associated with a life-threatening heart condition. It is the first study of its kind to take place in the United States.

The researchers were able to remove a problematic mutation in the MYBPC3 gene with a higher success rate than in similar studies. After adjusting their method, 72 percent of the embryos were free of the mutation. The scientists believe they may be able to address other monogenetic diseases using the same technique, CRISPR-Cas9.

But the notion of altering human DNA to eradicate inherited diseases is generating concern, too. These genetic changes would permanently affect the DNA passed through a family line, for one. Other critics raise the possibility of altering embryos to create desired characteristics (though it would be much harder for scientists to target genes associated with humor, creativity or physical traits).

Cardiologist and geneticist Dr. Elizabeth McNally is the director of the Center for Genetic Medicine at Northwestern University. She joins Phil Ponce in discussion.

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June 12: Researchers at UIC will focus on understanding tissue regeneration and spearheading future developments in stem cell biology as a means to repair diseased organs and tissues.

The Science and Ethics of Editing Human Embryos

Feb. 28: Earlier this month, an influential group backs editing the genes in human embryos to eliminate disease. Chicago Tonight guests discuss human gene editing and some of the ethical issues it raises.

Baby with 3 Parents: Genetic Technique Offers Hope, Controversy

Sept. 29, 2016: A baby has been born with the DNA of three parents. We hear about the promise the technique offers for avoiding some birth defects, and the ethical concerns it raises.

Excerpt from:
New Gene Editing Study Raises Possibilities, Questions - Chicago Tonight | WTTW

The ACMG Foundation for Genetic and Genomic Medicine announced Aug. 4 that Indian American Madhuri Hegde of Waltham, Mass.-based PerkinElmer Inc. was elected to its board of directors.

"We are delighted that Dr. Hegde has been elected to the ACMG Foundation Board of Directors. She has vast experience in genetic and genomic testing and is a longtime member of the college and supporter of both the college and the foundation," said Dr. Bruce R. Korf, president of the ACMG Foundation, in a statement.

Hegde, who will serve a two-year renewable term, joined PerkinElmer in 2016 as vice president and chief scientific officer of global genetics laboratory services. She is also an adjunct professor of human genetics in Emory Universitys human genetics department.

Previously, Hegde served as the executive director and chief scientific officer at Emory Genetics Laboratory in Atlanta, Ga.; professor of human genetics and pediatrics at Emory University; and assistant professor at Baylor College of Medicines Department of Human Genetics in Houston, Texas.

Additionally, Hegde has served on a number of scientific advisory boards for patient advocacy groups including Parent Project Muscular Dystrophy, Congenital Muscular Dystrophy and the Neuromuscular Disease Foundation.

She earned her doctorate from the University of Auckland in Auckland, New Zealand, and completed her postdoctoral fellowship in molecular genetics at Baylor College of Medicine. She also holds a masters from the University of Mumbai in India.

The foundation, a national nonprofit dedicated to facilitating the integration of genetics and genomics into medical practice, is the supporting educational foundation of the American College of Medical Genetics and Genomics.

Board members are active participants in serving as advocates for the foundation and for advancing its policies and programs.

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Madhuri Hegde Elected to ACMG Foundation for Genetic, Genomic Medicine Board - India West

San Francisco-based genetic diagnostics company Invitae has acquired Good Start Genetics and CombiMatrix, expanding Invitaes portfolio to include prenatal and pediatric testing. Its part of their long-term plan to make genomic testing routine.

Were building a company for the coming genomic era that includes genetic capabilities through all phases of life, said Invitae CEO Sean George in a phone interview.

Invitae offers a wide range of genomic panels to detect anomalies that could contribute to heart disease, cancer, neurologic disorders and other conditions. In Good Start, Invitae picks up expertise in carrier screening and preimplantation genetic testing. CombiMatrix also provides preimplantation testing, as well as panels to analyze miscarriages and pediatric developmental disorders.

Invitae is issuing 1.65 million shares of stock, paying $18.3 million in cash and assuming $6 million in debt for privately-held Good Start. CombiMatrix shareholders will receive around $27 million in common stock.

Spun off from Genomic Health in 2012, Invitae initially focused on adult inherited diseases and has gradually expanded their portfolio. They now enter a crowded field that includes LabCorp (which acquired Sequenom last year), Illumina, Progenity and others. George believes Invitaes ability to do the hard things will carry them through these market battles.

We are building a technology engine to win the race of scale, said George. We are looking to the OB market and the perinatal space to extend our platforms capabilities. But more importantly, in order to move the world away from the current disease-by-disease, test-by-test market, its managing genetic information for an individual over the course of their life.

Good Start appealed to Invitae for their cost-effective pre-implantation screening and diagnosis. CombiMatrix brings specific expertise in chromosomal microarrays. In addition, the companies could expand Invitaes marketing reach.

The two together have a pretty good commercial presence in the IVF and reproductive medicine sector, said George. Combined, especially with our capabilities, I think its fair to say we are immediately the number one player in the IVF, reproductive medicine segment for genetic information.

These acquisitions add around 150 people to the Invitae payroll, a 20 percent workforce increase. George notes they are always looking around for potential acquisitions but will probably take a breather to focus on moving new products to market. Ultimately, Invitae wants to be the company that mainstreams clinical genomics.

With the broad capabilities we now have at all stages of life, we expect to get traction in this new age of genomic medicine, where all this information can be brought to bear, said George. The first company to have broad capabilities across all of it and to continue to lower the cost basis and deliver that information is likely in position to truly bring genetics into medicine for everybody.

Photo: mediaphotos, Getty Images

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Invitae CEO says the diagnostic company has big plans for genomic medicine - MedCity News

BETHESDA, Md., Aug. 4, 2017 /PRNewswire-USNewswire/ --Madhuri Hegde, PhD, FACMG of PerkinElmer, Inc. in Waltham, MA has been elected to the ACMG Foundation for Genetic and Genomic Medicine Board of Directors, the supporting educational foundation of the American College of Medical Genetics and Genomics. The ACMG Foundation is a national nonprofit foundation dedicated to facilitating the integration of genetics and genomics into medical practice. The board members are active participants in serving as advocates for the Foundation and for advancing its policies and programs. Dr. Hegde has been elected to a 2-year renewable term starting immediately.

Dr. Hegde joined PerkinElmer in 2016 as Vice President and Chief Scientific Officer, Global Genetics Laboratory Services. She also is an Adjunct Professor of Human Genetics in the Department of Human Genetics at Emory University. Previously, Dr. Hegde was Executive Director and Chief Scientific Officer at Emory Genetics Laboratory in Atlanta, GA and Professor of Human Genetics and Pediatrics at Emory University and Assistant Professor, Department of Human Genetics and Senior Director at Baylor College of Medicine in Houston, TX.

Dr. Hegde has served on a number of Scientific Advisory Boards for patient advocacy groups including Parent Project Muscular Dystrophy, Congenital Muscular Dystrophy and Neuromuscular Disease Foundation. She was a Board member of the Association for Molecular Pathology and received the Outstanding Faculty Award from MD Anderson Cancer Center. She earned her PhD in Applied Biology from the University of Auckland in Auckland, New Zealand and completed her Postdoctoral Fellowship in Molecular Genetics at Baylor College of Medicine in Houston, TX. She also holds a Master of Science in Microbiology from the University of Mumbai in India. She has authored more than 100 peer-reviewed publications and has given more than 100 keynote and invited presentations at major national and internal conferences.

"We are delighted that Dr. Hegde has been elected to the ACMG Foundation Board of Directors. She has vast experience in genetic and genomic testing and is a longtime member of the College and supporter of both the College and the Foundation," said Bruce R. Korf, MD, PhD, FACMG, president of the ACMG Foundation.

The complete list of the ACMG Foundation board of directors is at http://www.acmgfoundation.org.

About the ACMG Foundation for Genetic and Genomic Medicine

The ACMG Foundation for Genetic and Genomic Medicine, a 501(c)(3) nonprofit organization, is a community of supporters and contributors who understand the importance of medical genetics and genomics in healthcare. Established in 1992, the ACMG Foundation for Genetic and Genomic Medicine supports the American College of Medical Genetics and Genomics' mission to "translate genes into health" by raising funds to help train the next generation of medical geneticists, to sponsor the development of practice guidelines, to promote information about medical genetics, and much more.

To learn more about the important mission and projects of the ACMG Foundation for Genetic and Genomic Medicine and how you too can support the work of the Foundation, please visit http://www.acmgfoundation.org or contact us at rel="nofollow">acmgf@acmgfoundation.org or 301-718-2014.

Contact Kathy Beal, MBA ACMG Media Relations, rel="nofollow">kbeal@acmg.net

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SOURCE American College of Medical Genetics and Genomics

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Madhuri Hegde, PhD is Elected to the Board of the ACMG Foundation for Genetic and Genomic Medicine - Markets Insider

An international team of researchers recently published, in the journal Nature, their study using genome editing to correct a heterozygous mutation in human preimplantation embryos using a technique called CRISPR-Cas9. This bench research, while far from bedside use, raises questions about the medical ethics of what could be considered genetic engineering. The AMA Code of Medical Ethics has guidance for physicians conducting research in this area.

In Opinion 7.3.6, Research in Gene Therapy and Genetic Engineering, the Code explains:

Gene therapy involves the replacement or modification of a genetic variant to restore or enhance cellular function or the improve response to nongenetic therapies. Genetic engineering involves the use of recombinant DNA techniques to introduce new characteristics or traits. In medicine, the goal of gene therapy and genetic engineering is to alleviate human suffering and disease. As with all therapies, this goal should be pursued only within the ethical traditions of the profession, which gives primacy to the welfare of the patient.

In general, genetic manipulation should be reserved for therapeutic purposes. Efforts to enhance desirable characteristics or to improve complex human traits are contrary to the ethical tradition of medicine. Because of the potential for abuse, genetic manipulation of nondisease traits or the eugenic development of offspring may never be justifiable.

Moreover, genetic manipulation can carry risks to both the individuals into whom modified genetic material is introduced and to future generations. Somatic cell gene therapy targets nongerm cells and thus does not carry risk to future generations. Germ-line therapy, in which a genetic modification is introduced into the genome of human gametes or their precursors, is intended to result in the expression of the modified gene in the recipients offspring and subsequent generations. Germ-line therapy thus may be associated with increased risk and the possibility of unpredictable and irreversible results that adversely affect the welfare of subsequent generations.

Thus, in addition to fundamental ethical requirements for the appropriate conduct of research with human participants, research in gene therapy or genetic engineering must put in place additional safeguards to vigorously protect the safety and well-being of participants and future generations.

Physicians should not engage in research involving gene therapy or genetic engineering with human participants unless the following conditions are met:

(a) Participate only in those studies for which they have relevant expertise.

(b) Ensure that voluntary consent has been obtained from each participant or from the participants legally authorized representative if the participant lacks the capacity to consent, in keeping with ethics guidance. This requires that:

(i) prospective participants receive the information they need to make well-considered decisions, including informing them about the nature of the research and potential harms involved;

(ii) physicians make all reasonable efforts to ensure that participants understand the research is not intended to benefit them individually;

(iii) physicians also make clear that the individual may refuse to participate or may withdraw from the protocol at any time.

(c) Assure themselves that the research protocol is scientifically sound and meets ethical guidelines for research with human participants. Informed consent can never be invoked to justify an unethical study design.

(d) Demonstrate the same care and concern for the well-being of research participants that they would for patients to whom they provide clinical care in a therapeutic relationship. Physician researchers should advocate for access to experimental interventions that have proven effectiveness for patients.

(e) Be mindful of conflicts of interest and assure themselves that appropriate safeguards are in place to protect the integrity of the research and the welfare of human participants.

(f) Adhere to rigorous scientific and ethical standards in conducting, supervising, and disseminating results of the research.

AMA Principles of Medical Ethics: I,II,III,V

At the 2016 AMA Interim Meeting, the AMA House of Delegates adopted policy on genome editing and its potential clinical use. In the policy, the AMA encourages continued research into the therapeutic use of genome editing and also urges continued development of consensus international principles, grounded in science and ethics, to determine permissible therapeutic applications of germline genome editing.

Chapter 7 of the Code, Opinions on Research & Innovation, also features guidance on other research-related subjects, including informed consent, conflicts of interest, use of placebo controls, and the use of DNA databanks.

The Code of Medical Ethics is updated periodically to address the changing conditions of medicine. The new edition, adopted in June 2016, is the culmination of an eight-year project to comprehensively review, update and reorganize guidance to ensure that the Code remains timely and easy to use for physicians in teaching and in practice.

See the article here:

Genome editing and the AMA Code of Medical Ethics - American Medical Association (blog)

Unintended Effects

In a statement to Catholic News Agency earlier this week, Rev.Tadeusz Pacholczyk, Ph.D., director of education for the National Catholic Bioethics Center, expressed moral objection to germline genome editing on embryos: Their value as human beings is profoundly denigrated every time they are created, experimented upon, and then killed. Moreover, if such embryos were to grow up, as will doubtless occur in the future, there are likely to be unintended effects from modifying their genes.

The 11 organizations acknowledged numerous ethical issues arising from human germline genome editing, including:

At a minimum, the potential for harm to individuals and families, ramifications on which we can only speculate, provide a strong argument for prudence and further research, the policy statement asserted. By proceeding with caution, we can ensure better understanding of the potential risks and benefits of gene editing from a scientific perspective and, as such, provide families with a more fulsome exercise of their autonomous decision making through the consent process.

The statement added: We encourage ethical and social consideration in tandem with basic science research in the upcoming years.

Last October, You Lu, M.D., and colleagues at Sichuan Universitys West China Hospital in Chengdu launched the first known clinical trial using CRISPR to treat patientsspecifically, knocking out a gene encoding the programmed death protein 1 (PD-1) in patients with non-small-cell lung cancer.

Groups joining ASHG in issuing the policy statement included the Association of Genetic Nurses and Counsellors, the Canadian Association of Genetic Counsellors, the International Genetic Epidemiology Society, and the National Society of Genetic Counselors.

Additional groups authoring the policy statement were the American Society for Reproductive Medicine, the Asia Pacific Society of Human Genetics, the British Society for Genetic Medicine, the Human Genetics Society of Australasia, the Professional Society of Genetic Counselors in Asia, and the Southern African Society for Human Genetics.

Go here to see the original:
11 Organizations Urge Caution, Not Ban, on CRISPR Germline Genome Editing - Genetic Engineering & Biotechnology News (press release)

Dr. Hegde joined PerkinElmer in 2016 as Vice President and Chief Scientific Officer, Global Genetics Laboratory Services. She also is an Adjunct Professor of Human Genetics in the Department of Human Genetics at Emory University. Previously, Dr. Hegde was Executive Director and Chief Scientific Officer at Emory Genetics Laboratory in Atlanta, GA and Professor of Human Genetics and Pediatrics at Emory University and Assistant Professor, Department of Human Genetics and Senior Director at Baylor College of Medicine in Houston, TX.

Dr. Hegde has served on a number of Scientific Advisory Boards for patient advocacy groups including Parent Project Muscular Dystrophy, Congenital Muscular Dystrophy and Neuromuscular Disease Foundation. She was a Board member of the Association for Molecular Pathology and received the Outstanding Faculty Award from MD Anderson Cancer Center. She earned her PhD in Applied Biology from the University of Auckland in Auckland, New Zealand and completed her Postdoctoral Fellowship in Molecular Genetics at Baylor College of Medicine in Houston, TX. She also holds a Master of Science in Microbiology from the University of Mumbai in India. She has authored more than 100 peer-reviewed publications and has given more than 100 keynote and invited presentations at major national and internal conferences.

"We are delighted that Dr. Hegde has been elected to the ACMG Foundation Board of Directors. She has vast experience in genetic and genomic testing and is a longtime member of the College and supporter of both the College and the Foundation," said Bruce R. Korf, MD, PhD, FACMG, president of the ACMG Foundation.

The complete list of the ACMG Foundation board of directors is at http://www.acmgfoundation.org.

About the ACMG Foundation for Genetic and Genomic Medicine

The ACMG Foundation for Genetic and Genomic Medicine, a 501(c)(3) nonprofit organization, is a community of supporters and contributors who understand the importance of medical genetics and genomics in healthcare. Established in 1992, the ACMG Foundation for Genetic and Genomic Medicine supports the American College of Medical Genetics and Genomics' mission to "translate genes into health" by raising funds to help train the next generation of medical geneticists, to sponsor the development of practice guidelines, to promote information about medical genetics, and much more.

To learn more about the important mission and projects of the ACMG Foundation for Genetic and Genomic Medicine and how you too can support the work of the Foundation, please visit http://www.acmgfoundation.org or contact us at acmgf@acmgfoundation.org or 301-718-2014.

Contact Kathy Beal, MBA ACMG Media Relations, kbeal@acmg.net

View original content with multimedia:http://www.prnewswire.com/news-releases/madhuri-hegde-phd-is-elected-to-the-board-of-the-acmg-foundation-for-genetic-and-genomic-medicine-300499860.html

SOURCE American College of Medical Genetics and Genomics

http://www.acmg.net

See original here:

Madhuri Hegde, PhD is Elected to the Board of the ACMG Foundation for Genetic and Genomic Medicine - PR Newswire (press release)

Unintended Effects

In a statement to Catholic News Agency earlier this week, Rev.Tadeusz Pacholczyk, Ph.D., director of education for the National Catholic Bioethics Center, expressed moral objection to germline genome editing on embryos: Their value as human beings is profoundly denigrated every time they are created, experimented upon, and then killed. Moreover, if such embryos were to grow up, as will doubtless occur in the future, there are likely to be unintended effects from modifying their genes.

The 11 organizations acknowledged numerous ethical issues arising from human germline genome editing, including:

At a minimum, the potential for harm to individuals and families, ramifications on which we can only speculate, provide a strong argument for prudence and further research, the policy statement asserted. By proceeding with caution, we can ensure better understanding of the potential risks and benefits of gene editing from a scientific perspective and, as such, provide families with a more fulsome exercise of their autonomous decision making through the consent process.

The statement added: We encourage ethical and social consideration in tandem with basic science research in the upcoming years.

Last October, You Lu, M.D., and colleagues at Sichuan Universitys West China Hospital in Chengdu launched the first known clinical trial using CRISPR to treat patientsspecifically, knocking out a gene encoding the programmed death protein 1 (PD-1) in patients with non-small-cell lung cancer.

Groups joining ASHG in issuing the policy statement included the Association of Genetic Nurses and Counsellors, the Canadian Association of Genetic Counsellors, the International Genetic Epidemiology Society, and the National Society of Genetic Counselors.

Additional groups authoring the policy statement were the American Society for Reproductive Medicine, the Asia Pacific Society of Human Genetics, the British Society for Genetic Medicine, the Human Genetics Society of Australasia, the Professional Society of Genetic Counselors in Asia, and the Southern African Society for Human Genetics.

Here is the original post:

11 Organizations Urge Caution, Not Ban, on CRISPR Germline Genome Editing - Genetic Engineering & Biotechnology News (press release)

August 4, 2017 by Will Doss Credit: CC0 Public Domain

Northwestern Medicine collaborated with international colleagues in a study that identified two dozen new genes linked to lupus after analyzing genetic samples from over 27,000 individuals across the globe.

The study, published in Nature Communications, was co-authored by Rosalind Ramsey-Goldman, MD, DrPH, the Solovy/Arthritis Research Society Research Professor of Medicine in the Division of Rheumatology, part of a group of authors from more than 70 universities.

"These new observations will help direct future research to better diagnose and treat the disease while also providing insights into why lupus disproportionately affects certain ethnicities at higher rates and more severely," said Ramsey-Goldman, also a member of the Robert H. Lurie Comprehensive Center Cancer and Northwestern University Clinical and Translational Sciences Institute.

Systemic lupus erythematosus (SLE) is an autoimmune disease that predominantly affects women during their childbearing years, and is more common in African-American, Native American and Hispanic patients. In SLE, the immune system produces antibodies that cause inflammation and damage the body's own organs and tissues, but it can be difficult to diagnose because its symptoms are similar to those of other immune system diseases.

The study revealed 24 genomic regions that contribute to an accelerating pattern of risk for SLE, leading the investigators to propose what they call the "cumulative hit hypothesis."

According to the authors, an immune system can normally absorb the effect of a modest amount of these risky genes, but as the number of genes climbs the immune system becomes overwhelmedresulting in disorders such as SLE.

The ancestral distribution of these genes may explain the ethnic disparities in SLE, according to the study. One cluster of risky genes has a greater frequency in people with African-American ancestry, a population with a higher incidence of SLE. On the other hand, a different risky cluster was less common in those with a mix of African-American and Central European ancestry, reflecting how a complex demographic history can affect the risk of developing SLE.

"There is a genetic predisposition to developing lupus and this study will help scientists decipher the heterogeneous manifestations of the disease, which is hard to diagnose and treat," Ramsey-Goldman said. "The hope is that these discoveries lead to better diagnostic tools, such as biomarkers, and assist in the development of targeted therapies."

While large-scale population screening may not be financially practical, it may be more realistic to accelerate the diagnosis of suspected lupus by testing narrowly for genetic markers such as those uncovered in the current study, according to the authors.

"Understanding the implications and not just cataloguing the overlap of genetic variation that predicts multiple autoimmune diseases is a key next set of questions these investigators are pursuing," said lead author Carl Langefeld, PhD, professor of Biostatistics at Wake Forest Medicine.

Explore further: Large multi-ethnic study identifies many new genetic markers for lupus

More information: Carl D. Langefeld et al. Transancestral mapping and genetic load in systemic lupus erythematosus, Nature Communications (2017). DOI: 10.1038/ncomms16021

Leading rheumatologist and Feinstein Institute for Medical Research Professor Betty Diamond, MD, may have identified a protein as a cause for the adverse reaction of the immune system in patients suffering from lupus. A better ...

A new study by researchers from Brigham and Women's Hospital in Boston, Massachusetts reveals that Asian and Hispanic patients with systemic lupus erythematosus (SLE) have lower mortality rates compared to Black, White, or ...

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Genetic risk for lupus tied to ancestry - Medical Xpress