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Scientists, parents join forces to identify new genetic disease in children

Posted: March 21, 2014 at 5:48 am

PUBLIC RELEASE DATE:

20-Mar-2014

Contact: Erin Digitale [email protected] 650-724-9175 Stanford University Medical Center

STANFORD, Calif. Scientists and parents have worked together to identify a new genetic disease that causes neurologic, muscle, eye and liver problems in children. The discovery was unusually fast thanks to a combination of modern gene-sequencing techniques, social media and old-fashioned detective work.

One important clue was that affected children cry without making tears.

The new disease, called NGLY1 deficiency, is described in a paper that will be published online March 20 in Genetics in Medicine, the journal of the American College of Medical Genetics and Genomics. The paper describes eight children with mutations in the gene coding for N-glycanase 1, an enzyme that recycles defective products from a cellular assembly line. Children who lack this enzyme have varying degrees of movement disorders, including a characteristic combination of muscle contractions that causes abnormal tremulous movements. They also have developmental delays and liver problems. The gene defect is so rare that until recently, finding eight affected individuals would have taken several years; instead, the children were found in a matter of months.

“This represents a complete change in the way we’re going about clinical medicine,” said Gregory Enns, MB, ChB, associate professor of genetics in pediatrics at the Stanford University School of Medicine and co-lead author of the new paper. Gene-sequencing tools have sped the translation of findings between clinical and lab settings; in addition, scientists around the globe and lay people are contributing to the discovery process.

“This is happening so quickly because of the integration of the families with the researchers, and because so many people are coming at this from so many angles,” said Enns, who is also a geneticist at Lucile Packard Children’s Hospital Stanford and Stanford Children’s Health. Other co-authors of the paper come from 12 research institutions across the United States, Canada, Germany and the United Kingdom.

“The relief of finally getting a diagnosis is just life-changing,” said Kristen Wilsey, mother of Grace Wilsey, 4, who was the second American patient, and among the first few in the world, to be identified with NGLY1 deficiency. Grace’s diagnosis was a pivotal moment not just for her San Francisco Bay Area family but also for defining the new disease, since the comparison of multiple patients allowed researchers to confirm that the disease existed.

The enzyme that is missing in NGLY1-deficiency patients is normally found in cells throughout the body. N-glycanase 1 helps break down incorrectly shaped proteins so their components can be reused. The new research confirmed that children with a defective NGLY1 gene do not make the N-glycanase enzyme. The researchers also observed that the children’s liver biopsies contained an amorphous substance, which they suspected was an accumulation of protein that did not get recycled.

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Kids who don't cry: New genetic disorder discovered

Posted: at 5:48 am

Grace Wilsey was born with NGLY1 deficiency, which is caused by two mutations in the NGLY1 gene.

STORY HIGHLIGHTS

(CNN) — What do you do when your baby lies limp in your arms, staring blankly into the distance while never crying?

What do you do when tests show signs of liver damage and your baby’s seizures won’t stop, but doctors can’t tell you what’s wrong or how to fix it?

Thanks to the Human Genome Project, which was completed in 2003, identifying new genetic mutations has gotten easier and cheaper. But geneticists often struggle to find patients who share these rare DNA quirks. Studying multiple patients with the same gene mutations and similar symptoms is crucial to identifying a new genetic disorder.

That’s why a paper published Thursday in the journal Genetics in Medicine is so remarkable.

The paper identifies NGLY1 deficiency as an inherited genetic disorder, caused by mutations in the NGLY1 gene. The researchers have confirmed eight patients with these mutations who share several symptoms, including developmental delays, abnormal tear production and liver disease.

And they credit an “Internet blog” with bringing the patients and scientists together.

Grace’s genome

Grace Wilsey’s parents knew something was wrong right away. Their newborn daughter was lethargic. Her eyes seemed hollow and unfocused. She refused to eat. Doctors at the hospital ran multiple tests, but couldn’t come up with a diagnosis.

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Stem cells created from a drop of blood: DIY finger-prick technique opens door for extensive stem cell banking

Posted: at 5:45 am

Scientists at A*STAR’s Institute of Molecular and Cell Biology (IMCB) have developed a method to generate human induced pluripotent stem cells (hiPSCs) from a single drop of finger-pricked blood. The method also enables donors to collect their own blood samples, which they can then send to a laboratory for further processing. The easy access to blood samples using the new technique could potentially boost the recruitment of greater numbers and diversities of donors, and could lead to the establishment of large-scale hiPSC banks.

By genetic reprogramming, matured human cells, usually blood cells, can be transformed into hiPSCs. As hiPSCs exhibit properties remarkably similar to human embryonic stem cells, they are invaluable resources for basic research, drug discovery and cell therapy. In countries like Japan, USA and UK, a number of hiPSC bank initiatives have sprung up to make hiPSCs available for stem cell research and medical studies.

Current sample collection for reprogramming into hiPSCs include invasive measures such as collecting cells from the bone marrow or skin, which may put off many potential donors. Although hiPSCs may also be generated from blood cells, large quantities of blood are usually required. In the paper published online on the Stem Cell Translational Medicine journal, scientists at IMCB showed for the first time that single-drop volumes of blood are sufficient for reprogramming into hiPSCs. The finger-prick technique is the world’s first to use only a drop of finger-pricked blood to yield hiPSCs with high efficiency. A patent has been filed for the innovation.

The accessibility of the new technique is further enhanced with a DIY sample collection approach. Donors may collect their own finger-pricked blood, which they can then store and send it to a laboratory for reprogramming. The blood sample remains stable for 48 hours and can be expanded for 12 days in culture, which therefore extends the finger-prick technique to a wide range of geographical regions for recruitment of donors with varied ethnicities, genotypes and diseases.

By integrating it with the hiPSC bank initiatives, the finger-prick technique paves the way for establishing diverse and fully characterised hiPSC banking for stem cell research. The potential access to a wide range of hiPSCs could also replace the use of embryonic stem cells, which are less accessible. It could also facilitate the set-up of a small hiPSC bank in Singapore to study targeted local diseases.

Dr Loh Yuin Han Jonathan, Principal Investigator at IMCB and lead scientist for the finger-prick hiPSC technique, said, “It all began when we wondered if we could reduce the volume of blood used for reprogramming. We then tested if donors could collect their own blood sample in a normal room environment and store it. Our finger-prick technique, in fact, utilised less than a drop of finger-pricked blood. The remaining blood could even be used for DNA sequencing and other blood tests.”

Dr Stuart Alexander Cook, Senior Consultant at the National Heart Centre Singapore and co-author of the paper, said “We were able to differentiate the hiPSCs reprogrammed from Jonathan’s finger-prick technique, into functional heart cells. This is a well-designed, applicable technique that can unlock unrealized potential of biobanks around the world for hiPSC studies at a scale that was previously not possible.”

Prof Hong Wanjin, Executive Director at IMCB, said “Research on hiPSCs is now highly sought-after, given its potential to be used as a model for studying human diseases and for regenerative medicine. Translational research and technology innovations are constantly encouraged at IMCB and this new technique is very timely. We hope to eventually help the scientific community gain greater accessibility to hiPSCs for stem cell research through this innovation.”

Story Source:

The above story is based on materials provided by A*STAR. Note: Materials may be edited for content and length.

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NANOMEDICINE HANGOUT – Video

Posted: at 5:43 am



NANOMEDICINE HANGOUT

By: John Bennett

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NANOMEDICINE HANGOUT – Video

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If your child's having a stem cell transplant – tips from parents – Video

Posted: March 20, 2014 at 3:59 pm



If your child's having a stem cell transplant – tips from parents
Is your child having a stem cell transplant? We've put together a video with tips from parents who've been through the same thing. For more help and advice, …

By: Anthony Nolan

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If your child’s having a stem cell transplant – tips from parents – Video

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A Better Brazilian Butt Lift: Plastic Surgeons Develop Groundbreaking Technique

Posted: at 3:58 pm

Houston, TX (PRWEB) March 19, 2014

Surgeons at The Aesthetic Center for Plastic Surgery (ACPS) have developed a groundbreaking technique to improve the results of Brazilian Butt Lift surgeryone of the fastest growing cosmetic surgical procedures in the United States. Recent statistics released by the American Society of Plastic Surgeons reveal demand for fat-grafting procedures to enhance the buttocks is on the rise, increasing by 13 percent in 2012 compared to the year prior.

Fat grafting is by far the most popular and safest method plastic surgeons use to add volume to the buttocks. But the traditional way of performing the procedure, by repeatedly filling a syringe with fat that has been removed from other areas of the body via liposuction then injecting it into the buttocks, can be a tedious and time-consuming process.

ACPS surgeons set out to find a better way of achieving the same outcome and ultimately discovered a more efficient method of fat grafting that allowed them to obtain far better results than was previously thought possible.

Essentially, they take the mechanism used to suction fat out of the body during liposuction and reverse it so that the fat is gently, yet quickly, moved through a small tube with a series of spinning propellers, rather than being forced through a syringe.

With this power-assisted form of fat grafting, ACPS surgeons can safely inject two to three times more fat to the buttocks in minutes compared to the hours it formerly required. This greater fat volume allows the doctors to more fully sculpt the contours that are highly sought, thanks in part to the famously shapely backsides of celebrities Jennifer Lopez and Kim Kardashian who helped launch the trend.

ACPS plastic surgeon Dr. German Newall said, To achieve a lasting, good, noticeable change, you have to put in about three and a half cups of fat per buttock. This much fat allows us to comprehensively contour the buttocks, addressing all the aspects that contribute to an attractive shape, including the buttocks projection, fullness, and how it joins the outer thigh so that a smooth, round contour can be sculpted.”

The power-assisted fat grafting method allows us to do this. It has a learning curve, but once its mastered, its the best.

About the Company: The award-winning plastic surgeons of The Aesthetic Center for Plastic Surgery in Houston specialize in combining artistry and advanced surgical expertise to achieve impressive, natural-looking results. They offer a broad range of surgical and nonsurgical procedures such as liposuction, tummy tucks and mommy makeovers, as well as facial rejuvenation procedures such as facelifts, browlifts, eyelid surgery and rhinoplasties. They also do breast procedures, including breast augmentations, breast lifts and breast reductions.

Founded in 1996 by Dr. Christopher K. Patronella, Dr. Henry A. Mentz, III and Dr. German Newall, The Aesthetic Center for Plastic Surgery is one of the largest private plastic surgery centers in Texas, distinguished by the highest quality of personal service, commitment to safety, patient confidentiality and superior results. For more information, visit http://www.mybeautifulbody.com/.

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The Repair Stem Cells Institute Invites Participation in a Unique Study of a Stem Cell Treatment for Type 2 Diabetes

Posted: at 3:53 pm

Dallas, TX (PRWEB) March 20, 2014

The Repair Stem Cells Institute (RSCI) — http://www.repairstemcells.org — is pleased to announce that it will assist interested patients to take part in a patient-sponsored research study based in the United States for the treatment of Type2 Diabetes with adult stem cells. The study, which meets current FDA guidelines, will be conducted during April 2014.

The study is being conducted by the U.S. based company Bioheart which has assembled teams of doctors and specialists specially trained in stem cell treatments. Based on previous treatment of Type 2 diabetes with autologous (the patients own) stem cells, it is estimated that two-thirds of participants will experience a significant quality of life improvement and symptoms reduction.

Type 2 diabetes makes up about 90% of cases of diabetes. Rates of type 2 diabetes have increased markedly since 1960. Today there are approximately 50 million people suffering from the disease compared to 15 million in 1985.

In a recent interview, RSCI founder and Chairman Don Margolis stated, With stem cell treatment rapidly coming to the forefront of 21st Century medicine, we are pleased that Type 2 Diabetes is among the many chronic conditions that are treatable with adult stem cells rather than potentially risky surgery, dangerous transplants, and toxic drugs.

Eligibility

Patients suffering from Type 2 diabetes who are cancer-free can apply to participate.

What will happen?

The 4-part procedure will be done in a participating doctors office as a point-of-care out-patient.

1.Adipose Harvest: During a 3 to 5 hour visit to the doctors office, a mini-liposuction on your stomach will extract a small amount of tummy fat containing tens of millions of adipose stem cells. 2.Laboratory Processing: The extracted stem cells will be isolated, analyzed, cleaned and concentrated. 3.Stem Cell Implantation: Up to 60 million stem cells will be transplanted intravenously, usually into your arm. Because these are the patients own cells, the risk of rejection is non-existent. 4.Postoperative Care: Normally, patients can leave shortly after implantation. RSCI will check on your progress monthly by telephone for the first year after stem cells.

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A*STAR scientists create stem cells from a drop of blood

Posted: at 3:53 pm

PUBLIC RELEASE DATE:

20-Mar-2014

Contact: Tan Yun Yun [email protected] 656-826-6273 Biomedical Sciences Institutes (BMSI)

1. Scientists at A*STAR’s Institute of Molecular and Cell Biology (IMCB) have developed a method to generate human induced pluripotent stem cells (hiPSCs) from a single drop of finger-pricked blood. The method also enables donors to collect their own blood samples, which they can then send to a laboratory for further processing. The easy access to blood samples using the new technique could potentially boost the recruitment of greater numbers and diversities of donors, and could lead to the establishment of large-scale hiPSC banks.

2. By genetic reprogramming, matured human cells, usually blood cells, can be transformed into hiPSCs. As hiPSCs exhibit properties remarkably similar to human embryonic stem cells, they are invaluable resources for basic research, drug discovery and cell therapy. In countries like Japan, USA and UK , a number of hiPSC bank initiatives have sprung up to make hiPSCs available for stem cell research and medical studies.

3. Current sample collection for reprogramming into hiPSCs include invasive measures such as collecting cells from the bone marrow or skin, which may put off many potential donors. Although hiPSCs may also be generated from blood cells, large quantities of blood are usually required. In the paper published online on the Stem Cell Translational Medicine journal, scientists at IMCB showed for the first time that single-drop volumes of blood are sufficient for reprogramming into hiPSCs. The finger-prick technique is the world’s first to use only a drop of finger-pricked blood to yield hiPSCs with high efficiency. A patent has been filed for the innovation.

4. The accessibility of the new technique is further enhanced with a DIY sample collection approach. Donors may collect their own finger-pricked blood, which they can then store and send it to a laboratory for reprogramming. The blood sample remains stable for 48 hours and can be expanded for 12 days in culture, which therefore extends the finger-prick technique to a wide range of geographical regions for recruitment of donors with varied ethnicities, genotypes and diseases.

5. By integrating it with the hiPSC bank initiatives, the finger-prick technique paves the way for establishing diverse and fully characterised hiPSC banking for stem cell research. The potential access to a wide range of hiPSCs could also replace the use of embryonic stem cells, which are less accessible. It could also facilitate the set-up of a small hiPSC bank in Singapore to study targeted local diseases.

6. Dr Loh Yuin Han Jonathan, Principal Investigator at IMCB and lead scientist for the finger-prick hiPSC technique, said, “It all began when we wondered if we could reduce the volume of blood used for reprogramming. We then tested if donors could collect their own blood sample in a normal room environment and store it. Our finger-prick technique, in fact, utilised less than a drop of finger-pricked blood. The remaining blood could even be used for DNA sequencing and other blood tests.”

7. Dr Stuart Alexander Cook, Senior Consultant at the National Heart Centre Singapore and co-author of the paper, said “We were able to differentiate the hiPSCs reprogrammed from Jonathan’s finger-prick technique, into functional heart cells. This is a well-designed, applicable technique that can unlock unrealized potential of biobanks around the world for hiPSC studies at a scale that was previously not possible.”

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USF study finds stem cell combination therapy improves traumatic brain injury outcomes

Posted: at 3:53 pm

PUBLIC RELEASE DATE:

20-Mar-2014

Contact: Anne DeLotto Baier [email protected] 813-974-3303 University of South Florida (USF Innovation)

Tampa, FL (Mar. 20, 2014) Traumatic brain injuries (TBI), sustained by close to 2 million Americans annually, including military personnel, are debilitating and devastating for patients and their families. Regardless of severity, those with TBI can suffer a range of motor, behavioral, intellectual and cognitive disabilities over the short or long term. Sadly, clinical treatments for TBI are few and largely ineffective.

In an effort to find an effective therapy, neuroscientists at the Center of Excellence for Aging and Brain Repair, Department of Neurosurgery in the USF Health Morsani College of Medicine, University of South Florida, have conducted several preclinical studies aimed at finding combination therapies to improve TBI outcomes.

In their study of several different therapiesalone and in combinationapplied to laboratory rats modeled with TBI, USF researchers found that a combination of human umbilical cord blood cells (hUBCs) and granulocyte colony stimulating factor (G-CSF), a growth factor, was more therapeutic than either administered alone, or each with saline, or saline alone.

The study appeared in a recent issue of PLoS ONE.

“Chronic TBI is typically associated with major secondary molecular injuries, including chronic neuroinflammation, which not only contribute to the death of neuronal cells in the central nervous system, but also impede any natural repair mechanism,” said study lead author Cesar V. Borlongan, PhD, professor of neurosurgery and director of USF’s Center of Excellence for Aging and Brain Repair. “In our study, we used hUBCs and G-CSF alone and in combination. In previous studies, hUBCs have been shown to suppress inflammation, and G-CSF is currently being investigated as a potential therapeutic agent for patients with stroke or Alzheimer’s disease.”

Their stand-alone effects have a therapeutic potential for TBI, based on results from previous studies. For example, G-CSF has shown an ability to mobilize stem cells from bone marrow and then infiltrate injured tissues, promoting self-repair of neural cells, while hUBCs have been shown to suppress inflammation and promote cell growth.

The involvement of the immune system in the central nervous system to either stimulate repair or enhance molecular damage has been recognized as key to the progression of many neurological disorders, including TBI, as well as in neurodegenerative diseases such as Parkinson’s disease, multiple sclerosis and some autoimmune diseases, the researchers report. Increased expression of MHCII positive cellscell members that secrete a family of molecules mediating interactions between the immune system’s white blood cellshas been directly linked to neurodegeneration and cognitive decline in TBI.

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We Have No More Time Says Mother Of Boy With MD

Posted: at 11:54 am

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DENVER (CBS4) With passion and tears Jennifer Dunne pleads for answers and action from the Food and Drug Administration, which has held up the use of an experimental drug that has shown promise for children like her son, a 9-year-old with Duchenne Muscular Dystrophy, a 100 percent fatal disease.

They need to move we have no more time, no more time, Dunne told CBS4.

Her son, Ryan, a third-grader, was diagnosed with DMD years ago. It is a genetic, muscle-wasting disease that hits young boys and is always fatal, usually by the time the patient reaches their mid-20s.

But two experimental medications have shown great promise in treating the disease. In 2013, Ryan was placed on one of the medications as part of a six-month trial study.

When there was no hope, all of a sudden things were getting better, said Ryans father, Chris.

He walked further, had better stamina and energy and didnt fall into bed saying, Im tired, said his mother. And when he was pulled off of it he went downhill immediately. The drug is effective.

A second medication that has also shown promise in trials and that would likely work for Ryan is called eteplirsen. It has also shown extremely strong results in studies. For more than two years the drug was given to 12 boys with DMD. All reported improvement and none reported any side effects.

Patients and their families have requested the Food and Drug Administration give eteplirsen whats known as accelerated approval so patients like Ryan could have access to it right away, even as studies continue.

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