Our Person of Week for February 2, 2018

February 2, 2018

Everybody has something good they're really good act slipping and most famous for my family as I make this. Creamy white chicken chili. And then if I had exercise and then on the freckles or something to go along with Erin Smith. Teenager senior Shawnee mission west. 

And apparently a good cook Erin or any man whose pancakes are better. I might. Jilin Huber Iranian agents mom pancaked SEC enough though probably eight because Aaron had a really hard time getting out of bed on the week. And then we did say she was a teenager she's a girl end. She's okay gleaned. She. Likes to play or they can and earrings and all ashamed that. Girls like to do is bring the lion is one of the parents teachers. And it's a good thing that she in aaron's mom more able to give us some perspective because when we talk to aaron's. 

Sure we saw a teenager but we heard one of the most impressive young people we have ever met I create these privileges and are being accurate diagnostic tool for Parkinson's disease.

 Yeah seeing differences I discovered in spontaneous impose facial expressions and what to spontaneous and rehearsed facial expressions mean. Essentially any type of facial movements that we typically associate professor and emotions are expression such as a smile so it's an individual facial muscle movements that make up these expressions. Brenda when she came to you and said okay. I want to make an app for spontaneous in whose. Face of fresh facial expressions what do you say I think I gave her facial expression. Yeah. The inspiration for the whole thing came from perhaps the world's most famous parkinson's patient myself for your high school so about two years ago. I was watching video by the Michael. OK.

 I wondered if there could be medical significance in this and that's a toxic caretaker is in clinicians there reported similar observations and they're not tons years and for diagnosis. They'd always just been. Just got a subjective observation since she went looking for a way to make those subjective observations. Objective provable. Perhaps allowing parkinson's to be diagnosed earlier the weight Aron explains it the app works to waste it measures your spontaneous reactions to a series of emotional videos the second toughest test is. On the post facial expression test. For example there's shown a smiley face on a frowning face and then an age. Neutral taste. 

I was their sound these analogies they're supposed to deliberately replicate what ever facial expression edition I'm doesn't sound too complicated right perhaps even too simple to be accurate. Well being NS. She was right sum of their parts of the brain experienced earliest changes in parkinson's patients for the same parts involved acacia exception information. So the apple is designed to detect early changes in facial expressions then a doctor can follow up with further testing still skeptical. The app is right a lot of the time so currently has an active scene 88%. And I definitely think that I can improve from here but Erin in her research for about a lot more than a Smartphone and her work is touching a lot of people in attracting some major players more on mass. 

In a moment, Aaron Smith is a Shawnee mission West High School senior. And we've just told you about the app she's developed and it's remarkable ability to detect early signs of Parkinson's disease but air and her researcher about a lot more than a Smart phone app they're touching a lot of people and attracting some major players. She's done small studies on our own. In the Michael. I'll be launching my next large study with the national Parkinson's foundation. I'm which will be expanding to Parkinson's and essential tremor patients. To determine if there is different so I markers between two she's eighteen years old she designs the studies she does her own coding to make sure the app works the way she wants it to her tee. Your Brenda box is airing his hands on when she first went up so what does it. Patients and family members she would come out and saying. Family members are noticed seeing a change but enough medical people. 

They weren't noticing those same changes. And she started working with the parkinson's patients and their caregivers. At ticket and a whole other couples when you actually. Experience and it's. In it makes it drills. There's just thousands of volunteers in the Kansas City area or across the United States are just so willing to do vote. Their time in their efforts to try to further. Research after it's a bit and also just hearing their individual stories. And the resilience of each of the patients the spouses or kids ever CD here. Thank you. Thank god for you yeah and is actually one of my favorite part has been I've gotten a lot of like handwritten letters from. On its patients are from patients family and so I always keep those. 

How long you've been teaching. I've been teaching for four years how many times over those four years does Aaron Smith walked through door. Once. I mean in all your years one of a kind. Plus she did happen on her sister yeah. What's your sister dip alone what she cured. So I actually my older sister when she was in high school did a lot parkinson's district which is where I first became familiar and fascinated with the idea. Erin is the third of five kids two older sisters two younger Brothers. And a mom who is raise the mall enjoy and says Aaron has been touched by so many lives during the last two years working on this project but she's touched many people to. He got a handwritten letter from one of the people that I had read your application. Can I make comments I think we'll grandfather might have been a grandmother that it has parkinson's and that was one thing that they commented on and he'll lie about your recent search and because of my personal experience of my ground pot. 

That's just about to face. And that application she mentioned I got an early to stand traders are really excited about and then and we need to hear back from a other colleges and march and then go ahead Sam and which colleges going on. I'm waiting to hear back from MIT in. And she says that in all humility she didn't even mention that she's a finalist to become a Jefferson scholar and you VA. Look it up it's beyond impressive. When I look at I don't. Salvage his air and that's something that's maybe things went fine and is specific Aaron it scares a lot of. So I'd say that my head over arching goal would be to ease human suffering and promotes. Connections than meaningful relationship. I actually like better than normal behavior. I wanna get into your mental event through management. And all that I chuckled and everything in every album just it's just be. All the accolades it and I get that feel the hard work and struggles and what accurately conspire. Fair enough but aaron's not just a teenager and not just a scientist sister for success story today Karen Smith. You're a person of the week.

http://www.kmbz.com/media/audio-channel/our-person-week-february-2-2018

Melanoma (potentially fatal skin cancer) and Parkinson's Disease, a neurological movement disorder, may be genetically linked.

By Maria Houser Conzemius, Patch Contributor | Feb 2, 2018

According to Science Daily, scientific research at the Mayo Clinic has linked melanoma with Parkinson's disease, a movement disorder. Patients with Parkinson's were roughly four times as likely to have had a history of melanoma than those without Parkinson's, and people with melanoma had a fourfold higher risk of developing Parkinson's. The lead author in the Mayo Clinic article is Lauren A. Dalvin, M.D., who studies ocular cancer. Apparently, you can get melanoma of the eyes. Lovely.

Nobody has proven a genetic link, but to me it seems likely. However, if you have melanoma, a particularly deadly form of skin cancer, in your family you should be checked regularly by a dermatologist. I'm a Fitzpatrick 1, according to the last physician I saw, which means I have particularly light-colored skin. I'm like my father: white skin with black hair. (Only now it's going gray.) I tan like a baking powder biscuit: a few freckles and a light tan.

My Uncle Dick (Richard Hugh Houser) flew a bomber in WWII. He died in his twenties of a melanoma on his shoulder. My Dad, 93, developed Parkinson's in his late eighties. So Uncle Dick's melanoma and Dad's Parkinson's are separated by approximately 60 years.

If the study author, Lauren Dalvin, or any other medical researcher at the Mayo Clinic or the University of Iowa wants a study subject to study possible genetic links between melanoma and Parkinson's disease, I'm going to volunteer. I've had my DNA done and I paid to have my father's DNA done, so I know what my paternal surnames are and who my paternal DNA relatives are. Not only that, but the Pembrokes on my father's side were in Providence, Rhode Island in 1636 when Roger Williams, on my mother's side, was in Providence, Rhode Island. In fact, there are Williamses on both sides of the family. That might make the genetic links more confusing, but maybe not. There's lots of British on both sides.

Needless to say, I have Jody McKee at Town Square Dermatology in Coralville check my skin a lot. I've already had a small basal cell carcinoma taken off of my left shoulder. Nothing else. I don't know whether to alert my relatives or not. It's not like it's good news or anything. But I did alert my children. I've already alerted my paternal cousin Candy about the blindness on the Houser side, multiple types. Does Candy really want or need more good news about the Housers, the Althousers, and the Funkhousers? We are Carpenters as well, if you're a Carpenter. And McCains, McQueens, a lot of Irish names.

I'm glad the University of Iowa changed their vision center name away from Steve Wynn's, given his reputation for sexual harassment. But I'm also glad they didn't give back the money he gave the vision center for research. That would be a tragedy, considering that the neuro-opthalmology department at the University of Iowa Hospitals and Clinics was the only department in the country that my father went to in the country that was able to diagnose his blindness, which was caused by Transient Ischemic Optic Neuropathy.

For a certified genius, as my father used to love to tell me, he's not just Mensa, he's smarter than that. He's in the Triple 9 Club, but he wasn't smart enough to take his blood pressure medicine, which is why he's blind. Sudden onset of partial blindness is the key symptom. The day I took him to his appointment, he hadn't taken any BP medicine at all, so we spent about 11 hours in ER after the appointment till his BP came down. 

He was sailing alone in the Pacific Ocean when he suddenly went half-blind in one eye. He made it to port. He's now almost totally blind. He can see shadows, he told me. He survived WWII; strikes from two bolts of lightning; numerous brawls (local toughs in bars enjoyed proving themselves against a 5'8" paratrooper and Dad, although he never admitted it, enjoyed proving that he could throw them across the room); a pit bull named Tank by the Virginia State Patrol, renamed Frank, who remained Tank and tried to kill him; and at least five strokes. Up till now, I'd say he's led a charmed life. The poor man isn't doing too well now, though. He's in the final stages of Parkinson's. God only knows why he wants to live to be 95, but that's what he told me the last time I talked to him. If I were incoherent and suffering, I wouldn't want to keep going, but the will to live is strong in that one.

https://patch.com/iowa/iowacity/melanoma-parkinsons-disease-may-be-genetically-linked

Staying up all night harms women's working memory

February 2, 2018   By Honor Whiteman

The working memory of women, but not men, is negatively impacted by a lack of sleep, say researchers.

Most of us have experienced the "brain fog" that comes after a bad night's sleep. A new study, however, reveals that when it comes to the effect of sleep deprivation on working memory, women fare worse than men.

The term working memory refers to our ability to hold information for short periods of time, at the same time as using it to make decisions or complete tasks.

One example of working memory is adding a contact to your cell phone; you are temporarily storing a string of numbers in your mind while simultaneously tapping them onto your screen.

Previous research found that working memory can be negatively impacted by a lack of sleep.

The researchers behind the new study — led by Frida Rångtell, a Ph.D. student in the Department of Neuroscience at Uppsala University in Sweden — sought to find out more about how a poor night's sleep impacts working memory.

One of the aims of this study was to determine whether lack of sleep affects the working memory of men and women differently, "[given] that sleep-wake regulation and its impact on cognitive performance differs between men and women," the team notes.

Rångtell and colleagues recently reported their findings in the Journal of Sleep Research.

A cause for concern?

The study included a total of 24 young adults, of whom 12 were men and 12 were women. Each subject completed two memory tests 1 week apart.

The first test was taken the morning after a full night's sleep — defined as around 8 hours — while the second test was taken the morning after an entire night of sleep loss.

The memory test required the participants to remember an eight-digit sequence of numbers. Each subject repeated the test 16 times, and the team used their average scores to estimate their working memory performance.

To the researchers' surprise, the results revealed that a night's sleep loss appeared to have no impact on the working memory of men.

Women who lost a night's sleep, however, showed a reduction in working memory in the tests, though they did not appear to notice this reduction.

Rångtell and colleagues say that this result may be a concern for women. "Working memory is central in cognitive functioning and key to perform[ing] efficiently and effectively in academic, professional, and social settings," they write in their paper.

With this in mind," they add, "it is highly conceivable that a drop in working memory performance due to acute sleep loss represents a risk factor for harmful accidents and mistakes."

As Rångtell points out, women might need to be extra cautious in their day-to-day activities after having a bad night's sleep.

"Our study suggests that particular attention should be paid to young women facing challenges in which they have to cope with both a high working memory load and a lack of sleep."

Frida Rångtell

Speaking of the study limitations, Rångtell notes that it is unclear whether a lack of sleep affects women's working memory throughout the day, as they only tested it during the morning hours.

Additionally, she notes that they are unable to conclude whether the effects of sleep deprivation on other areas of mental activity vary by sex.

https://www.medicalnewstoday.com/articles/320815.php?utm_source=newsletter&utm_medium=email&utm_country=US&utm_hcp=no&utm_campaign=MNT%20Daily%20Full%20%28non-HCP%20US%29%20-%20OLD%20STYLE%202018-02-02&utm_term=MNT%20Daily%20News%20%28non-HCP%20US%29

Gene Mutation Causes Hereditary Parkinson’s Disease

February 2, 2018

Scientists in Japan have used a fruit fly model to demonstrate that a mutation in the DNAJC3 gene is responsible for the death of dopaminergic neurons in Parkinson’s disease. 

AsianScientist (Feb. 2, 2018) – In a study published in Human Molecular Genetics, scientists in Japan have identified a genetic mutation that may drive the onset of a hereditary form of Parkinson’s Disease (PD). 

PD is the second most common neurodegenerative disorder, with up to ten million people affected worldwide. PD is characterized by a progressive increase in movement disability and impaired balance, which result from the loss of dopaminergic neurons in the brain. While most PD occurs sporadically, about 15 percent of cases are hereditary and linked to genetic mutations. Although the motor symptoms can be partly alleviated with dopamine replenishment therapy, there is still a need to develop new treatments that delay or prevent PD. 

In this study, researchers from Osaka University and Tohoku University in Japan have clarified how a mutation in the DNAJC13 gene may contribute towards the development and progression of hereditary form of PD known as PARK21. “Mutations in the DNAJC13 gene are known to cause defects in intracellular transport,” said Dr. Shun Yoshida of Osaka Universitu. “A significant amount of α-synuclein (αSYN), which builds up in neurons of patients with PD, is transported as cargo within neurons. 

Hence, we speculated that disrupting DNAJC13 might impair neuronal transport of αSYN.” The researchers induced mutant DNAJC13 in neuronal cells in a fruit fly model of PD and found that intracellular cargo trafficking became highly congested. αSYN was no longer transported correctly, and they formed intraneuronal protein aggregates, called Lewy bodies, in the fly brains, resulting in the loss of dopaminergic neurons. These defects had a significant impact on the motor performance of flies—those with defective DNAJC13 had much greater difficulty carrying out motor tasks such as climbing.

 “Our findings suggest that mutant DNAJC13 leads to accumulated αSYN, which may lead to Lewy body formation and subsequent damage to motor neurons and pathologies resembling PD,” said co-author Assistant Professor Takafumi Hasegawa of Tohoku University. “While this work was conducted in flies, we hope that these insights will move us toward a better understanding of how this mutation can lead to PD, as well as provide clues to identify the molecular targets for potential therapeutic interventions.” The article can be found at: Yoshida et al. (2018) Parkinson’s Disease-linked DNAJC13 Mutation Aggravates Alpha-synuclein-induced Neurotoxicity Through Perturbation of Endosomal Trafficking. 

Source: Osaka University; Photo: Shutterstock. Disclaimer: This article does not necessarily reflect the views of AsianScientist or its staff. 

https://www.asianscientist.com/2018/02/in-the-lab/parkinsons-disease-gene-dnajc13/

Sunovion’s Below-the-Tongue Therapy Eases Parkinson’s Movement Difficulties, Trial Shows

FEBRUARY 2, 2018  BY CATARINA SILVA IN NEWS.

Sunovion Pharmaceuticals’ below-the-tongue version of a Parkinson’s therapy was able to ease patients’ movement difficulties after the standard therapy levodopa wore off, a Phase 3 clinical trial showed.

Patients also tolerated the treatment — known as apomorphine sublingual film — well, the preliminary results showed. Sublingual means below the tongue, so the therapy’s full name refers to an apomorphine film placed below the tongue. The only approved version of the drug at the moment is administered by injection.

Parkinson’s symptoms stem from a drop in the brain’s levels of the neurotransmitter dopamine, which controls movement. Apomorphine, also known as APL-130277, works by mimicking dopamine’s activity in the brain.

Between 40 and 60 percent of Parkinson’s patients have ups and downs in their ability to control their movement. When they are responding well to a standard medication — that is, they are in an on period — they do all right. When their drug is losing its punch— or in an off period — they don’t do as well.

In an off period, patients can walk slowly, experience tremors and stiffness, and have trouble getting around. There are several types of off periods. One occurs only in the morning. Another occurs when a treatment is wearing off. And it’s impossible to predict when some off periods will occur.

Taking an oral medication is easier than other ways, so it’s the option most Parkinson’s patients prefer. But many have difficulty swallowing. Sunovion developed an under-the-tongue version of apomorphine to get around the problem of an oral version that needed to be swallowed.

“If an alternative method to deliver the medicine were approved, such as apomorphine sublingual film, it would be an important new option for healthcare providers and people with Parkinson’s disease,” Stewart Factor, the principal investigator of the Phase 3 study, said in a press release. He is chief of neurology at Emory University School of Medicine.

In the Phase 3 CTH-300 trial (NCT02469090), researchers randomly assigned 219 participants to receive apomorphine sublingual film or a placebo. The patients had been responding to the levodopa they were taking but experiencing at least one off episode per day. Their cumulative off time was at  least two hours a day.

The study’s primary goal was to see at week 12 if under-the-tongue apomorphine could improve patients’ movement within 30 minutes. A secondary objective was to identify the percentage of patients reporting a full on response within 30 minutes of treatment.

Preliminary results showed that the 109 apomorphine-film-treated patients were able to reduce their movement problems more than the placebo group within 30 minutes of putting the film under their tongue.

The therapy was still working 90 minutes after treatment, researchers. Patients tolerated it well, they said.

At week 12, more apomorphine-film-treated patients were experiencing a full on response within 30 minutes of dosing than the control group.

“For people with Parkinson’s disease and their families, OFF episodes can have a significant emotional and practical impact, and there are currently few treatment options for these events,” said Antony Loebel, the executive vice president and chief medical officer of Sunovion. “Based on these topline results, we believe that apomorphine sublingual film has the potential to be a well-tolerated, reliable, convenient and fast-acting therapeutic option for people living with Parkinson’s disease who struggle with OFF episodes.”

Sunovion plans to use the full trial results to support its New Drug Application in the United States for apomorphine sublingual film as a Parkinson’s therapy. The U.S. Food and Drug Administration has already granted it Fast Track Designation, a status aimed at accelerating its regulatory review.

https://parkinsonsnewstoday.com/2018/02/02/trial-shows-sunovions-below-the-tongue-therapy-eases-parkinsons-movement-difficulties/

Cause of severe genetic disease identified

February 2, 2018, Goethe University Frankfurt am Main

Child with AEC syndrome. Credit: Virginia Sybert

Mutations in the p63 protein lead to a number of disorders, but none is as severe as the AEC syndrome. Scientists at Goethe University Frankfurt in collaboration with a research group from the University of Naples Federico II have now discovered that this syndrome resembles diseases such as Alzheimer's, Parkinson's or ALS more closely than it does other p63-based syndromes. Their results, which were recently published in the scientific journal Proceedings of the National Academy of Sciences (PNAS), lay some groundwork for the development of new therapies.

The origin of many diseases lies in genetic abnormalities that result in malfunctions in the proteins they are encoding. A well-known und extensively studied example is p53, the tumour suppressor protein. Inactivation of p53 is one of the first stages in the development of a tumour. Mutations in the homologous protein p63, however, lead to a group of syndromes characterised by defects in embryonic development.

The transcription factor p63 functions in the stem cells of the upper skin (epidermis) and regulates their development and proliferation. Mutations in a certain part of the protein are responsible for the life-threatening disorder ankyloblepharon-ectodermal dysplasia-clefting (AEC), which is characterised, for example, by cleft palate and long-lasting skin erosions similar to severe burns. Some symptoms can be remedied or alleviated through surgery, but so far an approach to treat the cause has not been possible due to a lack of knowledge about the mutated p63 molecules.

The mutations that cause the AEC syndrome cluster in two domains of the p63 protein and do not overlap with those of the other syndromes associated to it. Since these domains are known to be a platform for protein-protein interactions, it has to date been assumed that the disorder is triggered through a loss of those interactions.

"Instead, we were able to show that mutations within p63 expose hydrophobic amino acid sequences that attach to each other in the cell and form large unstructured complexes. This leads to the loss of p63's function as a stem cell factor," explains Professor Volker Dötsch from the Institute of Biophysical Chemistry at Goethe University Frankfurt. Similar types of protein aggregates also cause other diseases, such as Parkinson's, Alzheimer's or ALS.

A wide variety of biochemical, biophysical and cell biological methods as well as a mouse model of the disorder were necessary to decipher this novel mechanism in detail. A success that was only possible thanks to close and interdisciplinary collaboration with the research group led by Professor Caterina Missero at the University of Naples Federico II. The researchers were also able to show that p63 regains its activity once the formation of aggregates is blocked. The research therefore opens up promising new avenues for treating the causes of the AEC syndrome.

More information: Claudia Russo et al. Protein aggregation of the p63 transcription factor underlies severe skin fragility in AEC syndrome, Proceedings of the National Academy of Sciences (2018). DOI: 10.1073/pnas.1713773115 

Journal reference: Proceedings of the National Academy of Sciences

Provided by: Goethe University Frankfurt am Main

https://medicalxpress.com/news/2018-02-severe-genetic-disease.html

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Trina Frómeta

• Marielle Argueza
 
• Feb 1, 2018

• 
  

• Early in her career, Trina Frómeta started her own school, Taller D’ Movimientos, and a touring company, Proyecto Movimiento, which took her to Cuba, Germany and India.  Nic Coury
  
  
  
  
  On a humid summer day, Dominican-born big-band conductor Billo Frómeta was arranging songs in his mountainside home in Caracas, Venezuela. As he sat at his piano, piecing together notes, his ears perked up. He was listening closely to the ruckus of the chicharras (cicadas) singing outside. Out of the possible thousands of insects outside of his window, he honed in on one. And he fumed.
  “Oh, he was so angry,” his daughter Trina Frómeta recalls. “The insect was out of tune!”
  For Frómeta, a 56-year-old choreographer now based in Carmel, growing up in Caracas was filled with all sorts of sounds and colors. She came from an artistic background. Her father was a popular composer and her mother, Haydée Grillo, was an opera singer and children’s book author. Today, Frómeta still draws on her parents for inspiration in her choreography, but she didn’t train strictly as a dancer growing up. She explored gymnastics and singing and, eventually, dance.

  “The vein was always in me,” she says of her late start in dance.

  She was pursuing a degree in graphic design at Jacksonville University in Florida when she made a leap, majoring in dance instead. With her degree she moved back to Caracas and danced professionally. She toured with them for four years, until she began choreography and teaching.

  After decades of teaching, she was awarded a full scholarship in 2015 from the Mark Morris Dance Group in Brooklyn to teach a dance class for people with Parkinson’s disease at the Carmel Academy of Performing Arts.

  Her life is a whirlwind of globetrotting, but as Frómeta puts it, “dance is all about movement.”

  Weekly: What was it like growing up in Venezuela?

  Frómeta: It was awesome. Not so much now when you see the news, it’s so sad and horrible. But when I was growing up, it was a rich country. “Rich,” not just because of the oil, but because we had the forest and the mountains. Our house was in the mountains, but the Caribbean Sea was only 30 minutes away. I was always near the sunset and the sunrise.

  What about growing up with artistic parents?

  My father was pretty famous in our country, and when we’d walk together in the streets, you couldn’t walk two meters without someone recognizing him. He would play everywhere, and for everyone, too. It wasn’t just celebration for the very top-class people, but also for low-income people. I think the key to his songs was that he developed a style that’s easy to enjoy and everyone could dance to.

  My mother is an inspiration for me today too, not only because of her singing her abilities. She was a children’s book author, and when I started to choreograph, I’d translate her books into dance.

  What’s it like teaching older students who have physical barriers?

  When I received my training for Dancing for Parkinson’s, the first thing they told me was that they’re not your patients, and [choreographers] aren’t doctors. So I treat them like dancers.

  But Parkinson’s disease can be physically demanding of people. So is dance.

  As I see it, dance has two branches: the physical arm and the social arm. Dance for Parkinson’s is the social arm.

  Everyone has a range of motion, even if you’re in a wheelchair. So because we can’t start from the basics like ballet, we start with their memories. And when you challenge them to think, they begin to relax and feel and move from the inside. Dance first comes from within, and then it’s movement.

  You’d be surprised: Once you get people with Parkinson’s thinking, oh boy do they move!

  What about dance do you think allows it to transcend generations and even abilities?

  In my years touring, I’ve been to something like 50 countries, with people who speak different languages. But choreography has no words. You don’t have to speak the language to understand and read the body. Choreography only has images. And as they say, an image is worth a thousand words.

  DANCE FOR HEALING, DANCE FOR PARKINSON’S happens every Monday from noon-1:15pm at Carmel Academy of Performing Arts, Mission and Eighth, Carmel. $10 donation. 624-3729, carmelacademyofperformingarts.com

  
  

  http://www.montereycountyweekly.com/people/face_to_face/trina-fr-meta/article_4cb6ac64-06ce-11e8-b89c-9391ea57ef43.html

Parkinson’s pilgrimage: hiking the Camino de Santiago for stem cell research

 GLOBAL UPDATE  Author: Almaz Ohene   Published: 1 February 2018

The Summit For Stem Cell Foundation is inviting the Parkinson’s community to join them on their Camino de Santiago pilgrimage hike to raise money for stem cell projects

The stem cell research organisation Summit For Stem Cell Foundation has raised US $5.5 million for Parkinson’s research – and is now aiming to raise a further US $8 million to see through stem cell transplantations in 10 Parkinson’s patients.

To help achieve the two-year fundraising target, the US-based foundation is inviting people from the Parkinson’s community to join them on their eight-day trek, from 3 to 11 October. This year they will be hiking the Camino Inglés, which is one of the least travelled routes on the Camino de Santiago pilgrimage trail in Spain.

Sherrie  Gould, founder and movement disorders advisor, Summit For Stem Cell, says: “We’ve had 33 people sign up so far and have 27 spots left. We’ll have a bi-lingual English and Spanish speaking guide for every 10 people.

“We are really hoping that we’ll get people signing up to help our cause from Europe, as it’s right on your doorstep.” She says budgets for the trip are still being finalised, but the cost is likely to be US $1,500.

Sherrie is keen to stress that anyone participating with Parkinson’s must also have a ‘buddy’. The buddy will be responsible for their partner, assisting them if they need to stop or go home sooner.

This is the fourth trek organised by the Summit For Stem Cell Foundation. A team climbed Mount Kilimanjaro in 2011 and reached base camp at Mount Everest in 2013.

The Summit For Stem Cell team at basecamp, Everest

In 2016, we reported on how the Summit team, with the help of guides and pack horses, hiked for more than 30 miles over seven days to the summit of Machu Picchu, Peru – raising over US $120,000 in funds for research.

She says those who sign up for the hike will receive regular email updates with advice on how best to train and prepare themselves. “People will be able to see how many miles we’re doing and they will have a whole hiking schedule. My dream is to hold hands and join forces with the Parkinson’s community in Europe.”

The project began in July 2010 when medical professionals from The Scripps Research Institute and Scripps Clinic, San Diego, CA, and the Parkinson’s Disease and Other Movement Disorders Center, La Jolla, CA, collaborated on Parkinson’s research using stem cells. Extensive funding was needed to support clinical trials.

The organisation has since raised millions of dollars, with 97% of all donations going directly to research. They are able to keep overheads low as everyone working for the organisation does so voluntarily – apart from the scientists carrying out the research.

Carrying out research

Sherrie says: “We have catheters that we want to use to transplant the cells into the brains of our patients. So, right now we’re testing those catheters in a petri dish and will start a clinical trial later this month.”

The Summit For Stem Cell Foundation is part of a collective called G-Force PD, which involves five of the leading stem cell research teams from Europe, Japan and the US.

Sherrie says: “The whole concept of the group is for people to get together and just discuss problems. You know, people are coming with solutions, as a team we learn from each other, we discover how we can help each other and discuss the roadmap to the clinic.”

Their next meet up is in Sweden this April.

For comprehensive information about stem cell treatment please visit the European Parkinson’s Disease Association (EPDA) website.

http://parkinsonslife.eu/camino-de-santiago-stem-cell-parkinsons-research/

FoxFeed Blog: Drug Reverses 'Off' Periods in Phase III Trial

Posted by  Rachel Dolhun, MD,  January 30, 2018

People with Parkinson's disease (PD) who experience "off" periods, times when symptoms return because medication isn't working optimally, soon may have a new treatment option. Sunovion Pharmaceuticals Inc. recently announced positive Phase III results of under-the-tongue apomorphine, which mimics the effect of dopamine, the brain chemical that decreases in PD.

"Off" times can occur in the morning, upon awakening or at any time throughout the day. They may happen gradually, such as when medication effect wears off before the next dose is due, or suddenly and unpredictably. Treating "off" typically involves adjusting medication dose or timing, or for unexpected "off" times, using an apomorphine injection as needed. This medication is effective but has limitations -- giving the injection can be challenging for some, it can cause low blood pressure, and doctors have to administer the first dose to watch for side effects. So, researchers formulated apomorphine into an under-the-tongue strip to treat up to five "off" periods per day. It's an on-demand, add-on therapy to a person's regular Parkinson's treatment regimen.

The randomized, double-blind, placebo-controlled Phase III trial tested the apomorphine strip in 109 people with PD who had "off" periods. The medication significantly improved motor symptoms within 30 minutes and the effect lasted for 90 minutes. The most commonly reported side effects were nausea, sleepiness and dizziness. 

Researchers are analyzing the full study outcomes and plan to present them at a future scientific meeting. Sunovion expects to use the results this spring in their New Drug Application (NDA) -- a formal proposal asking the Food and Drug Administration (FDA) for approval.

The Michael J. Fox Foundation funded Phase I and II studies on under-the-tongue apomorphine. 

https://www.michaeljfox.org/foundation/news-detail.php?drug-reverses-off-periods-in-phase-iii-trial

Yeast Assay Helps Reveal Genesis of Amyloids and Prions

February 1, 2018

Method unravels nucleation of the disease-causing protein fibrils

Amyloids are abnormal proteins that aggregate into fibrils, causing dreadful human diseases. They are strongly implicated in Alzheimer’s disease, a leading cause of dementia in elderly people. Mad cow disease, a neurodegenerative disease, results from infection by prions, which are amyloids that can spread between cells and organisms.  

Despite voluminous research on amyloids and prions, researchers still cannot explain how harmless, normal protein sequences go awry and assume the deadly amyloid shape.

“The initial amyloid ‘nucleation’ is extremely difficult to investigate in animal models,” says Yury Chernoff, a professor in the School of Biological Sciences. “To begin with, initial nucleation is extremely rare. We have no idea where the initial amyloid ‘nucleus’ comes from and what promotes its formation. And then accumulation of an amyloid to detectable levels takes a very long time.”

For these reasons, Chernoff’s Georgia Tech team and collaborators in Germany and Russia (St. Petersburg State University, where Chernoff also directs a research group) turned to yeast as a model to study the human amyloids. They published their findings in the Journal of Biological Chemistry in early January 2018.

Healthy vs damaged yeast (Courtesy of Yury Chernoff)

According to Chernoff, yeast also form prions, and the initial nucleation of a yeast prion is also rare. “However,” he says, “it is easier to detect prion nucleation in yeast that in humans, because it is possible to analyze large numbers of yeast cells, and because yeast prions cause easily detectable traits.”

The researchers fused mammalian amyloid-forming proteins to the yeast prion-forming protein. They found that the resulting chimeric proteins nucleate an amyloid state in yeast much more frequently than yeast prion-forming protein does on its own. “Because the resulting amyloid nucleus further converts a normal yeast protein,” Chernoff says, “amyloid formation could be detected by the appearance of an easily observable trait, such as growth on specific medium.”

The researchers successfully applied the method to several proteins, including amyloid beta (associated with human Alzheimer’s disease), PrP (associated with mad cow disease), alpha synuclein (associated with Parkinson’s disease), and amylin (associated with type II diabetes).

“This assay opens a wide window to the early stages of dreadful human diseases caused by abnormal protein aggregation,” Chernoff says. “The more we understand how these diseases originate, the better we can develop treatments.”

Beyond revealing how human proteins undergo amyloid nucleation, Chernoff says, the assay will help researchers discover factors affecting amyloid nucleation in cells, find agents that favor the development of diseases, and identify treatments and conditions that can prevent the triggering cause of a disease.

Chernoff’s Georgia Tech team working on this project included current  Ph.D. student Pavithra Chandramowlishwaran and former Ph.D. student Meng Sun, who are co-first authors on the paper, as well as undergraduate researcher Kristin Casey and research scientist Andrey Romanyuk.

Figure Caption

Growth of the specially designed yeast strain on a specific medium enables researchers to detect nucleation of disease-related fibrils by human amyloid beta protein, associated with Alzheimer’s disease.

This work was supported by grants from the National Institute of Aging, NIH (through Emory University’s Alzheimer’s Disease Research Center) and the Creutzfeldt-Jakob Disease Foundation, as well as the Russian Science Foundation and the Russian Foundation for Basic Research (to the St. Petersburg group).  

http://www.news.gatech.edu/2018/01/30/yeast-assay-helps-reveal-genesis-amyloids-and-prions#more_photos

Terranova's Stephen Bittel Donates $450,000 to Parkinson's Foundation

February 1, 2018  - Parkinson's Foundation

Donation to Support Expansion of Centers of Excellence Network

Stephen Bittel

MIAMI, Feb. 1, 2018 /PRNewswire-USNewswire/ -- The Parkinson's Foundation today announced that Stephen Bittel, chairman and founder of Terranova, has made a $450,000 donation to support the expansion of the foundation's Centers of Excellence network. Additionally, Bittel, who manages Terranova's commercial real estate portfolio valued over $1 billion, pledged to raise an additional $1 million to fund ongoing fellowship grants.

Parkinson's, which currently affects an estimated one million Americans and 10 million people worldwide, is the second-most common neurodegenerative disease after Alzheimer's and the 14th-leading cause of death in the United States. 

"We are extremely grateful for Stephen's generous donation and his ongoing support of our mission," said John L. Lehr, CEO of the Parkinson's Foundation. "His contributions will have a significant impact on our community, as we continue to lead the charge in making life better for people with Parkinson's and working toward a cure."

Bittel's donation will support the Parkinson's Foundation's Centers of Excellence network, which is comprised of 42 medical centers in the U.S. and worldwide and allows the foundation to set the standard of care for Parkinson's and lead the development of new treatments and care models. Led by renowned clinicians in Parkinson's care, the centers deliver care to more than 100,000 individuals with Parkinson's every year. Parkinson's Foundation Center of Excellence status is the most respected and sought-after designation in the field of Movement Disorders, with each center required to meet rigorous clinical, research, professional education, and patient service criteria.

Bittel also pledged to leverage his personal and professional networks to raise $1 million to support the Parkinson's Foundation's fellowship grants. The grants are awarded annually to encourage young scientists, clinicians and students to devote their talents to the study of Parkinson's disease.

Said Bittel: "As part of my ongoing commitment to giving back and supporting our community, I am grateful for the opportunity to support the Parkinson's Foundation, an organization that is truly making an impact and working hard to advance a greater good."

Bittel first became involved with the organization after seeing the impact of the disease on his Executive Vice President Mindy McIlroy, who was diagnosed with Parkinson's in 2014. The news made her determined to tackle her Parkinson's condition head-on and summon all her resources at a personal and community level to pursue a cure. While continuing her responsibilities at Terranova, Mindy joined the Board of Directors of the Parkinson's Foundation and became chair of Moving Day Miami, a walk for Parkinson's, in 2014 and remained a co-chair in 2015. This year, Mindy also became co-chair of the Parkinson's Foundation's Development Committee. In 2014, Team Terranova at Moving Day Miami was the first in the organization's history to raise more than $100,000, thanks to Bittel's offer to personally match every dollar raised.

Over the years, Terranova's involvement with the foundation has included serving as presenting sponsor of Moving (2014 – 2016) and earning the distinction of Moving Day Miami's Top Corporate Team (2014 – 2017). 

About the Parkinson's Foundation 

The Parkinson's Foundation makes life better for people with Parkinson's disease by improving care and advancing research toward a cure. In everything we do, we build on the energy, experience and passion of our global Parkinson's community. For more information, visit www.parkinson.org or call (800) 4PD-INFO (473-4636).

About Parkinson's Disease 

Affecting an estimated one million Americans and 10 million worldwide, Parkinson's disease is the second-most common neurodegenerative disease after Alzheimer's and is the 14th-leading cause of death in the United States. It is associated with a progressive loss of motor control (e.g., shaking or tremor at rest and lack of facial expression), as well as non-motor symptoms (e.g., depression and anxiety). There is no cure for Parkinson's and 60,000 new cases are diagnosed each year in the United States alone.

Media Contact: 

Martin Diaz 

(305) 403-2080 

mdiaz@roarmedia.com 

www.RoarMedia.com

SOURCE Parkinson's Foundation

Related Links

http://www.parkinson.org

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