9-Year-Old Fashion Designer Fights Cystic Fibrosis

Tonight the city will rally around one nine-year-old girl and a cause that has become front and center in her life. Vanessa Bolano has her story.

She was born a singer, a dancer, and a fashion designer. It’s a pretty impressive resume for a nine-year-old, especially own who is battling cystic fibrosis.

Cystic Fibrosis attacks your digestive disease and lungs, and as of now there is no cure.

“You never want to have a newborn and have nurses tell you that they’re not going to live very long, and nine years ago I think the average lifespan was about 12 to 15 years. Now the average life span has gotten to, I think, mid 30’s,” says Grace’s mother Leah Bauer.

Ever since Grace Rose could dress herself she’s been interested in fabrics, styling, and eventually designing. Now, she even has her own blog where she talks about CF and she sells her clothes, with a percentage of sales going towards research.

“One day I will never have to do this stuff. Not the clothing, the treatment, and maybe one day I will be able to cure CF, I hope,” says Grace Rose.

Through research Grace’s projected lifespan has doubled. She knows this and that’s why she’s vocal about it, trying to educate others about the need for more research. It’s her ultimate goal, not just for her, but for thousands of others living with cystic fibrosis.

Friday evening Grace Rose is hosting a fundraiser to help raise money for cystic fibrosis. It’s at Twist on St. Charles Avenue. Cocktail hour starts at 5:30pm, and at 6:30pm there’s a fashion show featuring Grace’s designs. Admission is $25 and 100% of the proceeds goes towards research.

Grace’s blog is extra special as a way for kids with cystic fibrosis to bond since they usually can’t because of the risk of spreading harmful bacteria to each other. For a link to her blog click here.

Copyright © 2012, WGNO-TV

Proteostasis, Scripps Research expand collaboration on cystic fibrosis

Proteostasis Therapeutics, a therapeutics developer focusing on regulating protein homeostasis for neurodegenerative and orphan diseases, has expanded its collaboration with The Scripps Research Institute (TSRI) to encompass an additional funded research project focused on biology and the testing of small molecule modulators of protein folding and trafficking for the treatment of cystic fibrosis (CF).

The expansion will enhance the ability of Proteostasis to perform chaperone-based high throughput screening in multiple disease relevant cellular models to identify proteostasis regulators that will correct the folding, trafficking and function of the most common mutation of the cystic fibrosis transmembrane conductance regulator (CFTR), Delta F508, both alone and in combination with agents currently in development or on the market.

The expansion follows Proteostasis’ recently announced collaboration with the Cystic Fibrosis Foundation to research, develop and commercialize therapies to treat patients with Delta F508.

Working with the laboratory of William Balch, Ph.D., professor of cell biology at TSRI, scientists at Proteostasis have used an integrated platform comprised of genomics, proteomics, functional assays and medicinal chemistry to identify compounds that regulate key folding and trafficking pathways in the cell. To date, these compounds have demonstrated significant efficacy in CF-specific cellular models. Under the expanded collaboration, Proteostasis will provide funding for this research and will have exclusive rights to license any technology originating from the research.

“Dr. Balch’s expertise in CF biology and protein homeostasis complements our proprietary technology for characterizing proteostasis network pathways in normal and disease states. The expansion of this collaboration further underscores our commitment to working with leading academic scientists and institutions in our focus areas in neurodegenerative and orphan diseases,” stated Peter Reinhart, chief scientific officer, Proteostasis Therapeutics.

Vertex Receives European Approval for KALYDECO™ (ivacaftor)

GENEVA, Switzerland – July 27, 2012

Vertex Pharmaceuticals Incorporated (Nasdaq:VRTX) announced today that the European Commission has approved

KALYDECO TM (ivacaftor) for people with cystic fibrosis (CF) ages 6 and older who have at least one copy of the

G551D mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

KALYDECO is the first medicine to target the underlying cause of the disease in these patients.

Cystic fibrosis is a rare genetic disease caused by defective or missing CFTR proteins resulting

from mutations in the CFTR gene. In people with the G551D mutation, KALYDECO helps the

defective CFTR protein function more normally. An estimated 1,100 people in Europe have the

G551D mutation. The approval of KALYDECO comes two months after the European

Committee for Medicinal Products for Human Use (CHMP) issued a positive opinion and is the

first European approval for Vertex.

“The European approval of KALYDECO is an important step in our commitment to bring

transformative new medicines to people with cystic fibrosis,” said Jeffrey Leiden, M.D., Ph.D.,

Vertex’s Chair, President and Chief Executive Officer. “We’re preparing to supply pharmacies

throughout Europe with KALYDECO and are working closely with national health authorities to

make it available to patients as quickly as possible.”

The European Commission’s decision is based on positive findings from two global Phase 3

studies in which KALYDECO demonstrated significant and sustained improvements in

breathing, weight gain and other measures of disease for people ages 6 and older with this

specific genetic mutation, compared to placebo. In addition, people who took KALYDECO were

55 percent less likely to have pulmonary exacerbations, or periods of worsening in the signs and

symptoms of the disease that often require treatment with antibiotics and hospital visits, than

those who received placebo.

Fewer people in the KALYDECO treatment groups discontinued treatment due to adverse events

than in the placebo groups. The majority of the adverse events associated with KALYDECO

were mild to moderate. Adverse reactions very commonly observed in those taking

KALYDECO (>1/10) included headache; upper respiratory tract infection (common cold)

including sore throat and nasal congestion; rash; diarrhoea; and abdominal pain (stomach ache).

Two patients in the group receiving KALYDECO reported a serious adverse reaction of

abdominal pain.

“Cystic fibrosis is a life-threatening genetic disease that causes devastating effects, particularly

in the lungs, including the build up of thick, sticky mucus which becomes infected and severely

limits normal breathing,” said Stuart Elborn, M.D., KALYDECO investigator and President of

the European Cystic Fibrosis Society. “KALYDECO is one of the most important advances in

the treatment of cystic fibrosis since the discovery of the CF gene in 1989. By treating the

underlying cause of the disease in people with the G551D mutation, KALYDECO helped them

breathe more easily, gain weight and resulted in certain improvements in quality of life.”

“KALYDECO is an exciting new beginning in the treatment of cystic fibrosis, but we’re not

finished,” said Peter Mueller, Ph.D., Chief Scientific Officer and Executive Vice President of

Global Research and Development at Vertex. “The scientists at Vertex, in collaboration with

doctors, patients and advocates around the world, are working hard to develop additional new

medicines to treat the underlying cause of the disease in many more people with cystic fibrosis.”

KALYDECO was discovered as part of a collaboration with Cystic Fibrosis Foundation

Therapeutics, Inc., the nonprofit drug discovery and development affiliate of the Cystic Fibrosis



KALYDECO™ (ivacaftor) is the first treatment to target the underlying cause of CF in people

with the G551D mutation in the CFTR gene. Known as a CFTR potentiator, KALYDECO is an

oral medicine that aims to help the CFTR protein function more normally once it reaches the cell

surface, to help hydrate and clear mucus from the airways. KALYDECO (150mg, q12h) was

first approved by the U.S. Food and Drug Administration in January 2012, for use in people with

CF ages 6 and older who have at least one copy of the G551D mutation in the

CFTR gene. Vertex retains worldwide rights to develop and commercialize KALYDECO.  KALYDECO is

under Priority Review by the Therapeutic Product Directorate (TPD) of Health Canada, and an

application for review has been submitted to the Therapeutic Goods Administration (TGA) of



Fundraisers back in the saddle for cystic fibrosis

After raising £1,400 for Help the Heroes last year by taking part in the London to Paris sponsored cycle ride, former Chew Valley School pupil Nathan Mabbs-Godfrey has been on his bike again, this time for cystic fibrosis.

Nathan raised £1,520 by taking part in the Three Cities Cycle Ride, which took in London, Harwich, the Hook of Holland, Amsterdam and Brussels. Included in this amount is £250 raised at the Boyz Noyz evening at Chew Valley Rugby Club.

Nathan was delighted with how the ride went. He said: “We started in Stratford, London, then we cycled to Harwich. We caught an overnight ferry to the Hook of Holland. From there we cycled to Amsterdam, Amsterdam to Turnhout, and from there to Brussels.

“We did it over four days but time on the saddle was about 27 hours. It was a great feeling completing the challenge, but there was a spell of about an hour when I didn’t think I could make it, but the people I was with pulled me through it. ”

To add to Nathan’s total visit his fundraising page at www.doitforcharity.com/nmabbs, or call him on 07974 154976.

In swing at golf course

ORGANISERS of a Gower golf day hope to raise around £8,000 for the Cystic Fibrosis Trust during an annual event to be held at Langland golf course on Friday.

The occasion is now in its fourth year and organised by the family of 5-year-old Hannah Gorbey, who was diagnosed with cystic fibrosis at birth.

Her father Tony, who will take part in the day, said: “We are hoping to raise around £8,000, which will go towards gene therapy trials that have just started. We have 20 teams competing and the first will tee-off at 9am and the last at 1pm.

“There are lots of different prizes and local businesses have been really supportive.”

Caltra cycle raises thousands for cystic fibrosis patients

By Kernan Andrews

More than €30,000 has been raised in Galway to improve facilities and resources for people with cystic fibrosis attending University Hospital Galway’s CF Unit.

The money was raised following a cycle in the Caltra area during the Easter period which was attended by more than 200 people.

The event was organised by Mary, Áine, and Margaret Booth, and Lisa Landers. The cyclists were joined on the day by friends, neighbours, work colleagues, and sporting stars. A total of €30,600 was raised through the event.

“The proceeds of the cycle will go directly to improve facilities and resources for over 60 children and adults with CF attending University Hospital Galway – both the CF Paediatric Unit and the CF Adult Unit,” said Mary Lane Heneghan, chair of Galway Cystic Fibrosis.

The Caltra group has raised more than €60,000 in the last 15 months. It will be used to improve hospital facilities at Galway University Hospital for people with CF including isolation en-suite facilities to reduce the risk of cross infection in cystic fibrosis patients

Madison County: Richmond teen goes to Washington to push for aid for cystic fibrosis

Emmalee Clark, 13, of Richmond joined teens from across the United States in late June to press elected officials in Washington, D.C., to support cystic fibrosis drug research and development, and to protect health coverage for people with the disease.

Clark participated in Teen Advocacy Day on June 28 on behalf of her younger brother, Alex, who has cystic fibrosis. Alex could not make the trip to Washington because people with cystic fibrosis cannot be near one another without risking life-threatening germ transmission.

During the event, Emmalee met one-on-one with the offices of Kentucky Sens. Mitch McConnell and Rand Paul, and Reps. Ben Chandler, Hal Rogers and Geoff Davis.

“I am honored to be part of Teen Advocacy Day and go to Washington, D.C., to fight for my brother and other people with this terrible disease,” said Emmalee, the daughter of David and Kim Clark of Richmond.

Intrinsic Imaging Awarded International Phase III Clinical Trial for Cystic Fibrosis

This international multicenter clinical trial studies an investigational new drug targeted at treating CF. During this trial, Intrinsic Imaging will evaluate Cystic Fibrosis lung pathophysiology to gain insights into the treatment’s effect on major manifestations of CF.

Boston, MA (PRWEB) July 18, 2012

Intrinsic Imaging, an ISO 9001:2008 certified and GAMP 5 medical imaging core lab specializing in providing imaging core lab services for clinical trials, announces today that it was recently awarded an important Phase III clinical trial for the study of Cystic Fibrosis (CF).

This international multicenter clinical trial studies an investigational new drug targeted at treating CF. During this trial, Intrinsic Imaging will evaluate Cystic Fibrosis lung pathophysiology to gain insights into the treatment’s effect on major manifestations of CF.

“We are honored to have been selected to provide central imaging core lab services for this important Phase III trial for Cystic Fibrosis,” said Todd A. Joron, BSc. MBA, President and Chief Operating Officer, Intrinsic Imaging. “We look forward to contributing our imaging expertise in support of treating this systemic and complex disease.”

Intrinsic Imaging’s team of more than sixty board-certified diagnostic radiologists has sub-specialization in all therapeutic areas. The team dedicated to this trial consists of 12 fellowship trained board-certified radiologists with deep therapeutic expertise in thoracic disease including Cystic Fibrosis, Chronic Obstructive Pulmonary Disease, Emphysema, Interstitial Lung Disease (ILD) and the full scope of pulmonary tumors.

“Intrinsic Imaging’s capabilities in evaluating Cystic Fibrosis lung pathophysiology include, but are not limited to, the interpretation and scoring of bronchiectasis, mucous plugging, peribronchial thickening, parenchymal opacities and hyperinflation, among others,” said Dr. Amit Mehta, Vice-President, Radiology at Intrinsic Imaging. “Our team has specialized training and expertise in adult and pediatric pulmonary disease and are readily able to provide clinical image management and radiological review for Cystic Fibrosis as well as other pulmonary related clinical trials.”

Cystic fibrosis is a rare, life threatening genetic disease marked by the production of abnormally viscous mucus by the affected glands, usually resulting in impaired pancreatic function and chronic respiratory infections. Over time, inflammation and infection cause injury and structural changes to the lungs, leading to a variety of symptoms and in later stages, changes in the architecture of the lung further exacerbate difficulties in breathing.

About Intrinsic Imaging LLC
Located in Boston, Massachusetts, Dallas, Texas and San Antonio, Texas, Intrinsic Imaging is an ISO 9001:2008 certified and GAMP 5 medical imaging core lab specializing providing imaging core lab services for clinical trials. With its team of more than sixty board-certified diagnostic radiologists, its robust and scalable clinical imaging technologies and its ISO certified and registered quality management system, Intrinsic Imaging is ideally positioned to provide unprecedented imaging core lab services around the world. For more information, please visit http://www.IntrinsicCRO.com.

For the original version on PRWeb visit: http://www.prweb.com/releases/prweb2012/7/prweb9708103.htm
Read more: http://www.timesunion.com/business/press-releases/article/Intrinsic-Imaging-Awarded-International-Phase-III-3715533.php#ixzz21043yaDZ

Florida Hospital places first Central Florida patient on lung transplant list

Orlando Business Journal by Abraham Aboraya, Reporter

Date: Monday, July 16, 2012, 2:50pm EDT


Health Care

Dr. Hartmuth Bittner and Dr. Andres Pelaez of Florida Hospital.
Florida Hospital

Dr. Hartmuth Bittner and Dr. Andres Pelaez of Florida Hospital.

Reporter- Orlando Business Journal
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Florida Hospital    has placed Central Florida’s first patient on a list to get a lung transplant, the hospital announced July 16.

Dr. Andres Pelaez, Florida Hospital medical director of lung transplantation, said once a patient is on the list, it typically takes 3 to 6 months before a donation comes up for transplant. Nationwide, about 1,600 patients get lung transplant annually, mostly for cystic fibrosis, and about 20 patients leave Central Florida to get the procedure.

“It’s much easier for the patients,” said Dr. Daniel Haim with the Central Florida Pulmonary Group P.A., which is partnering with the hospital on the program and can refer patients locally.

With the addition of lung, Florida Hospital Transplant Institute is capable of transplanting all organs that can be transplanted. Additionally, Florida Hospital Transplant Institute performed Central Florida’s second heart transplant July 13. Check here to read about the area’s first transplant and here to read about Orlando Health dropping its heart transplant program.

Dr. Hartmuth Bittner, surgical director of the heart and lung transplant program, will be the surgeon performing the transplants. Bittner was hired about three months ago.

Boy, 10, Treated Daily for Cystic Fibrosis, Bowls Perfect Game

By Connor Burton

Jul 16, 2012 6:30pm
ht sam grayston perfect game ll 120716 vblog Boy, 10, Treated Daily for Cystic Fibrosis, Bowls Perfect Game (Courtesy of Grayston Family)

A 10-year old California boy who was diagnosed with cystic fibrosis as an infant is defying all the odds.

Sam Grayston, 10, of Laguna Hills, Calif., bowled a 300 last Friday at the Forest Lanes Bowling Center in Lake Forest, Calif.

“The pressure started to build and I threw the ball a little weird,” Sam said. “I was really nervous, but it kept going right to left and then all the pins fell.”

Sam’s mother, Laurie Grayston, said that Sam had part of his intestine removed and was fed through a feeding tube until he was nine months old. She was also told that Sam would never be able to sit up on his own.

“I didn’t want to believe it,” said Laurie. “We didn’t believe he was going to be held back. We thought he was going to be normal.”

Now Sam has to undergo daily treatment for his cystic fibrosis. This includes a few arduous breathing treatments every morning and night, including a treatment that requires him to wear a vest that shakes him vigorously to clear mucus from his lungs. He also has to take medicine each time he eats and has to drink constantly to avoid dehydration.

Despite what therapists and doctors predicted, Sam started to walk and has spectacular hand-eye coordination.

His father, Joe, a Los Angeles County fire captain and former professional baseball player for the Texas Rangers, taught his son how to play baseball and golf.

“He is great with almost any sport that uses a ball and a bat,” Joe said. “He is such a great athlete and he has a quiet confidence about him.”

“He has the most amazing swing as a lefty, in golf and baseball,” Laurie said. “He was on the 10 and 11 year old baseball All-Star team as a nine year old.”

According to his mother, Sam just wanted to try bowling for fun and now he can’t get enough of it. He wants all of his birthday parties to be at the bowling alley. The Graystons also set him up in a Youth Bowling League and started setting him up with private lessons.

“He just took off from there,” Laurie said. “I drop him off around 10 and he will play until 6 p.m. He is just focused on it; he is focused on any sport he does.”

However, Sam’s passion for bowling conflicted with his ability to play baseball and he had to make a decision.

Sam decided to take some time off from baseball so he could participate in his weekend bowling league. But, initially, this decision was met with some resistance from his parents.

“I had been his baseball coach for a few years and when he told me he was going to stop playing baseball and bowl instead I was like ‘Um, what?’” Joe said laughingly.

But, Sam’s parents said that they want him to follow his dream and do whatever he wants.

When Sam saw the last pin fall in the 10th frame he was elated.

“Happiness, lots of happiness. Most of my friends were there and everyone was watching,”  Sam said.

Sam said that his favorite sport is bowling and his next big goal will to bowl a 700 series over a course of three games.

“Sam is an inspiration,” his mother said.  ”He never complains and he is always in a good mood. He is just an all around amazing boy.”