The Global Genes Project Aims to Battle Rare Disease Through the ‘Vote4Hope’ Campaign and Pepsi Refresh Competition

The Global Genes Project Aims to Battle Rare Disease Through The ‘Vote4Hope’ Campaign and Pepsi Refresh Competition

Over 15 Million Children in America Are Estimated To Suffer From 7000 Unique Rare Diseases; Children Unite As ‘Ambassadors of Hope’ To Win $250K Pepsi Grant For The Global Genes Fund

DANA POINT, CA – September 1, 2010 – All Kids Deserve To Have Hope For A Cure – The ‘Vote4Hope’ Pepsi Refresh Rare Disease Campaign starts today. The Children’s Rare Disease Network (www.crdnetwork.org) and The Global Genes Project (www.globalgenesproject.org) are inviting the public, as well as caregivers, family and friends of the millions of children who suffer from rare diseases and disorders, to ‘Vote4Hope’ throughout September during The Pepsi Refresh Project.

The ‘Vote4Hope’ Rare Disease campaign is designed to help drive awareness for the unmet medical needs of the global rare disease community, and to support the development of the Global Genes Project. The Pepsi Refresh ‘Vote4Hope’ campaign opens today at http://www.refresheverything.com/fundhopeforsickkids and will continue through September 30.

“We entered The Pepsi Refresh grant competition with the goal of continuing education surrounding rare diseases and to generate the global awareness the rare disease community deserves,” said Nicole Boice, founder and president, Children’s Rare Disease Network and the Global Genes Project. “Many rare diseases affect small numbers of patients and because of the rarity of each condition, the public is often unaware of these chronic and life threatening conditions. However, collectively millions of people worldwide have rare diseases and everyone knows an adult or child suffering from a rare condition.”

If the Global Genes Project wins The Pepsi Refresh grant competition, funding will go to support further development of the Global Genes Fund. The Global Genes Fund is an innovative platform, which promotes as number of rare disease initiatives including ‘in-a child’s-lifetime’ research and therapy development. The development of the Global Genes Fund will provide tremendous value to the millions of children, families and rare disease organizations that support them.

Time To Refresh Rare Disease Facts

A staggering 250 million people worldwide are estimated to suffer from approximately 7,000 different forms of rare diseases with the vast majority having no therapies at all. In the United States, FDA statistics show that approximately 350 new drugs have been developed for the entire rare disease patient population since the passing of the Orphan Drug Act in 1983 despite incentives put in place by the federal government.

According to the National Institutes of Health (NIH), 30 million Americans are afflicted with a rare disease, or 1 in 10 people. The National Organization for Rare Disorders (NORD) estimates that of the 30 million people in the United States suffering from rare diseases, 50 percent or approximately 15 million, are children. Many rare diseases appear early in life, and about 30 percent of children with rare diseases will die before reaching their fifth birthday.

Rare Kids Become ‘Ambassadors of Hope’

Throughout the month of September and during the “Vote4Hope” Pepsi Refresh Rare Disease Campaign, pictures, stories and videos of children living with rare diseases will be featured on a daily basis on the Vote4Hope website: http://www.vote4hope.org/.

Called the ‘Ambassadors of Hope’, these children are representing the 7000 different rare conditions and suffer from diseases including: Ataxia-Telangiectasia, Autosomal Recessive Polycystic Kidney disease, Batten disease, Branchiootorenal Syndrome, Canavan disease, Cystic Fibrosis, Dravet Syndrome, Duchenne Muscular Dystrophy, Fibrous Dysplasia, Joubert Syndrome, Mitochondrial Encephalomyopathy, Niemann Pick Type C, Hutchinson–Gilford Progeria, Spinal Muscular Atrophy, Subcortical Band Heterotopia, Tay-Sachs and Type 2 Gaucher’s disease. To submit a child with a rare disease to the Ambassadors of Hope program, please visit the Vote4Hope website at http://www.vote4hope.org/.

“The ongoing lack of treatments for thousands of rare diseases has created an immense burden on the U.S. healthcare system and leaves millions of children and their families in despair,” added Boice. “At the Global Genes Project, our focus is on creating a unified voice and a platform for hope for this community, with continued efforts on educating the public and our government leaders on the importance of creating a national strategic plan for rare disease.”

About The Global Genes Project

The Global Genes Project is a campaign of the Children’s Rare Disease Network and is a grassroots effort with the goal to increase awareness about the prevalence and lack of treatments for rare diseases worldwide. The Children’s Rare Disease Network is a registered 501c3 non-profit organization. For more information, visit http://www.crdnetwork.org/ or http://www.globalgenesproject.org.

About The Pepsi Refresh Project

The Pepsi Refresh Project is giving America the power to decide how to fund good ideas, big and small, that help refresh our world. In an effort to support those who generate innovative, optimistic ideas, the Pepsi Refresh Project http://www.refresheverything.com, will award more than $20 million in 2010 to move communities forward. Each month, The Pepsi Refresh Project accepts 1,000 ideas and asks America to choose which ideas will win a Pepsi Refresh Grant.

For more information contact:
Jacqueline Tanzella
Spark Public Relations
jacqueline@sparkpr.com
415-321-1889

Nicole Boice
Global Genes Project
nicoleb@rareproject.org
949.248.RARE (7273)

Children’s Rare Disease Network Partners With Medpedia.com To Create Rarespace

Online Knowledge Share Platform to Provide Valuable Information to Rare Disease Community

Dana Point, Calif. (June 29, 2010) – Every parent needs a supportive, collaborative network full of information where medical professionals, researchers, patients, parents, advocates and the general public share knowledge about the rare childhood diseases that affect 22.5 million American families. RareSpace is an online knowledge sharing platform designed in partnership with R.A.R.E. Project, the Children’s Rare Disease Network and Medpedia.com to help grow resources for children with special needs. This resource is available online now at RareSpace.

“RareSpace is a unique and valuable tool for families caring for children with rare diseases,” says Jonathan Jacoby, CEO of the R.A.R.E Project. “With the help of Medpedia.com, RareSpace will become a safe place to share important information aggregated from the rare disease community at large, which is vital to finding hope for children.”

It’s the collaborative structure of RareSpace that makes it truly unique. The site will educate and connect users about critical resources, innovations in research, standards of care as well as best practices in treating rare diseases and disorders. Creating a community filled with medical professionals, policy advocates, researchers and parents catalyzes a free exchange of information, increasing the general knowledge quotient of every stakeholder. The goal is to supply real resources and connections for those who are in the care of children living with rare diseases and disorders, and help each family not feel isolated in their struggles to care, treat and advocate for these sick children.

“It’s so critical for families and caregivers to have a knowledge bank like RareSpace to draw from,” says Devon Watts, community manager at Medpedia.com. “We are excited that Medpedia.com is a part of connecting a community and granting an open space for dialogue and education. It’s the widespread sharing of information that will benefit patients most.”

Different from other community sites, one key advantage of RareSpace is that people can share documents and resources very easily. Discussions of genetics and genetic diseases in general happen on RareSpace, with the understanding that research on all these diseases could lead to cures for other genetic disorders as well. Articles on translational research and discussions of possible cures for diseases can be found on RareSpace. A major benefit is that medical professionals will answer questions posed by site users about treatment, best practices and how to best help these children and their families. Users will create profiles and have the opportunity to upload documents and links and connect with other users all within the RareSpace portal. In addition to connecting within RareSpace, users will have the ability to create disease specific groups that can all be linked with RareSpace. This robust platform provides numerous ways to share critical information and knowledge across the rare disease community, which can be done in a safe environment that includes representation from all of the key stakeholders involved in rare disease.

R.A.R.E. Project’s, Jonathan Jacoby to present at FDA Hearing on Rare Disease

On Tuesday, June 29, 2010, and Wednesday, June 30, 2010, FDA’s Office of Orphan Products Development will host a two-day public hearing and Webcast on the Development of Articles for Rare Diseases.

This public hearing is intended to gain from health care providers, academia, industry, patients, and other interested persons their perspectives on various aspects of the development of medical products for the diagnosis, treatment, or management of rare diseases. The input from this public hearing will help inform the work of FDA’s committee for rare diseases

Jonathan Jacoby, CEO R.A.R.E Project will present case studies on therapeutic candidate generation, focusing on;

• Challenges of patient-driven R&D
• Challenges and successes with biomarker identification
• Experience with Orphan Drug Designations
• Individual investigator INDs and IND exemptions
• NIH clinical trials
• Barriers to recruitment and participation in CTs

Following the presentation, Jacoby will provide recommendations that include the importance of very small CTs as a pathway to regulatory approval. Jacoby will present this testimony from 11:40 – 12:00, June 29, 2010.

The meeting will be webcasted and any interested persons are encouraged to join:

• Dates: June 29-30, 2010
• Time: 9:00 AM to 5:00 PM ET
• Webcast addresses (will be active at the time of webcast):
  June 29 – collaboration.fda.gov
  June 30 – collaboration.fda.gov

Update: Orphan Drug Application (hydroxy propel beta cyclodextrin) by Chris Hempel

A Rare Disease Champion at the helm!

When I met Francis Collins for the first time, I remember thinking that he deserved a Nobel Prize — not because he decoded the human genome but because he understood what science is really about! I had told Collins, who was then Director of the National Human Genome Research Institute, about the SOAR project, started by the Hide & Seek Foundation for Lysosomal Disease Research, which seeks to accelerate the development of therapies for Niemann-Pick Type C and other lysosomal disorders. He enthusiastically supported the concept and promised to help in whatever way he could.

In 2002, Collins had recruited Chris Austin to head of the National Chemical Genomics Center, which conducts high throughput screens on drugs and dramatically cuts the time needed to identify possible therapies. Austin was the one who introduced me to Collins and he has collaborated extensively with SOAR researchers in order to identify potential therapies for NPC.

Collins is now the Director of NIH. One might have expected the head of the world’s greatest scientific institution to talk about the importance of solving the mysteries of basic science. Collins will no doubt make sure that NIH continues to do just that. But in his first interview before addressing NIH employees on August 17 (link to http://news.yahoo.com/s/ap/20090817/ap_on_re_us/us_nih_chief), Collins made a point of emphasizing the priority he has given to transforming scientific discoveries into drugs that might treat rare or neglected diseases. Indeed, Congress has allocated $24 million in the fiscal 2009 dedicated $24 million to establish the Therapeutics for Rare and Neglected Diseases (TRND) program and speed the development of new drugs for rare and neglected diseases. Not surprisingly, TRND will operate out of Chris Austin’s National Chemical Genomics Center.

For more on the National Chemical Genomics Center see: http://www.ncgc.nih.gov/

For more on TRND, see: http://www.genome.gov/27531962

For more on the NIH Office of Rare Disease Research, which oversees TRND, see: http://www.rarediseases.info.nih.gov/

~ Jonathan Jacoby
The RARE Project
jonathanj@theprojectcharity.org

California Health Care Budget Crisis Threatens Life of Child Dying From Rare Disease

LOS ANGELES, California (CNN) — Anthony and Lisa Leoni have little time to worry about whether California’s budget crisis will affect their daughter’s life-sustaining care.

A steady stream of nurses, caregivers and therapists visit 12-year-old Jessica at home around the clock. Jessica suffers from a rare and fatal disease called Niemann Pick Type C. A cholesterol imbalance destroys healthy cells in the liver, spleen and brain.

Although Jessica led a relatively normal life before the illness worsened, her mother always knew the disease would eventually take over.

“Jessica was playful, happy and loves people. My heart was always a flutter because you never knew how many moments you’d get,” Lisa Leoni says.

In Jessica’s case, a grand mal seizure suffered Memorial Day weekend 2005 brought a world of hurt to the Leonis.

At the height of her symptoms, Jessica suffered up to 60 seizures a day. The disease, also known as NPC, has stolen her ability to walk, talk, eat or even breathe on her own. An oxygen machine pumps air into her lungs around the clock.

Anthony Leoni knew they needed help.

“If you told us 10 years ago this is how your life is going to be, I would have said we’re not capable. We don’t have the training, ability, we don’t have the energy, we don’t have the stamina.”

They found Bill Feeman of Westside Regional Center.

“When you walk into this home and you see Jessica, [you] just fall in love with her,” Feeman says. “She is a sweet soul — you see her, she’s physically helpless, yet there’s a light that shines out of her eyes, it takes you in.

“When you meet this family and you see how hard-working and involved they are, you just wanna do everything you can to help.”

Feeman worked to find in-home support in the form of nurse caregivers, therapists and medical supplies.

“This family also has all the normal responsibilities of raising a family. They have to pay their mortgage, they have to feed their family, they have to go to work. So when you have someone as medically involved as Jessica is, and you’re talking about all that worriment and responsibility of your child being ill and on top of that you still have to … bring home a paycheck every week in order to pay your bills, you need a lot of help.

“You have to be awake at night with Jessica. She cannot be left alone for even five minutes where someone is not awake and attentive to her needs. So you’re looking at a family, who when I first met them a year ago had some help in the home but nowhere near enough and they were exhausted. They were trying to be caregivers, nurses, doctors, and then get up and go to work during the day and still support their family.”

“We pieced all these programs together. We finally got everything in place where they can be parents again, which is a wonderful thing. And that’s what scares me about these budget cuts … it scares me a little bit that things might start moving backwards.”

One of those caregivers is Carmen Bailey, a certified nurse assistant and home health aide with Caring Connection. She has been working with Jessica for more than two years.

“It’s been an experience. I call her my angel. I bathe her, groom her, position her, massage her to make her comfortable.”

Carmen may be affected by the budget cuts.

“I also have to live to keep on going. I know I will still be here and whatever I need to do extra I’m willing to do it for the family and Jessica.”

Westside Regional Center is one of 21 state regional centers providing services literally from birth to death.

They work with people diagnosed as developmentally disabled, including those with cerebral palsy, epilepsy, autism and mental retardation.

Mike Danneker is executive director of Westside Regional Center.

“Our budget is in the 4 billion dollar range for about 240,000 clients in California,” Danneker says. “Westside gets about 140 million dollars a year and we have about 7200 clients.”

He believes the California budget fix will cut a half-billion dollars statewide from their budget.

“It’s going to affect everybody. Camps, therapies like art, horseback riding, some of the things people have done for decades will be gone. We’ll have to cut back the number of hours to about 300 hours a year. We estimate 40 percent of California clients have over 300 hours a year.”

Anthony Leoni has this to say about impending cuts to Jessica’s life-sustaining care.

“It’s absolutely frightening to think about what happens if the services go away. They’re absolutely essential to keep Jessica going.”

Jessica’s childhood friend Kristina Carmickle stands by her bedside.

“We did a lot of tap (dance) together, that was Jessie’s favorite. Once you have a friendship that’s big enough, you’re always wishing for the best.”

Saving Joseph

Our 4 year old son Joseph Colton has Niemann-Pick disease type A/B.   The Niemann-Pick (NP) diseases belong to a family of 40+ inherited disorders identified as lysosomal storage diseases or LSDs.  There are two distinct sub-families of Niemann Pick diseases.  NPA and NPB diseases are caused by defects in the acid sphingomyelinase gene (ASM) on Chromosome 11.   On the other hand, Niemann Pick Type C (NPC) is caused by defects on an entirely different gene (Chromosome 18) that is involved in cholesterol metabolism.  As lysosomal storage disorders, they share some similar features such as enlarged liver and spleen.

As is typical for NPA/B disease, Joseph has splenomegaly (enlargement of the spleen) and hepatomegaly (enlargement of the liver) and his lungs are also affected. We are not sure how impacted Joseph is neurologically. He is behind in most areas, but that may be due, in part, to him not walking around exploring and playing with other kids.

In some areas, Joseph seems to be progressing at a slow pace and his walking recently stopped. We are very concerned this might be the start of a gradual regression and loss of skills. We are looking at all possible treatments for Joseph. In June 2009, we visited researchers at Mt. Sinai who are testing an enzyme developed by Genzyme and just completed phase 1.

Dr. Melissa Wasserstien and Dr. Margaret McGovern are extremely knowledgeable researchers of Niemann-Pick types A and B and I would recommend anyone who has this disease to visit them at Mt. Sinai in New York. We are desperately trying to get access to the enzyme they have developed with Genzyme but are not having much luck. We have also recently looked into bone marrow transplant.

Here is a summary of the treatment approaches we have and are considering for our son. We are hoping the information we’ve gathered will help other parents in a similar situation as ours.

Bone Marrow Transplant
It appears we are too late for bone marrow transplant since Joseph’s liver, lungs, and kidneys need to all be in good shape and Joseph’s liver function is poor. Also, bone marrow transplant would likely not help neurological function and would exclude us from clinical trials like the enzyme replacement therapy Genzyme is working on. It seems very few lysosomal disease patients could benefit from this approach because any severe case would have neurological issues and any non-severe case would probably not want to risk the procedure since there is a high risk of death from the transplant itself. I was told that if you get the transplant within 3 months, the neurological issues may be fixed, so parents who have prenatal testing have a shot at overcoming the disease with immediate bone marrow transplant.

Enzyme Replacement Therapy (Genzyme)
Enzyme Replacement Therapy is very promising approach and just finished phase 1 of a clinical trial at Genzyme. However, the rhASM drug was only given to adults in phase 1 and we are not optimistic that children will be allowed into phase 2. This is extremely frustrating and we are disappointed that Genzyme has not granted emergency access to anyone given that Enzyme Replacement Therapy has worked for decades in other similar diseases (such a Gaucher’s) and the eleven patients in phase 1 had only minor issues. The phase 1 results are encouraging to us since we were previously told the first dose of the enzyme is the most difficult since it releases a lot of sphingomyelin into the body at once. We know Joseph does not have a lot of time and waiting for this drug to go through years of testing seems crazy (it will be over 3 years between phase 1 and phase 2 start dates!!!). We hope Genzyme reconsiders our request allowing severe and desperate patients with no other options access to this drug as soon as possible.

Pectin, Zinc, and Calcium Channel Blockers
There is some evidence that compounds like pectin, zinc, and calcium channel blockers  may remove significant amounts of sphingolmyelin from cells. Such approaches  are already approved drugs or simply supplements. A friend and parent of a Niemann-Pick type A/B 3 year old girl has researched these and other possible approaches.  We are currently looking into setting-up a Virtual BioTech to test these approaches similar to what parents have done in the Niemann Pick Type C disease community.  We would like to see if there is interest with other NPA or NPB parents in setting-up a Virtual BioTech funded mostly by private donations.  This is one of our only options at this point to try and save Joseph’s life and other children afflicted with this rare disease.  Please contact our family if you are interested.

Jim Colton
561-687-2514
Emails:
jcolton@minitab.com
kara@ruppertconstruction.com

A Mom Brokers Treatment For Her Twins’ Rare and Fatal Illness

Bucking Scientific Convention, Ms. Hempel Gets Researchers From Different Fields to Share Data on Potential Therapy
By AMY DOCKSER MARCUS – April 3, 2009

F rom the moment her twin daughters, Addison and Cassidy, were diagnosed with a fatal genetic disease in October 2007, Chris Hempel has been searching for a drug that might save their lives.

The 5-year-old girls were diagnosed with a devastating cholesterol metabolism disorder known as Niemann-Pick Type C, which is ultimately fatal. Soon after, Ms. Hempel learned that researchers found that a form of a compound called cyclodextrin extended the lives of affected mice.

Ms. Hempel set out to gather as much data as possible. She got a list of all major cyclodextrin distributors and connected with one in Florida, who shared scientific studies and other information with her. She found a short report in the medical literature about a doctor who had treated a child with a different disease using cyclodextrin and tracked him down. She became increasingly hopeful that, although cyclodextrin isn’t approved as a drug in the U.S., she might get the Food and Drug Administration to allow her to give cyclodextrin infusions to her girls as an experimental treatment.

Her search for information also led her to James Hildreth, 52, a pre-eminent AIDS researcher who heads the Center for AIDS Health Disparities Research at Meharry Medical College in Nashville, Tenn. It turned out that he too was seeking FDA approval to run a trial using cyclodextrin, in a vaginal cream to help prevent HIV transmission during heterosexual sex. Ms. Hempel wanted him to combine forces with the NP-C investigators to push forward cyclodextrin research.

That was only the beginning of Ms. Hempel’s long journey through the health-care research community — a distributed and labyrinthine collection of researchers who, for all their expertise, often remain unaware of advances made elsewhere. The problem is even more acute among researchers working on different diseases. But for some serendipity, curiosity — or, in this case, a willful Ms. Hempel — some knowledge in one lab may never make its way to another that could be on the verge of a new therapy.

Drugs approved for one disease often turn out to be effective in others — frequently when someone has a hunch. Thalidomide, originally used for morning sickness but taken off the market because it caused birth defects, is being used in cancer treatment.

Researchers at Pfizer were developing Viagra to treat high blood pressure when they noticed during early tests that it treated impotence. But that happened within the same company. It is even more difficult when researchers are at different labs.

When Ms. Hempel, who lives in Reno, Nev., became passionate about Dr. Hildreth’s work, she was determined to bridge the disparate knowledge. “Right now we have limited data on cyclodextrin. But what if a lot of people started looking at it from different angles and across different diseases?” Ms. Hempel said. “It could lead to something that helps save Addi and Cassi’s lives.”

Ms. Hempel had been researching cyclodextrin for months when she attended the June 2008 meeting in Tucson, Ariz., of the Ara Parseghian Medical Research Foundation, set up by the family of the legendary football coach who lost three grandchildren to NP-C disease. The foundation was providing some funding for cyclodextrin studies in the rare disease, and the latest data were presented there. In an email sent after the meeting, Ms. Hempel wrote to the NP-C researchers that, based on the data she heard, she and her husband, Hugh, planned to seek FDA approval to give the girls cyclodextrin infusions. “I feel very strongly that we must try this to help save Addi and Cassi from this horrible disease,” she wrote.

She had already put together a three-inch binder of research studies about cyclodextrin. Working with three other families whose children have NP-C disease, they hired a scientist who began writing a request to the FDA for the Hempel children to receive cyclodextrin infusions. But Ms. Hempel knew that she needed more human data if she was going to persuade the FDA that the drug was safe enough to use in her children.

While searching for safety data on cyclodextrin, she spoke with Charles E. Strattan, a cyclodextrin expert and CEO of CTD Holdings Inc., who was helping Ms. Hempel do research. He told her Dr. Hildreth was interested in the same compound for his work in HIV and suggested that the two of them talk.

During a long phone conversation in October 2008, Dr. Hildreth told Ms. Hempel that he believed the protein responsible for NP-C disease also plays an important role in HIV. And in previously published work, he showed that cyclodextrin appeared to inactivate the HIV virus and prevent it from replicating.

The talk galvanized Ms. Hempel. Dr. Hildreth offered to share what he knew about cyclodextrin’s safety with the FDA in support of the Hempels’ request. Ms. Hempel proposed that the two of them go to Johnson & Johnson, which had studied cyclodextrin, to see if the company would be interested in sponsoring a clinical trial. “I knew our stories would be even more powerful if we told them together,” she said.

As is typical in the field, Dr. Hildreth was reluctant to share unpublished data, and he rarely went to scientific meetings that weren’t related to HIV. He was moved by Ms. Hempel’s efforts to help her children, but also surprised by her embrace of his work. “Some of the things we as scientists take for granted about how work will be done and the fact there are silos, with her there is none of that at all,” he said.

When Ms. Hempel called a top National Institutes of Health AIDS researcher to tell him about Dr. Hildreth’s findings and propose joint work in HIV and NP-C disease, Dr. Hildreth told her that a scientist never would have made such a call. In recent months, Ms. Hempel has introduced Dr. Hildreth to NP-C researchers who were also studying cyclodextrin. She also arranged for him to discuss his HIV findings with two Nobel Prize-winning scientists interested in Niemann-Pick proteins. “Our paths would not have crossed otherwise,” he said.

He and Ms. Hempel recently had a conversation with senior officials at Johnson & Johnson. The FDA at first turned down the Hempels’ request to do cyclodextrin infusions in the girls, concerned there wasn’t enough human safety data. But after Ms. Hempel contacted them about her plight, the company wrote a letter to the FDA giving the agency permission to look at all of the safety data it had submitted related to cyclodextrin. The FDA subsequently gave permission for the Hempels to proceed. The girls will start cyclodextrin infusions this month.

That might have been the end of the story except for Ms. Hempel’s insistence that more was at stake, says Steven A. Silber, a vice president at Johnson & Johnson. After listening to Ms. Hempel and Dr. Hildreth’s presentation, Dr. Silber set up a meeting so Dr. Hildreth can present his data to the head of one of its companies that makes anti-viral medications. Dr. Hildreth says that Ms. Hempel’s involvement got his research “the attention of individuals higher up in the organization than I might have been able to get on my own.”

This May, the Parseghian Foundation will host its annual scientific meeting. The group plans to hold a special session dedicated to the work on cyclodextrin. Cindy Parseghian, president of the foundation, says she hopes researchers working with cyclodextrin in other diseases will also attend. “We think there should be more cross-fertilization,” she said. Dr. Hildreth says he plans to share his findings at the meeting.

Dr. Hildreth recognizes that his unusual partnership with Ms. Hempel also has some risks for the HIV trial he is planning. “It is a remote possibility, but is a possibility, that if her beautiful girls are done some harm by the infusions, that would clearly do harm to our efforts,” he said. Still, he adds, “I spent a lot of time thinking about what I would do if I were in her position. My answer is I would do exactly the same thing.”

Late last month, the Hempel girls underwent surgery at a California hospital to get a small medical device implanted under their skin to make it easier to receive regular cyclodextrin infusions. Dr. Hildreth visited them in the hospital.

Collaboration is key in rare disease research!

KTVU-TV 2, the leading evening news in the San Francisco Bay Area, today reported on Addi and Cassi Hempel, identical twins affected by a rare disease called Niemann-Pick Type C (NPC). NPC is fatal and degenerative cholesterol disease that is often called the “childhood Alzheimer’s.”  What is most interesting about this story is that Dr. James Hildreth, one of the world’s leading HIV/AIDS researchers has discovered a link between the Niemann Pick Type C gene and the HIV/AIDS viruses ability to replicate in the human body.

Please join us at www.theprojectcharity.org to learn more about this important collaboration and to stay abreast of Addi and Cassi Hempel’s incredible story. It is remarkable that a rare disease, in this case Niemann Pick Type C, could be the  key clue to help find treatments for a more common disease that impacts millions of people worldwide.  Watch the video here on the KTVU-TV 2 website.