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Pachyonychia Congenitia Project

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Events

2023 IPCC Symposium at ISID

May 12, 2023 by Pachyonychia

With excellent presentations, a room packed with researchers, and many more standing in the back, our annual meeting of scientific collaboration to advance research and drug development for those who suffer from PC exceeded our expectations!

Date: May 10th, 2023
Time: 8:00 am to 1:00 pm, Tokyo, Japan
Location: Takao Room (42nd Floor) at the Keio Plaza Hotel Tokyo, Japan

The meeting was held in person in conjunction with the First International Societies for Investigative Dermatology (ISID) Meeting in Japan.

All researchers, clinicians, and industry representatives interested in PC (and other rare conditions with painful PPK) were invited to join at no cost.

For symposium attendees, PC Project hosted a traditional Japanese dinner Tuesday, May 9th (the night before the meeting) at 6:00pm JST at Koshitsu Izakaya Banya Nishi Shinjuku, 2-6-1 Nishi Shinjuku, Sjinjuku Sumitomo Bldg. 49 Floor, Shinjuku, Tokyo 163-0249. It was a lovely evening with good company, good food, and a spectacular view.

Click here for the program book in pdf format. Below were the featured speakers for this meeting:

8:00 AM
PC Project Update
Janice Schwartz, BA
Executive Director, Pachyonychia Congenita Project
蕾 Tsubomi (Pathogenesis session)
Chair: Edel O’Toole, MD, PhD, FRCP
Professor of Molecular Dermatology, Centre for Cell Biology and Cutaneous Research, Blizard Institute, Queen Mary University of London and Consultant Dermatologist, Royal London Hospital
8:10 AM
Palmoplantar keratodermas in 5 steps
Eli Sprecher, MD, PhD, MBH
Chair, Division of Dermatology, Deputy Director General for R&D and Innovation, Tel Aviv Sourasky Medical Center, Frederick Reiss Professor of Dermatology and Vice Dean for Clinical Affairs, Faculty of Medicine, Tel Aviv University. Tel Aviv, Israel; IPCC Chair
8:30 AM
Effects of keratin gene loss on epidermal keratinization programs
Leopold Eckhart, PhD
Associate Professor, Department of Dermatology, Medical University of Vienna, Vienna, Austria
8:45 AM
Experience with autograft therapy using revertant keratinocytes in severe recessive epidermolysis bullosa
Akiharu Kubo, MD, PhD
Professor, Division of Dermatology Department of Internal Related Kobe University Graduate School of Medicine
9:00 AM
Neuronal control of sweat gland stem cells in the palmoplantar skin
Catherine Pei-ju Lu, PhD
Assistant Professor, Hansjӧrg Wyss Department of Plastic Surgery, New York University Grossman School of Medicine
9:15 AM
Molecular mechanisms of intermediate filament tetramerization
Christopher G. Bunick, MD, PhD
Associate Professor of Dermatology Program in Translational Biomedicine, Yale University
9:30 AM
Connecting Skin Inflammation and Morphogenesis through Desmosomes
Kathleen J. Green, PhD
Joseph L. Mayberry Professor, Departments of Pathology and Dermatology, Northwestern University Feinberg School of Medicine
9:45 AM
Pachyonychia congenita keratin isoforms modulate motility signals during wound healing
Benjamin A. Nanes, MD, PhD
Instructor of Dermatology, University of Texas Southwestern Medical Center
10:00 AMBREAK – Group Photo
開花 Kaika (Therapies session)
Chair: Roger Kaspar, PhD
CSO and founder of Ayni Therapeutics
10:15 AM
Towards an in vitro model of Pachyonychia Congenita
Laura Ramos, PhD
Postdoctoral Researcher, Blizard Institute, Queen Mary University of London, UK
10:25 AM
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Innovations in CRISPR gene editing for epidermolysis bullosa
Joanna Jacków, PhD
Lecturer in Molecular Dermatology and Therapeutics, St. John’s Institute of Dermatology, School of Basic and Medical Biosciences, Faculty of Life Sciences and Medicine, King’s College London
10:40 AM
Personalized preclinical gene editing protocols for in vivo correction of pachyonychia congenita
Marta Garcia Diez, PhD
Bioengineering Department, Universidad Carlos III de Madrid (UC3M);  Biomedical Innovation Unit, Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT); Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER-ISCIII); Instituto de Investigación Sanitaria Fundación Jiménez Díaz (IIS-FJD), Madrid, Spain
10:55 AM
Gene therapy for Epidermolysis Bullosa
M. Peter Marinkovich, MD
Associate Professor Stanford University
11:10 AMBREAK
満開 Mankai (Clinical insights and disease modeling session)
Chair: Alain Hovnanian, MD, PhD
INSERM UMR1163, Imagine Institute, Department of Genetics, Necker hospital for sick children, Paris University, Paris, France
11:25 AM

Mouse models for Pachyonychia Congenita
Pierre A. Coulombe, PhD & Amanda Orosco, PhD Candidate
G. Carl Huber Professor and Chair, Department of Cell and Developmental Biology, University of Michigan Medical School
11:40 AM
Lessons learned from pachyonychia congenita may provide clues to the pathogenesis of hidradenitis suppurativa
Michelle Lynn Kerns, MD, MS
Assistant Professor of Dermatology at Cleveland Clinic
11:55 AM

Erythromelalgia: A newly identified feature of pachyonychia congenita
Rebecca McCarthy, BMBS (Hons), BSc (Hons)
Clinical Fellow for Professor Edel O’Toole, Blizard Institute, Queen Mary University of London
12:05 PM
Palmoplantar keratoderma’s in the Netherlands, a continued learning experience
Antoni Gostynski, MD, PhD
Dermatologist, Maastricht University Medical Center
12:20 PM
Complicated genetic background of palmoplantar keratoderma in Japanese: A heterozygous SERPINB7 variant is a possible modifying factor for clinical features.
Masashi Akiyama, MD, PhD
Vice Dean, Nagoya University Graduate School of Medicine, Nagoya, Japan, Professor and Chairman, Department of Dermatology
12:35 PM
花吹雪 Hanafubuki – Renewed commitment and a brighter future for patients!
Lunch & Symposium Adjourns
1:15PM
PC Project’s Medical and Scientific Advisory Board Meeting
By Invitation Only

Filed Under: Events, IPCC Research Symposium, Upcoming Events

Special PPK Session at AAD Featuring PC Dermatologists

December 20, 2022 by Pachyonychia

At the 2023 American Academy of Dermatology (AAD) Association Annual Meeting, PC and other painful conditions with PPK were featured in a special focus session “Palmoplantar keratoderma (PPK): step by step” on Saturday, March 18, 2023.

We are thankful for all our dermatologist friends, old and new, who attended. We passed out PC brochures and Utah truffles to all attendees to share a little love from the home state of PC Project.

Most of all, we were thrilled that PPKs had a place on such a prestigious program. To our knowledge, this is the first PPK session ever at the AAD. We hope it was just the first of many more in the years to come. Many thanks to our session director, Professor Eli Sprecher who is the chair of the International PC Consortium, for organizing the session, along with members of our PC Steering and Genetics Committees, Professors Edel O’Toole and Alain Hovnanian, for presenting.

Joyce Teng, Alain Hovnanian, Eli Sprecher, Edel O’Toole, Janice Schwartz

Program Details
U052 Palmoplantar keratoderma: step by step

Date: Saturday, March 18, 2023
Time: 4:30 PM to 5:30 PM Central Time

Learning objectives

  1. Recognize the major pathways connecting the pathogenesis of palmoplantar keratodermas to their clinical manifestations.
  2. Diagnose inherited palmoplantar keratodermas through practical clinical algorithms.
  3. Treat inherited palmoplantar keratodermas using traditional as well as novel targeted approaches.

Session description The last 10 years have witnessed dramatic advances in our understanding of inherited palmoplantar keratodermas. Recent observations suggest that these disorders may be more frequently encountered in our daily practice than previously thought. This session will provide attendees with an overview of our current understanding of the clinical spectrum and pathogenesis of the inherited palmoplantar keratodermas as well as a practical approach to their diagnosis and treatment. This session is intended for general and pediatric dermatologists.

4:30-4:45 PM: Understanding palmoplantar keratodermas (pathogenesis)
Eli Sprecher, MD, PhD

Eli Sprecher received his MD and PhD degrees from the Hebrew University of Jerusalem and specialized in dermatology at the Rambam Medical Center, Haifa. He spent a post-doctoral fellowship at Thomas Jefferson University, Philadelphia. He became Chair of the Department of Dermatology at the Tel Aviv Medical center in 2008, Professor of Dermatology at the Sackler Faculty of Medicine, Tel Aviv University in 2010 where he also received the Frederick Reiss chair of Dermatology in 2014. He also served as Deputy Director General for Patient Safety till 2019 and is now Deputy Director General for Research and Development at the Tel Aviv medical center. He has co-authored over 300 scientific publications, has mentored over 40 students and has received numerous national and international prizes and honors. His research focuses on the genetic basis of skin diseases. His group aims at understanding the molecular genetics of both simple and complex traits, deciphering their pathogenesis and then attempting at translating this new knowledge into innovative therapeutic tools.

4:45-5:00 PM: Diagnosing palmoplantar keratodermas (clinical features, diagnostic algorithms)
Edel O’Toole MD, PhD, FRCPI, FRCP

Edel O’Toole is a clinical academic and Centre Lead of the Centre for Cell Biology and Cutaneous Research, Blizard Institute, Barts and the London School of Medicine and Dentistry with an active research group working on rare and common genetic skin disease biology and is also an honorary consultant dermatologist at the Royal London Hospital, Barts Health NHS Trust. She trained in Medicine at University College, Galway, Ireland, followed by general medical and dermatology training in Dublin and London. She was a Dermatology Foundation followed by a Howard Hughes Medical Institute Post-Doctoral Fellow with David Woodley at Northwestern University in Chicago from 1994-1998. Her specialist clinical interests are ichthyosis and palmoplantar keratodermas. She is the current clinical lead for the British Association of Dermatologists Dermatology and Genetic Medicine network. She is Chair of the Medical Advisory Board of the Ichthyosis Support Group, is on the steering committee of Pachyonychia Project and is actively involved in 100K Genomes, a gene discovery project within the NHS. She is on the board of the ESDR.

5:00-5:15 PM: Treating palmoplantar keratodermas (traditional and novel therapies)
Alain Hovnanian, MD, PhD

Alain Hovnanian, M.D, Ph.D, obtained his medical degree at University of Paris and trained in Dermatology and in Genetics in Paris. From 1993-2000, he did his post-doctoral fellowship at the Wellcome Trust Centre for Human Genetics at the University of Oxford, UK where he acquired experience in positional cloning of disease genes. He identified in particular the genes for recessive dystrophic epidermolysis bullosa, Darier disease and Netherton syndrome.  He is now Professor of Genetics at the University of Paris and Director of an INSERM research laboratory on genetic skin diseases at the Imagine Institute for genetic diseases. His research interests include epidermolysis bullosa, Netherton syndrome and palmoplantar keratoderma with a specific focus on Pachyonychia congenita (PC) and Olmsted syndrome (OS). In 2021, he was awarded the “Eurordis Black Pearl Award” for rare diseases. He is a member of the scientific advisory board and Genetics team of Pachyonychia Project. He recently identified a new gene for Olmsted syndrome, described EGFR hyperactivation in PC and showed that the oral EGFR inhibitor Erlotinib was an effective treatment for OS and PC patients.

5:15-5:25 PM: Living with palmoplantar keratoderma
Janice Schwartz, BA

Janice Schwartz earned a Bachelor’s degree in Communications with an emphasis in advertising from Brigham Young University. She has been associated with Pachyonychia Congenita Project since it was established. Born with a spontaneous case of PC, she was given a clinical diagnosis early in life, but it wasn’t until 2004 that she received a genetic confirmation of her KRT6A mutation. She has served on the PC Board of Trustees and as a PC Advocate, particularly helping and encouraging parents of children born with PC. She has planned and lead discussions at patient support meetings throughout the world and especially enjoys teaching children and teenagers with PC about their disorder and how to successfully deal with PC in daily life. She currently leads PC Project as a volunteer executive director. Janice lives in Salt Lake City, Utah with her husband and has four children, two of whom have PC.

5:25-5:30 PM: Q&As

Filed Under: Events, Upcoming Events

2023 New Orleans Patient Support Meeting

November 9, 2022 by Pachyonychia

March 15-17, 2023
Hilton Garden Inn New Orleans Convention Center

PC patients and their loved ones, along with PC scientists and doctors gathered for the first in person Patient Support Meeting since 2019. (Our last scheduled meeting was cancelled in 2020 due to Covid-19.)

Our meeting theme was “Lucky Us!” Living with PC may not feel very lucky, especially when days are filled with pain, limitations, misunderstanding, and even embarrassment. But this year, and partly because our Patient Support Meeting overlapped with St. Patrick’s Day, we chose to focus on how truly “lucky” we are.

Do you know the leaves on a four leaf clover stand for love, hope, faith and luck? In the PC community, we have an abundance of  hope, faith, and especially love. And we absolutely believe in the saying, “The harder you work, the more luck you have!”

What’s more, there are 10,000 three leaf clovers for every 1 four leaf clover, which is why they are so rare—and so valued. So for the days of the patient support meeting, we enjoyed being with a gathering of rare people who are like those four-leaf clovers— cherished and valued. We also encouraged our community to recognize the dedicated efforts of people working on our behalf to bring us luck.

Most of all, we invited all in attendance to experience the faith, hope, and love that exists in our amazing, supportive PC family so we could see how truly lucky we are!

Click here for a pdf of the program book.

We had 111 attendees (from AL, AR, CA, CO, Canada, England, FL, France, GA, IL, IN, Ireland, Israel, LA, Mexico, MN, NC, NM, NY, OH, OR, PA, Puerto Rico, RI, TN, TX, UT, WA, WI) which included 48 PCers.

This meeting was co-sponsored by PC Project and Palvella Therapeutics.

2023 PSM Slideshow shown at closing luncheon made by Michael Conneely and Robyn Hickerson

Filed Under: Events, Patient Support Meetings, Upcoming Events

2022 Virtual PC Patient Support Meeting

October 25, 2022 by Pachyonychia

STRONGER TOGETHER

Date: Saturday, November 19, 2022
Time: 8am-12pm MT (10am-2pm ET; 3pm-7pm UK time)

The PC community gathered together for a few hours of presentations, discussions, and a medical and scientific panel to answer your questions! The meeting was free and held virtually in a Zoom meeting format.

Our PSM theme was “Stronger Together.” With our community of patients, scientists, physicians, and industry representatives working together, we make a powerful team! And together, we can accomplish our mission of connecting patients, empowering research, and finding treatments and ultimately a cure for PC.

The meeting included the Wordly Translation App for Zoom as an option so participants were able to listen to and/or read the spoken words in one of 20 different languages during the meeting

If you missed the meeting you can view it above or by clicking here. Also, the following slideshow was presented during a break.

Quotes from fellow PCers who have attended past PC Patient Support Meetings.

Filed Under: Events, Past Events, Patient Support Meetings

ESDR Meeting Amsterdam

October 22, 2022 by Pachyonychia

PC Project was invited to be in a patient village and participate with the ESDR (European Society of Dermatology Research) Conference, September 28-30, 2022. Thanks to the graciousness of the ESDR leadership for the opportunity to learn, to educate others about PC, and network with additional doctors and scientist about joining the the PC fight!

We especially enjoyed attending sessions where PC Project was instrumental in research and appreciated when top researchers visited our PC display table. We also realized physicians are not always recognizing PC when they see it in the clinic, especially if their patients don’t have thickened nails. We still have much work to do and are grateful for the experts who are willing to learn from the patient experts.

ESDR 2022

Filed Under: Events, Past Events

2022 PC Leadership Planning Meeting

October 20, 2022 by Pachyonychia

Key members of PC Project Medical and Scientific Advisory Board met in Amsterdam on September 28, 2022 for a robust 6 hour strategic planning meeting, organized under the leadership of Eli Sprecher and Pierre Coulombe. The way PC Project will operate and approach PC research going forward has totally been restructured, and for the better!

We are so grateful for these professionals from all over the world who sacrifice their time and talents to be on our team. They are literally the world’s experts in our disease space and we’re only getting started!

Michael Conneely, Pierre Coulombe, Antoni Gostynski, David Hansen, Robyn Hickerson, Alain Hovnanian, Roger Kaspar, David Kelsell, Edel O’Toole, Eli Sprecher and Peter Steijlen all contributed to this effective, strategic meeting. Not all members of our PC dream team were able to attend, but we appreciate them all!

Filed Under: IPCC Research Symposium, News, Past Events

Stronger Together #GivingTuesday 2022

October 20, 2022 by Pachyonychia

Please join us for our #GivingTuesday campaign to spread awareness about PC and let others know how important this cause is to you!

Because PC is ultra-rare, we are #StrongerTogether! And since PC Project unites patients, friends, family members, physicians, researchers, and pharmaceutical partners in a global effort to find treatments and a cure, we all need to work as one.

For GivingTuesday this year, we invite you to join our team and do the following:

  1. Mark your calendar for GivingTuesday on Tuesday, November 29th.
  2. Write a short message you can share on social media, by email, in person or via mail about why you support PC Project and why finding a cure for PC is important to you. (See sample messages below.)
  3. On November 29th, post and share your message to as many social media sites and emails as you can with an invitation to your friends to raise awareness about PC and to make a gift to PC Project. (If you can post 2 or 3 times that day, you’re a rock star! You can also share other PC posts you see.)

To make this as easy as possible for you, we have included some ideas below.

Sample Messages and Graphics for your Emails or Social Media Posts

Here are some sample messages for #GivingTuesday. You can copy and paste these messages, modify them to fit your situation better, or use them as inspiration to write your own message.

Sample Message 1:

One of my favorite nonprofits to support on #GivingTuesday is PC Project. They are fighting every day to help treat PC, a very painful disease that not many people know about. Will you join me today in making a gift to help them support PC patients like me and find a cure for PC in our lifetime? Thank you! #StrongerTogether bit.ly/give2pc

Sample Message 2:

As many of you already know, I have PC, a very painful disease that makes it difficult for me to walk or stand. But you might not know that an organization called PC Project has made a huge difference in my life. They not only provide a support network for me, they are also fighting every day to develop treatments for PC, and even a cure one day. Will you join me in making a gift to them today for #GivingTuesday? Thank you! We are #StrongerTogether! bit.ly/give2pc

Sample Message 3:

Hello, friends and family! Can I ask you a favor? Would you consider supporting PC Project today for #GivingTuesday? They work hard every day to help treat PC, a very painful disease that my son has struggled with since he was a baby. We just made our donation and it would mean so much to us if you donated too. With your help, families like ours can get the support they need, and hopefully a cure one day too! Make your gift here: bit.ly/give2pc Thank you! #StrongerTogether

Images to Share with Your Message

Thank you again for helping to spread the word about PC Project on GivingTuesday!

And please remember to make your GivingTuesday gift too!

Make my gift now

If you are in the UK, you can use https://www.justgiving.com/pcproject-europe link to share and donate to support PC Project’s mission as well as claim Gift Aid.

You can also mail your donation via check or money order to:
PC Project
P.O. Box 17850
Holladay, UT 84117

Venmo @PCProject

QUESTIONS

“Should I make a gift too?”

Absolutely! Every donation matters. It also makes it easier to ask your friends to make a gift: “Join me in making a #GivingTuesday gift to PC Project.”

If for any reason you are unable to make a gift this year, we understand. We would still love you to be a part of the #StrongerTogether outreach campaign. Helping us expand our community of supporters is just as valuable.

“Can I still participate if I’m not on social media?”

Yes, you can! We recommend sending your message about why you support PC Project in an email to friends and family on the morning of November 29. And then send a short follow-up message that evening.

“What if I don’t want people to know I have PC?”

I know exactly how you feel. One of the things PC Project is fighting to change is the stigma around PC. We understand your desire to keep that part of your life private.

In your #StrongerTogether message, you can simply say this cause means a lot to your family. Or you can say someone you care about has PC. If you’re having trouble finding the words that feel right to you, please reach out. We’d be happy to help.

“Will we get a reminder on GivingTuesday?”

Yes, you will! Throughout the day, we’ll be sharing 3 stories of how we are #StrongerTogether. In addition to serving as reminders, we hope these emails inspire you to feel that you’re part of a great cause that’s making a real difference for PC patients and their families.

“Can I still participate if it is after the GivingTuesday?”

Yes, you can! Raising awareness and donations are always welcome at any time. Also, we normally count donations through the year’s end to be part of Giving Tuesday/Year End campaign.

Make my gift now

Filed Under: Past Events

2022 Amsterdam Mini PC Gathering

October 14, 2022 by Pachyonychia

Because PC Project representatives were in Amsterdam for the European Society for Dermatological Research (ESDR) Annual Meeting, they couldn’t resist the opportunity to hold a small PC Patient Meeting with local Dutch PC patients. (And some patients traveled from other countries to join, too!)

On Tuesday, September 27, 2022 from 12:30pm to 4:30pm at at the Beurs Van Berlage Conference Center, PC Project gathered with PC patients and their loved ones for a lunch and an afternoon of socializing and discussing what it’s like to deal with PC. And of course, some of the fantastic PC scientists and doctors attended, too, to answer questions, present information about PC, and show patients there are professionals who truly care about PC and PC patients!

Many patients emailed later to say how meaningful it was for them to meet others with PC and talk about living with it. One patient even mentioned that he didn’t realize how important it would be for him until he actually experienced it. Such a great day for all of us. We sure hope these meetings make life just a little bit easier for patients and their families!

Many thanks to Palvella Therapeutics for their help in co-sponsoring this special PC patient gathering!

Meeting: 2022 Amsterdam Mini PC Gathering hosted by PC Project


Date: Tuesday, September 27, 2022
Time: 12:30pm to 4:30pm


Location: Beurs Van Berlage 
Damrak 243, 1012 ZJ Amsterdam, Netherlands
Room: 1.2 Mendes de Costa camer

Filed Under: Events, Past Events, Patient Support Meetings

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PACHYONYCHIA CONGENITA PROJECT

P.O. Box 17850
Holladay, UT 84117

info@pachyonychia.org

801-987-8758

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