News
2.png)
September 30, 2024
Mouse models of both acute and chronic itch can be and have been used to preclinically define, validate, and predict therapeutic targets. Continue Reading…
5.png)
September 25, 2024
Taking care of your mental health when you have a baby in the NICU Continue Reading…
3.png)
September 24, 2024
Salicylic Acid for Heels Continue Reading…
2.png)
September 14, 2024
Update on the ASCEND study from Timber Pharmaceuticals, Inc. – a LEO Pharma company Continue Reading…
2.png)
September 10, 2024
A testimony to a Christian Community my wife and I belong to about our journey having children with Ichthyosis Continue Reading…
4.png)
September 09, 2024
The Schlitt and Goff families hosted a wonderful cornhole fundraiser in Michigan Continue Reading…
3.png)
September 03, 2024
Patients with multiple LoF mutations tend to have more severe disease but a subset of compound heterozygous patients still display mild phenotypes Continue Reading…
2.png)
August 22, 2024
Highly visible skin conditions can lead to depression and other mental health disorders. Clinicians can work together to reduce patient stress and improve quality of life. Continue Reading…
1.png)
August 22, 2024
Part 1: Foundations and Pre-Clinical Research Continue Reading…
2.png)
August 20, 2024
People with rare diseases experience higher levels of anxiety, depression, and fatigue, and decreased social engagement. Continue Reading…
3.png)
August 20, 2024
This report details the actions organizations and sectors from across the enterprise can take to create a clinical trials enterprise that is diverse, equitable, inclusive, and accessible to all. Continue Reading…
2.png)
August 20, 2024
Applying for aid through NORD's Caregiver Respite Program. Continue Reading…
3.png)
August 15, 2024
Chairman Comer detailed how the House Oversight Committee has obtained over 140,000 pages of documents and communications exposing Pharmacy Benefit Managers’ and their role in rising drug prices. Continue Reading…
2.png)
August 01, 2024
The findings imply that the loss of FAM83G-CK1a interaction and subsequent attenuation of WNT signalling underlie the pathogenesis of PPK caused by the FAM83GR265P variant. Continue Reading…
August 01, 2024
The fight against ichthyosis is not only medical but also financial. Daily treatment routines can be complicated by the ongoing costs of medical supplies and other aids. Continue Reading…
2.png)
July 29, 2024
This research enhances our understanding of the microbiological, immunological, and molecular properties of CI and should provide critical information for improving therapeutic management. Continue Reading…
2.png)
July 26, 2024
2024 Best Places to Work for Disability Inclusion Continue Reading…
3.png)
July 23, 2024
Peter Marinkovich, MD, reflects on the significant growth in advanced therapy development, particularly in rare skin diseases. Continue Reading…
July 18, 2024
The FDA reviews review medical products for rare disease patients Continue Reading…
2.png)
July 11, 2024
A company developed by FIRST member Jenna, affected with EI. Continue Reading…
2.png)
July 10, 2024
A walk through the National Conference in Albuquerque, NM Continue Reading…
2.png)
June 19, 2024
we characterize the skin microbiome from seven ichthyosis genotypes, at species, strain, and metabolic pathway levels. Continue Reading…
.png)
June 12, 2024
Transplanting healthy skin to diseased areas may be treatment option for epidermolytic ichthyosis (EI) and ichthyosis with confetti (IWC). Continue Reading…
3.png)
June 11, 2024
First large study to look at mental health problems in children with chronic skin conditions Continue Reading…
3.png)
June 06, 2024
They identified and diagnosed a novel inherited condition called Dyschromatosis, Ichthyosis, Deafness, and Atopic Disease (DIDA) syndrome. Continue Reading…
1.png)
May 16, 2024
41% of people with long-term itchiness have fatigue Continue Reading…
2.png)
May 13, 2024
Five FIRST members hiked the Grand Canyon again in 2024. Continue Reading…
1.png)
May 06, 2024
Genetic deletions in a specific region of the X chromosome (Xp22.31) can cause problems with mood and memory. Continue Reading…
6.png)
May 03, 2024
Ichthyosis info on Tik Tok from physician, and nonphysician sources (such as from patients) to guide healthcare professionals interested in leveraging this platform for public health. Continue Reading…
5.png)
April 26, 2024
Azitra announces new pre-clinical data for Netherton Syndrome Continue Reading…
2.png)
1.png)
April 24, 2024
There are a number of marketing breakthroughs for new treatments, including some available and prospective gene and cell therapies. Continue Reading…
1.png)
April 04, 2024
A love story for two with Lamellar ichthyosis Continue Reading…
.png)
April 04, 2024
Skin conditions can have a psychological impact on a child and their caregivers Continue Reading…
1.png)
2.png)
March 27, 2024
Ichthyoses are a heterogeneous group of cornification disorders. Ichthyosis Vulgaris (IV) ([OMIM] #146,700), which can be inherited as autosomal semi-dominant mutation in the filaggrin gene (FLG). Continue Reading…
3.png)
March 20, 2024
Ex vivo gene therapy is a promising approach to treat devastating skin fragility diseases. Continue Reading…
2.png)
March 14, 2024
The congenital ichthyosis session the 2024 AAD Annual Meeting covered real-world patient cases and treatments on the horizon. Continue Reading…
3.png)
March 05, 2024
Include teen patients in both the company’s open label and placebo controlled studies expected to expand the number of eligible subjects, to expedite recruitment and lead to a more robust data set Continue Reading…
1.png)
February 29, 2024
Rare diseases present a formidable global health challenge, affecting over 300 million individuals worldwide. Continue Reading…
1.png)
February 26, 2024
A study from the University of Washington (UW) indicates that the blistering and recurrent skin infections seen in patients with Darier disease may be reduced by MEK inhibitors. Continue Reading…
February 14, 2024
Camp Wonder 2024 application information Continue Reading…
2.png)
February 13, 2024
At BioCryst Pharmaceuticals, we work tirelessly, not just for, but with patient communities. Continue Reading…
February 01, 2024
Now more than ever, it is important to highlight the challenges of rare disease. Continue Reading…
2.png)
January 12, 2024
Rare disease, if a health of even one family member is affected even for normal issues, It affects the entire family? Continue Reading…
2.png)
January 05, 2024
Certain cells in the skin contain memory of particular skin conditions. Continue Reading…
2.png)
January 02, 2024
Great advances have been made in the field of heritable skin disorders using next-generation sequencing Continue Reading…
4.png)
January 02, 2024
Dr. Neal Rajan shares advice about how best to do this as a dermatologist in the NHS and encourage those of you with an interest in genetic skin diseases to get involved with some of his initiatives. Continue Reading…
3.png)
January 02, 2024
The cause of acquired ichthyosis is either unknown (idiopathic) or occurs secondary to an underlying disorder. Continue Reading…
December 13, 2023
Jennie talks about seeing her daughter's eyes for the first time. Continue Reading…
1.png)
December 12, 2023
Additional positive clinical data from its ongoing open-label study evaluating the safety and efficacy of QRX003 as a potential treatment for Netherton Syndrome (NS). Continue Reading…
November 14, 2023
FIRST attends the 2023 PeDRA Conference Continue Reading…
October 23, 2023
Thomas shares a product that has helped his skin Continue Reading…
October 02, 2023
FIRST is demanding the legal, ethical, and accurate representation of ichthyosis and related skin types. Simply put, we are demanding basic human rights for people with ichthyosis. Continue Reading…
.png)
September 29, 2023
James Ellis discusses the success he had with the Timber trial Continue Reading…
September 25, 2023
Awareness cards are a great conversation starter Continue Reading…
September 14, 2023
Schlitt's Family cornhole fundraiser and the impact it made Continue Reading…
1.png)
July 14, 2023
The provision of sufficient calories in the diet to support growth as well as extra fluid to replace skin losses can be difficult. Continue Reading…
1.png)
June 21, 2023
A rare medical diagnosis impacts mental health negatively Continue Reading…
1.png)
June 21, 2023
PSA to normalize physical differences without feeling the need to comment on them Continue Reading…
June 20, 2023
- First Presentation of Data From Phase 3 ASCEND Study Will Feature Pharmacokinetic Results That Indicate Minimal Systemic Absorption of Isotretinoin - Continue Reading…
June 06, 2023
“The Debt Ceiling Deal protects vital access to Medicaid coverage, ensuring individuals and families with rare diseases continue to have the comprehensive health care they need to survive and thrive; Continue Reading…
May 25, 2023
Health advocates from all over the world met in Miami Continue Reading…
April 11, 2023
Autosomal recessive congenital ichthyosis is a non-syndromic congenital disorder of cornification characterized by abnormal scaling of the skin. The three major phenotypes are LI, CIE and Harlequin. Continue Reading…
April 05, 2023
Our guide helps deaf and hard of hearing students learn about online accommodations colleges offer Continue Reading…
.png)
1.png)
February 21, 2023
Yale dermatologists are playing a key role in testing a new treatment for an often-disfiguring group of skin diseases that develop in children. Continue Reading…
1.png)
February 03, 2023
It’s essential for parents to talk to them about these conditions, so children can feel more empowered and secure in themselves. Continue Reading…
January 25, 2023
The ichthyosis community has gained a special angel. Continue Reading…
1.png)
December 01, 2022
PeDRA group of patient representatives and parents of children with cutaneous disease, pursued a multistep process to identify comprehensive, high-priority research needs. Continue Reading…
.png)
November 10, 2022
Contact your Members of Congress TODAY and urge them to support reforms to improve research and development for rare diseases treatments in any end-of-year spending bill Continue Reading…
1.png)
November 03, 2022
This article discusses ichthyosis and how it’s linked to cancer. The write-up also briefly explores the various cancer types that can cause ichthyosis. Continue Reading…
2.png)
November 02, 2022
patients with palmoplantar keratoderma associated with pathogenic variants in the FLG gene and as a part of ichthyosis vulgaris spectrum. Continue Reading…
1.png)
October 04, 2022
At present, there is no standard terminology for describing the spectrum of constitutive skin colours across human populations. Continue Reading…
1.png)
September 27, 2022
Christopher Boynton, along with The American Academy of Dermatology (AAD) and The Coalition of Skin Diseases (CSD) travelled to our nation's capital as a part of the AADA Legislative Conference. Continue Reading…
4.png)
September 04, 2022
Christina Raj, is a training consultant, Social Activist & Founder of CIRM India a support group for Ichthyosis in India. She was born with the rare genetic skin disorder Lamellar Ichthyosis Continue Reading…
1.png)
August 26, 2022
Designated Breakthrough Therapy TMB-001 Continue Reading…
August 25, 2022
Carleen Walsh completes her PhD and studies with the help of so many. Continue Reading…
.png)
August 09, 2022
A medical student at Rutgers is trying to build awareness of a rare genetic disorder which he has. It causes a skin disease called ichthyosis Continue Reading…
July 25, 2022
Be aware of the signs of overheating and learn how to cool off Continue Reading…
.png)
July 12, 2022
SPD’s first Hall of Fame Award during its 47th Annual Meeting in Indianapolis on Sunday, July 10 Continue Reading…
.png)
July 12, 2022
This article presents a patient perspective on the importance of having psychological support for skin conditions available in the dermatological treatment pathway in the UK. Continue Reading…
June 28, 2022
Resource for deaf and hard of hearing Continue Reading…
June 20, 2022
When a red baby is born, this should be a red flag for caretakers and professionals. A red baby is mostly in danger and needs care and a diagnosis. Continue Reading…
.png)
May 31, 2022
Phase 3 trial set to begin Continue Reading…
1.png)
May 17, 2022
A new scale for describing the range of human skin colours will help combat underrepresentation in research and replace subjective approaches for describing skin colour, say researchers. Continue Reading…
May 17, 2022
Updated terms after member feedback Continue Reading…
May 10, 2022
Body dysmorphic disorder (BDD) is characterized by perceived defects or flaws in appearance which may not be apparent to others.1 Skin diseases are singularly visible conditions2 and BDD is common. Continue Reading…
April 29, 2022
Company expects to launch pivotal Phase 3 ASCEND clinical trial to evaluate TMB-001 within the next 60 days Continue Reading…
April 25, 2022
Quoin announced it has received U.S. FDA clearance to initiate clinical testing for its Investigational New Drug application for QRX003, their investigational product for Netherton Syndrome (NS). Continue Reading…
April 11, 2022
FIRST Member Abel Borg wrote this article and this poem Continue Reading…
April 07, 2022
Self-improving congenital ichthyosis (SICI) is a subtype of ARCI and is diagnosed when skin condition improves remarkably (within years) after birth. Continue Reading…
April 07, 2022
How To Contribute To Ichthyosis Research Continue Reading…
.png)
April 07, 2022
The book was inspired by my personal experiences growing up with close friends and peers who had skin diseases, as my father was a dermatologist, and my experiences in dermatology. Continue Reading…
.png)
April 06, 2022
n the absence of useful assessment tools, healthcare professionals are unable to identify, triage or support the unmet needs of ichthyosis caregivers. Continue Reading…
April 05, 2022
Dermatologist and Psychologist Continue Reading…
March 28, 2022
Sub-analysis of the Phase 2b CONTROL study in congenital ichthyosis demonstrates treatment success with TMB-001 regardless of subtype Continue Reading…
March 28, 2022
FIRST's CEO Christopher Boynton Attends the Academy of Dermatology Meeting in Boston, Massachusetts Continue Reading…
March 25, 2022
Tips for getting through TSA with medical supplies Continue Reading…
March 25, 2022
FIRST recognizes that our members may sometimes have a tough time navigating through the emotional, psychological, and the logistical pressures of life associated with being affected with ichthyosis. Continue Reading…
2.png)
March 15, 2022
Clinical trial testing for Netherton Syndrome Continue Reading…
.png)
March 11, 2022
Technical enhancements in telemedicine Continue Reading…
March 09, 2022
Recent studies showed Th17 immune skewing, across the spectrum of ichthyos might broadly reduce disease severity. Continue Reading…
March 09, 2022
If I had only known then what I know now about myself and her and all of you I would have just whispered you’ll be ok. Continue Reading…
February 14, 2022
Timber completed the Phase 2b CONTROL study evaluating TMB-001 in moderate to severe congenital ichthyosis (CI) in September 2021 Continue Reading…
February 08, 2022
Rare Disease Month Advocacy Tools Continue Reading…
January 28, 2022
Quarterly Ichthyosis Literature Review Continue Reading…
.png)
January 27, 2022
Extend sympathy to yourself Continue Reading…
January 05, 2022
Timber set out to design our Phase 2b CONTROL study evaluating an investigational topical treatment for a rare dermatologic condition called congenital ichthyosis (CI) Continue Reading…
December 06, 2021
The holidays and stress, the effect to your skin Continue Reading…
1.png)
November 18, 2021
The paper-only tool, Dermatology Life Quality Index, has been transformed into an app to give patients and clinicians the easiest possible access to it. Continue Reading…
November 15, 2021
After the long separation due to the pandemic, FIRST members were very happy when they were once again able to connect in person. Continue Reading…
November 11, 2021
Words have the ability to make a person laugh or to fall in love. Words can hurt or heal. Continue Reading…
.png)
November 08, 2021
Bathing and Lotioning distractions Continue Reading…
1.png)
November 08, 2021
Q: Do those with ichthyosis tend to need more sleep than average? Continue Reading…
1.png)
November 04, 2021
Suggestions for IEPs and students with ichthyosis Continue Reading…
.png)
November 03, 2021
Other peoples reactions to your or your child's appearance Continue Reading…
.png)
1.png)
November 02, 2021
Ten top drugmakers are joining forces with the NIH, the FDA and other nonprofits to streamline the development of new gene therapies for those with rare diseases. Continue Reading…
.png)
November 02, 2021
Flexibility became an immediate need for sponsors, CROs, clinical sites, and patients. Continue Reading…
2.png)
November 02, 2021
Addition of Bi-Functional Protein Is Complementary to Lead Asset QRX003 for Netherton Syndrome Continue Reading…
October 26, 2021
Ichthyosis & Belly button piercing teen Continue Reading…
October 25, 2021
Anxiety and ichthyosis Continue Reading…
October 22, 2021
Ichthyosis and fever and the impact to skin Continue Reading…
October 11, 2021
Casting tips from FIRST's Private Parents group Continue Reading…
October 08, 2021
Timber announced positive top-line data from its Phase 2b CONTROL study evaluating TMB-001in patients with moderate to severe congenital ichthyosis (CI). Continue Reading…
.png)
October 04, 2021
Timber Pharmaceuticals (NYSE:TMBR) presents results from Phase 2a study Continue Reading…
.png)
October 04, 2021
Being diagnosed with a rare disorder can be frightening and lonely. Continue Reading…
October 01, 2021
Shoutout to all my fellow folks living with disabilities and invisible illnesses who can “pass” as “normal” Continue Reading…
September 23, 2021
Prolonged use of systemic retinoids was safe and effective for the treatment of patients with moderate to severe Darier disease Continue Reading…
September 23, 2021
This study may expand the genotypic and phenotypic spectrum of the disease CEDNIK syndrome Continue Reading…
September 22, 2021
Alopecia Areata discussion by FIRST MSAB member Dr. Brittany Craiglow Continue Reading…
September 08, 2021
Teens, Puberty, Skin, Supplements & Odor Continue Reading…
August 30, 2021
Giving birth while having ichthyosis Continue Reading…
August 27, 2021
resource for nurses and school educators that was developed by PeDRA Continue Reading…
August 23, 2021
Questions and Answers concerning problems with the management of eye care in those affected by ichthyosis Continue Reading…
August 16, 2021
Thoughts about staring from an experienced FIRST dad Continue Reading…
August 10, 2021
Itch tips from FIRST's private Facebook Group for parents Continue Reading…
August 06, 2021
Tamyra discusses possible treatments for her ichthyosis vulgaris Continue Reading…
July 15, 2021
Francine wrote this article for The Mighty Continue Reading…
July 15, 2021
FIRST Member Christina Raj is a finalist of The International Glamour Project Mrs. India 2020-2021 Continue Reading…
July 14, 2021
How to handle staring when your child has ichthyosis Continue Reading…
.png)
July 01, 2021
Harlequin and Arthritis by DocWire News Continue Reading…
June 28, 2021
Quarterly Literature Review FIRST's MSAB Continue Reading…
June 24, 2021
Ichthyosis and diaper rash from FIRST's private FB group Continue Reading…
June 23, 2021
Specific protein replacement therapy for CDSN deficiency Continue Reading…
June 10, 2021
You are invited to send in a photo for our upcoming children’s book on ichthyosis! Continue Reading…
June 08, 2021
Beiersdorf announces a long term partnership with The Foundation for Ichthyosis & Related Skin Types, Inc. Continue Reading…
May 27, 2021
A FIRST Adult member happened upon this combination and it worked for her, so she wants to share it. Continue Reading…
May 27, 2021
Many members have issues with the build up of grease in their washing machines due to the use of creams and lotions. Here are some solutions to help with that. Continue Reading…
May 18, 2021
FIRST and Beiersdorf are partnering to host this four session series for affected members ages 16-26. Continue Reading…
May 11, 2021
A recipient of the Diya & Aliya fund sent this note to thank the donors who fund it. Continue Reading…
May 05, 2021
Your skin is the largest organ in your body, and it’s often exposed to dangers. The sun’s rays, for example, can alter your cells and cause the development of skin cancer. Continue Reading…
April 12, 2021
Harlequin Ichthyosis & Compartment Syndrome Continue Reading…
April 12, 2021
Netherton Guidelines Continue Reading…
March 26, 2021
NORD's Advocacy Tool Kit Continue Reading…
March 24, 2021
Breastfeeding and other symptoms along with ichthyosis Continue Reading…
March 08, 2021
Mental Health and Rare Disease Continue Reading…
March 04, 2021
Ending racism in biomedical research Continue Reading…
February 26, 2021
Jordan discusses what it was like to be pregnant while also having ichthyosis. Continue Reading…
February 25, 2021
Looking back to Cash's birth story on Rare Disease Day Continue Reading…
February 24, 2021
Morgan Villano will discuss her daughter's rare condition, Lamellar Ichthyosis Continue Reading…
February 17, 2021
Tips from FIRST Members Continue Reading…
February 15, 2021
We have generated hiPSCs from patients with congenital ichthyosis, either non-syndromic autosomal recessive congenital ichthyosis (ARCI) or the ichthyosis syndrome trichothiodystrophy Continue Reading…
February 09, 2021
Gene therapies prevent, treat, and cure human diseases.Application of gene therapies for skin diseases received little attention so far, despite easy accessibility of skin and the urgent medical need. Continue Reading…
February 09, 2021
Drug discovery and biologics manufacturing is deeply technical, where one concept can snowball into various other areas of science and technology. Continue Reading…
January 26, 2021
Webinar hosted by NeedyMeds Continue Reading…
January 26, 2021
U.S based medical students with rare disease patients and families to help foster meaningful doctor-patient relationships, Continue Reading…
January 25, 2021
The clinical research community has been disrupted in a number of ways due to COVID-19 and sparked a spirit of collaboration and innovation. Continue Reading…
January 20, 2021
Getting good quality sleep, exercising, and eating more raw fruits and vegetables predicts better mental health and well-being in young adults, a study has found. Continue Reading…
January 19, 2021
The following links and resources may be useful to patients and families looking for medication assistance and financial information. Continue Reading…
January 18, 2021
Skip the products and supplements and focus on your diet to make sure your skin feels free, clear, and glowing. Continue Reading…
January 14, 2021
The elderly and people with chronic health conditions are vulnerable to loneliness, which can harm emotional and physical health. Learn how to loosen its hold. Continue Reading…
January 12, 2021
X-linked ichthyosis has a incidence of 1:2000-6000 male births and has no racial predisposition. It may be apparent at birth or in early infancy, but may not become evident until the child grows older Continue Reading…
.png)
June 12, 2020
FIRST physicians contributed to this research article. Continue Reading…
