Our very first campaign, #FebRAREuary, was a primer on all things rare disease in India. We talked about issues with diagnosis, explained the regulatory landscape, and the need for domestic drug development in the country.
This year, we have re-focused the lens to raise awareness about the remarkable role that WOMEN play in the rare disease community- as mothers, caregivers, scientists, authors, advocates, policy makers and artists, highlighting their incredible lives. We hope that our RARE WOMEN campaign serves as a reminder of the rich and wonderful contributions made by women, and provides an impetus to support and encourage them every step of the way.
Feb 16 - NORD
Feb 15 - Abbey Meyers
Feb 13 - Justice Pratibha Singh
Feb 12 - Alpana Sharma
Feb 10 - Sirisha KV
Feb 9 - Dr. Cubells
Feb 15 - Abbey Myers 🌟 Abbey Meyers: A Trailblazer in Rare Disease Advocacy 🌟 Abbey Meyers became a pioneering force in rare disease advocacy during the 1970s when her son was diagnosed with Tourette syndrome. Motivated by a mother’s determination, she dedicated herself to seeking solutions and support.
Feb 12 - Alpana Sharma FebRAREuary spotlights a #RareMother SMA is a rare disease found in an estimated 1 in every 6,000-10,000 people. It is a progressive genetic disorder that affects the motor nerve cells in the spinal cord and leads to progressive muscle wasting (atrophy) and mobility impairment. It is the number one genetic cause of death for infants.
Feb 22 - Developments in the past year * The US FDA finalized a guidance on 26th December 2023, on drug development programs for rare diseases. It is aimed at assisting orphan drug sponsors and covers nonclinical pharmacology and toxicology, trial design and endpoint selection, the evidence standard for establishing safety and effectiveness, and drug manufacturing issues.
Feb 5 - Dr. Jennifer Doudna Dr. Jennifer Doudna and Emmanuel Charpentier won the Nobel Prize for their contributions to CRISPR-mediated genome editing, becoming only the sixth and seventh women in history to win a Nobel Prize for Chemistry. In the decade since their discovery, genome editing has become extremely commonplace around laboratories around the world and has enabled researchers to probe the functions of genes at will, pushing the field of molecular biology ahead by leaps and bounds.
Feb 7 - Dr. Kathryn Wagner The work of Dr. Wagner and her colleagues has brought new hope to people with muscular dystrophy. Dr. Wagner has shown that myostatin inhibition has improved the condition of mice with muscular dystrophy and that loss of myostatin in humans is associated with increased muscle mass.
Feb 9 - Dr. Luisa Maria Botella Cubells A recipient of the @EURORDIS Black Pearl Award, Dr. Luisa Maria Botella Cubells stands out in the rare disease community for her patient-centric approach to her work. When asked why her work is important for the rare disease community, she answers that the question should be reversed:
Feb 8 - Dr. Maya Chopra Despite cultural and economic differences, families of children with rare diagnoses want to know the same things,” she says in an interview. “What does this diagnosis mean? What is going to happen in the future? What is the pathway to treatment? Their questions drive my research.”
Feb 29 - Happy Rare Disease Day Happy Rare Disease Day to our vibrant community! We would like to thank everyone for the continued support and engagement. Our campaign this year shed light on the crucial role women have played in the Rare community, and how their strengths, as caregivers, mothers, scientists, doctors, advocates and artists have formed the backbone for tremendous progress and improvement in the community.
Feb 3 - How Women Are Impacted According to the World Health Organization, medical discrimination against women creates barriers in diagnosis and access to treatment for rare diseases. Women also bear the disproportionate brunt of caregiving for people with rare diseases.
Feb 20 - Impact of Rare Diseases on Sexual Health Sexual development is a crucial aspect of human life, but within this intricate process, there exists a category of rare diseases affecting sexual health that pose unique challenges. These infrequent and complex disorders significantly impact physical, hormonal, and reproductive aspects. Within the umbrella of rare diseases, these are even more complex, unravelling scientific, medical, and socio-psychological dimensions. This post sheds light on a few such rare diseases:
Feb 13 - Justice Pratibha Singh Justice Pratibha Singh Takes Decisive Action on Rare Diseases: • In the case of MASTER ARNESH SHAW vs UNION OF INDIA & ANR, while hearing a bunch of petitions by children with rare diseases seeking subsidized treatment due to high costs, J. Pratibha Singh’s orders lead to the creation of India’s new rare disease policy. Here are the highlights from her order.
Feb 17 - Kam Redlawsk Pt.1 Kam Redlawsk is an award-winning patient advocate, designer, artist and writer. She has designed an array of products ranging from cell phones, toys, electronics and the world’s cheapest prosthetic knee joint for under-served countries. As an advocate, Kam has been a voice for the rare disease and disabled communities for over 15 years. Kam uses her design skills and life experiences on creative projects that elevate and celebrate disability and inclusion in order to educate a society that has very little disability representation.
Feb 18 - Kam Redlawsk Pt.2 Kam shows what is possible even when all possibilities end. She helped to expand GNE Myopathy advocacy in America, and connected GNE myopathy patients worldwide, in a time when patients weren’t connected or publicly advocating for rare diseases. She raised money for GNE myopathy. Her work gives strength to those with rare diseases who may feel that all is lost.
Feb 19 - Navigating Reproductive Health Reproductive health is a fundamental aspect of a woman’s well-being, encompassing physical, mental, and social dimensions. For #rarewomen, the journey towards reproductive health is often laden with unique challenges and considerations. These issues are not discussed openly. Yet, factors like heavy menstruation, cramps or menstrual hygiene can make disabled women more dependent or sick.
Feb 16 - NORD NORD: How Patient Advocacy Organisations are Leading Efforts for Rare Diseases National Organization for Rare Disorders (NORD), is a remarkable American nonprofit dedicated to supporting those with rare conditions. Here’s a quick peek into their journey:
Feb 27 - Recap As the campaign draws to a close this year, here’s a quick recap of key takeaways from the campaign this year. Donate Now Every bit counts! Please consider donating.
Feb 9 - Dr. Luisa Maria Botella Cubells A recipient of the @EURORDIS Black Pearl Award, Dr. Luisa Maria Botella Cubells stands out in the rare disease community for her patient-centric approach to her work. When asked why her work is important for the rare disease community, she answers that the question should be reversed:
Feb 10 - Sirisha KV 🌟 Meet Sirisha KV: An Inspiring OI Warrior 🌟 Born with Osteogenesis Imperfecta (OI) also known as Brittle bone disease , a rare genetic disorder, Sirisha KV’s journey is a testament to resilience and determination. Despite facing challenges in her childhood due to a lack of proper diagnosis, she’s now a beacon of strength as an independent working woman, breaking stereotypes and barriers along the way.
Feb 26 - What do #RareWomen need? What do women in our community need? Women with rare diseases, like anyone facing a health challenge, have unique needs that often require a comprehensive and individualized approach. Here are some general considerations for supporting women with rare diseases:
Feb 6 - What is CRISPR Though many scientists consider CRISPR a breakthrough in genetics, they have also cautioned against the technology’s potentially adverse uses, such as genetic editing of fetuses, and have advised that proper safety protocols be established before its therapeutic benefit is fully explored.
Feb 1 - Women of Rare This year, #FebRAREuary spotlights women. #Rarewomen are authentic, ferocious, vulnerable, true to themselves, breaking barriers, facing struggles, unstoppable, fearful, unwavering in their spirit, unsure of themselves, charting new paths, stigmatised, determined, unconventional, courageous. #Rarewomen are of all stripes. “Rare Women” our theme for this year’s campaign, uncovers and explores the stories of women in the rare disease community, advancing the cause of rare diseases, making scientific and other breakthroughs in rare diseases. The campaign will highlight the contributions and sacrifices of women; their unique challenges and their incredible strength. Studies show that when women are empowered the entire community benefits. Join us in learning about women and rare diseases.