2024 Informa Connect Rare Disease Innovation and Partnering Summit

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The 2024 Informa Connect Rare Disease Innovation and Partnering Summit is held this year between March 19th-21st. The summit will be a space that brings together organizations focused on rare diseases and orphan drug development with patient advocates, patient support/services, market access, and technological development. The summit is an opportunity to be exposed to new information and resources, discuss important issues and their solutions, and hear from patient’s voices that are driving drug discovery in the rare disease realm. 

If you're also looking to connect with industry representatives, nonprofits, patients, and vendors, the summit will be a chance to help improve the quality of life for members in the rare disease community through education and advocacy. Held in Philadelphia, the summit will also host relevant experts and multidisciplinary stakeholders, including the FDA, Rare Revolution, Cornerstone Pharmaceuticals, and more. Key topics will be covered, including "Rapid Fire Case Studies Directly from the Thought Leaders Innovating in the Rare Disease Space" presented by Rare Genomics co- founder and Sudo BioSciences CBO Dr. Imran Barbar, and "Combatting Mental Health Challenges within Rare Disease," featuring founder and CEO of Angel Aid, Cristol Barrett O’Loughlin.

Register for the conference here: https://informaconnect.com/rare-disease-summit/pricing/

The role of the physiotherapist in diagnosing pediatric neuromuscular diseases

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The role of the physiotherapist in diagnosing pediatric neuromuscular diseases

Physical therapists, also known as “physiotherapists” and “physiatrists” in other parts of the world, are trained to assess movement and physical development starting from birth. Pediatric neurologists might respond to parents’ reports of muscle weakness, loss of coordination, and degeneration by looking at lab values and genome maps; assessments of strength and movement are not the usual areas of focus for these specialists.

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He Suffered from a Rare Cancer Before the Age of Two. What was wrong?

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He Suffered from a Rare Cancer Before the Age of Two. What was wrong?

Before the age of two, Viktor Pataki’s parents discovered there was something wrong with their son. His young life was just beginning and they were desperate for answers.

Doctors discovered that Viktor had a rare form of cancer called Langerhans Cell Histiocytosis (LCH).

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Sometimes It’s a Zebra

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Sometimes It’s a Zebra

In medical school many doctors are taught the old saying “when you hear hoof beats, think horses, not zebras”, which means that doctors should generally consider the most likely possibility first when thinking of a diagnosis.

But what do you do when it is a zebra?

What makes a disease rare? In the United States, the Orphan Drug Act defines a disease as rare if it affects fewer than 200,000 Americans or less than one in 2,000 people. A disease is considered ultra-rare if it affects less than one in 50,000 people.

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Misdiagnosed With Monkeypox: Understanding How Rare Conditions Are Presented

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Misdiagnosed With Monkeypox: Understanding How Rare Conditions Are Presented

Even the most qualified medical practitioners make mistakes when attempting to diagnose patients’ rare conditions. Therefore, the average person cannot be held to a high standard when it comes to recognizing whether someone in their lives has a rare disease. It would be nearly impossible for a layperson to identify whether someone they pass by on their daily commute has a disease, let alone a rare one.

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Madelaine and Ally's Story

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Madelaine and Ally's Story

Madelaine had a normal pregnancy and gave birth to a healthy baby named Ally in a small, less than 10,000 person town named Manitoba, Canada. Ally was Madelaine’s second daughter, with her first being her neurotypical eldest daughter, Bethany.

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Kelley and Ryan's Story

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Kelley and Ryan's Story

Kelley is the parent of Ryan, a child living with TFE3-Associated Neurodevelopmental Disorder. Ryan was the 21st patient in the world to be diagnosed with this condition. Kelley has shared Ryan's story with us and uploaded Ryan's variant to genetic databases with the hope of bringing awareness to TFE3 and the rare disease diagnostic odyssey.

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Alex and Caroline's Story

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Alex and Caroline's Story

Caroline Cheung-Yiu is the parent of a child living with a rare disease. Her son Alex is a RareWear participant who was issued a device in connection with the RareWear program which monitors vital signs. Caroline graciously shared her family’s story with us in the hope of helping others who might benefit from the RareWear program.

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Economics and Politics in Rare Disease Treatments

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Economics and Politics in Rare Disease Treatments

The cost of living with a rare disease in the United States is significantly higher than the cost of living with other types of health conditions. Findings published in a 2022 report by Chiesi Global Rare Diseases, a Boston-based business unit of Chiesi Farmaceutici S.p.A, revealed that the economic burden of a patient living with a rare disease is approximately 10 times higher than that of a patient living with a more common affliction. Chiesi states the average overall cost per rare disease patient in the U.S. is $266,000 annually, but in comparison, the average overall cost per patient living with a so-called “mass market” disease is roughly $26,000 annually.

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Remember Undiagnosed Children’s Awareness Day

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Undiagnosed Children’s Awareness Day was honored on April 30th, 2021 to increase awareness and understanding of the impact and prevalence of undiagnosed genetic conditions. SWAN UK (Syndromes Without A Name) hosted a Zoom meeting to commemorate the day and to discuss sequencing programs for undiagnosed families. Learn more about Undiagnosed Children’s Awareness Day here!

SWAN UK is the only dedicated support network available for families of children and young adults with undiagnosed genetic conditions in the UK. It is run by the charity Genetic Alliance UK. SWAN UK aims to to support those affected by undiagnosed genetic conditions by developing services and raising awareness about the unique challenges faced by affected families. More details about SWAN’s mission can be found here: https://www.undiagnosed.org.uk/

Genetic Alliance UK offers information and support to families and individuals with genetic conditions, including concerning reproductive techniques, diagnosis, medical research, healthcare and access to treatments. Genetic Alliance’s website is located here: https://geneticalliance.org.uk/.

The Rare Genomics Institute (“RG”) salutes SWAN and Genetic Alliance’s efforts to increase global recognition, provide information and support for families caring for a loved one with an undiagnosed or rare genetic condition.

Undiagnosed Children’s Awareness Day is an opportunity for RG, SWAN, Genetic Alliance and the broader rare disease community to change the global discussion about rare diseases. You can be a change agent by joining us or otherwise supporting us now.

SWAN estimates 1 in 20 children are born with a genetic disorder and that 60% may not ever receive a diagnosis. Let’s work together to change that. Join RG to help families with undiagnosed genetic conditions and stay tuned for more information on next year’s Undiagnosed Children’s Awareness Day!

Health Literacy and Rare Diseases

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Health Literacy and Rare Diseases

Have you heard of health literacy? It’s the ability to obtain, read, understand, and use health information to make decisions. A variety of skills are needed, including reading, writing, listening, speaking, understanding and working with numbers, analyzing, and communicating. Believe it or not, more than a third of U.S. adults have low health literacy.

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Rare Artist

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Rare Artist is open for submissions until October 30th, 2020. Anyone connected to the rare disease community can submit artwork; including caregivers, patients, physicians, siblings, and friends. We have three different categories dependent on age, anyone who is ages 4+ can enter. You do not need to be a professional artist or hold any sort of credentials in order to enter into the contest.

Parenting during the Pandemic: An Interview with Monica Coenraads of the Rett Syndrome Research Trust

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Parenting during the Pandemic: An Interview with Monica Coenraads of the Rett Syndrome Research Trust

Rett syndrome is a genetic brain disorder caused by mutations in the MECP2 gene. Rett typically affects females and symptoms usually become apparent between six and eighteen months after birth. Symptoms of Rett include the inability to speak, walk, or perform repetitive movements. People with Rett also frequently experience breathing problems, seizures, gastrointestinal and orthopedic issues.

Monica Coenraads is the founder and Executive Director of the Rett Syndrome Research Trust (RSRT). Monica has led RSRT to awarding $66 million in research grants, with the goal of finding a cure for Rett. More importantly, Monica is Chelsea Coenraads’ mom.


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Racial and Ethnic Inequality: A Public Health Perspective

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Racial and Ethnic Inequality: A Public Health Perspective

If you, or a loved one, are living with a rare disease, you may have gone to doctor after doctor, seeking a diagnosis. You may have spent hours, days, or weeks online, looking for answers or a glimmer of hope. You know the struggle of having a rare disease—lack of research, lack of drugs to treat your condition, and often, many unanswered questions. Now, imagine having a rare disease without access to quality healthcare or high-speed internet to conduct research at home.

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My friend chose an assisted death in Switzerland. Her dying wish was to tell you why

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My friend chose an assisted death in Switzerland. Her dying wish was to tell you why

By CNN

Shortly after 11 a.m. on December 16, 2019, Cindy Siegel Shepler drew her last breath in a spartan room in Basel, Switzerland.

The 62-year-old American twisted a knob on her IV pole and soon fell asleep for the last time.

I had stayed with her and her husband David in Knoxville, Tennessee, for their last three nights at home before they left for Basel. And I spoke to her for the last time about 12 hours before she died.

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Mike Klein of Genomenon on Rare Revolution Magazine

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Mike Klein of Genomenon on Rare Revolution Magazine

By Rare Revolution Magaziine

What would you say are some of the biggest motivators for your employees?

We were pretty fired up when Rare Genomics Institute (RGI) shared a case where an undiagnosed patient had their whole exome sequenced and analysed by a leading genetics laboratory. The lab was unable to find evidence on any clinically relevant genetic mutations that could provide a diagnosis. When Dr. Lipika Ray, a computational geneticist at RGI, re-analysed the patient’s DNA using Mastermind, she found a single research report that matched the patient’s DNA data. This finding led to the patient diagnosis and ended their long diagnostic odyssey.

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Cindy Shepler, A Tireless Advocate

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Rare Genomics Institute had the distinct privilege of working with Cindy Siegel Shepler since 2013, when our organization connected with her in the context of her advocacy for patients with Hailey-Hailey Disease (HHD). We soon discovered that Cindy was an advocate for several other health-focused organizations, and more specifically for individuals who suffered from illnesses. Although Cindy herself suffered from several debilitating illnesses, she worked tirelessly to support others who were in pain. 

In 2013, Cindy approached Rare Genomics with a proposal to test a generically available drug in patients with HHD. Although the project evolved over time, with Cindy's support Rare Genomics eventually published a review article: "Could Low-Dose Naltrexone be an Effective Treatment for Hailey-Hailey Disease?". The mini review summarized the evidence for the effectiveness of LDN for HHD patients, and led to increased awareness in the research and rare disease community. This initiative with Cindy was the inspiration for the creation of the Rare Genomic's Task Force, which aims to provide scientific information and support for patients with rare diseases where an N of 1 matters. 

Cindy was a gifted communicator, tireless advocate, brilliant connector, and an inspiration to our organization. We are grateful for our collaboration with her and join those who knew her in celebrating a life well-lived.