Rare Disease – Page 9 – Patient Worthy

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Rare Community Profiles: Probably Genetic Offers No-Cost Genetic Testing for Rare Diseases: A Conversation with CEO Lukas Lange

Post author:Jessica Lynn
Post published:June 14, 2023
Post category:Rare Disease

Rare Community Profiles Rare Community Profiles is a new Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their…

Photo courtesy of Zach and Geri Landman

#HotShotChallenge: How You Can Help Cure PGAP3 One “Shot” At a Time

Post author:Jessica Lynn
Post published:June 9, 2023
Post category:Rare Disease

In August 2022, I reported on a story that touched my heart: Lucy Landman's PGAP3 diagnosis. With less than 50 diagnosed cases of PGAP3 worldwide, parents Zach and Geri jumped…

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World Orphan Drug Congress USA 2023: The Forefront of Rare Disease Drug Development

Post author:James Moore
Post published:June 7, 2023
Post category:Rare Disease

The World Orphan Drug Congress USA 2023 was held from May 23-25, 2023 at the Gaylord National Resort & Convention Center in National Harbor, MD. This conference is focused solely…

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Study of the Week: RNA Sequencing Platform Could Improve Pediatric Rare Disease Diagnosis

Post author:James Moore
Post published:June 5, 2023
Post category:Rare Disease

Welcome to Study of the Week from Patient Worthy. In this segment, we select a study we posted about from the previous week that we think is of particular interest…

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Drug Repurposing: Saving Rare Disease Patient Lives

Post author:Rose Duesterwald
Post published:June 2, 2023
Post category:Castleman Disease Castleman's disease Rare Disease

WebMD recently carried a story about a young woman who, after nine years of wheelchair confinement caused by a rare metabolic disease with no name, was able to walk…

The FDA Has Approved Ayvakit for the Treatment of Indolent Systemic Mastocytosis

Post author:Rose Duesterwald
Post published:June 2, 2023
Post category:Rare Disease

The FDA has approved the drug Ayvakit developed by the biotechnology company Blueprint Medicines for the treatment of indolent systemic mastocytosis. According to an article in BiopharmaDive, Ayvakit had been…

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Rare Community Profiles: The Cost of Preventive Care in Chronic Illness and Rare Disease—and Why We Need to Talk About It

Post author:Jessica Lynn
Post published:June 2, 2023
Post category:Rare Disease

Rare Community Profiles Rare Community Profiles is a new Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their…

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RNA Sequencing: Hope for Improved Rare Disease Diagnosis

Post author:Rose Duesterwald
Post published:June 2, 2023
Post category:Rare Disease

As clinicians and scientists continue to delve into RNA sequencing benefits, they are learning how RNA sequencing provides insights for people with rare genetic conditions. The learning experience will provide…

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RDLA Webinar: Mental Health and Rare Diseases

Post author:James Moore
Post published:June 1, 2023
Post category:Rare Disease

On May 18, 2023, the Rare Disease Legislative Advocates (RDLA) hosted its monthly webinar. These webinars help provide updates to the rare disease community on legislation and other policy initiatives…

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Rare Community Profiles: Uplifting Athletes Harnesses the Power of Sport to Benefit the Rare Disease Community

Post author:Jessica Lynn
Post published:June 1, 2023
Post category:Rare Disease

Rare Community Profiles Rare Community Profiles is a new Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their…

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Science Simplified: All About Genetic Sequencing

Post author:Patient Worthy Contributor
Post published:May 31, 2023
Post category:Rare Disease SLC13A5 deficiency

Want to learn about scientific topics without needing a PhD? Check out the Science Simplified blog from TESS Research Foundation! Dr. Tanya Brown, PhD, works with researchers to make science…

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Rare Community Profiles: “The Boy in the Blue”: An MPS and Mental Health Awareness Project

Post author:Jessica Lynn
Post published:May 30, 2023
Post category:MPS VI (Maroteaux-Lamy syndrome)Mucopolysaccharidosis Rare Disease

Rare Community Profiles Rare Community Profiles is a new Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their…

ABBV CLS 7262 is Being Evaluated as a Potential Treatment for Vanishing White Matter Disease in the Brain

Post author:Rose Duesterwald
Post published:May 25, 2023
Post category:Rare Disease

The safety, pharmacokinetics (absorption), and tolerability of the investigational eIF2B activator ABBV-CLS-7262 is being evaluated in a Phase 1b clinical study to treat patients with Vanishing White Matter (VWM) Disease.…

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New Cell Therapy Approved by the FDA to Reduce Risk of Infection After Transplant

Post author:Rose Duesterwald
Post published:May 22, 2023
Post category:Acute lymphoblastic leukemia Acute Myeloid Leukemia Chronic Myelogenous Leukemia Myelodysplastic syndromes Rare Disease

Omisirge (omidubicel) is the first allogeneic (from a donor) product for SCT that has been the recipient of FDA approval. The FDA's nod moves Omisirge into the realm of…

RECAP: NORD’s Living Rare, Living Stronger Patient & Family Forum

Post author:Jessica Lynn
Post published:May 22, 2023
Post category:Rare Disease

The National Organization for Rare Disorders (NORD), a Patient Worthy partner, formed in 1983 to provide support and education to people and families living with rare diseases, advocate for change…

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Compassion Corner: Compassion Should be Reciprocal: The Rising Suicide Rate of Physicians and Nurses

Post author:Rose Duesterwald
Post published:May 18, 2023
Post category:Rare Disease

Compassion [kuhm-pash-uhn] noun A feeling of deep sympathy and sorrow for another who is stricken by misfortune, accompanied by a strong desire to alleviate the suffering. Compassion Corner is a…

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myTomorrows Launches Clinical Trial Tool TrialSearch AI

Post author:James Moore
Post published:May 18, 2023
Post category:Rare Disease

On April 25, 2023, myTomorrows, a platform designed to help patients obtain access to experimental medicines, recently launched a new tool called TrialSearch AI, an artificial intelligence-powered resource for physicians…

Gene Therapy Takes a Giant Leap Forward

Post author:Kathy Devanny
Post published:May 16, 2023
Post category:Rare Disease

For many rare diseases, gene therapy, not traditional therapeutics, is perhaps the only means to significant relief and cure. However, the path to gene therapy has been strewn with obstacles…

Canada Will Provide $1.5 Billion to Provinces to Support Rare Disease Programs

Post author:Rose Duesterwald
Post published:May 15, 2023
Post category:Rare Disease

Canada’s unemployment rate is at a record low. Industries have recovered 126% of the jobs lost by the pandemic. On the health front, scientific knowledge and the ability to…

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Increasing Patient Engagement in Clinical Trials

Post author:Rose Duesterwald
Post published:May 15, 2023
Post category:Rare Disease

Clinical trials are often mentioned as an afterthought when discussing the length of time it takes for drugs to be approved by the FDA. On the contrary, clinical trials are…

Opinion: The Urgency to Address the Issue of Rare Diseases in India

Post author:Rose Duesterwald
Post published:May 15, 2023
Post category:Rare Disease

Prasanna Shirol, Executive Director of the Organization for Rare Diseases India (ORDI), expresses his opinion to the Times of India about the urgency to address the issue of rare…

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CHOP Researchers Identify Novel Genetic Disorder Caused by MAP4K4 Gene Variants

Post author:Jessica Lynn
Post published:May 9, 2023
Post category:Rare Disease

There are still many unknowns when it comes to our genetics. How do gene variants of unknown significance (VUS) affect us? In what ways can we identify if variants…

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Compassion Corner: An Honest Account by an Orthopedic Surgeon Who Found the Key to Compassion

Post author:Rose Duesterwald
Post published:May 4, 2023
Post category:Rare Disease

Compassion [kuhm-pash-uhn] noun A feeling of deep sympathy and sorrow for another who is stricken by misfortune, accompanied by a strong desire to alleviate the suffering. Compassion Corner is a…

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LifeArc’s £40M Initiative Will Fund 4-5 Translational Rare Disease Centers

Post author:Jessica Lynn
Post published:May 3, 2023
Post category:Rare Disease

Collaboration has always made the world go round - and it's no different in rare disease research. Sometimes, the community affected by a certain rare disease is small, which…

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Living with Dystonia – A Story of Overcoming Adversity

Post author:Tom Seaman
Post published:May 3, 2023
Post category:Dystonia Rare Disease

On April 26th, I had the honor of speaking at the American Brain Foundation’s Commitment to Cures fundraising dinner during the American Academy of Neurology annual convention in Boston. I…

Rare Community Profiles: Probably Genetic Offers No-Cost Genetic Testing for Rare Diseases: A Conversation with CEO Lukas Lange

#HotShotChallenge: How You Can Help Cure PGAP3 One “Shot” At a Time

World Orphan Drug Congress USA 2023: The Forefront of Rare Disease Drug Development

Study of the Week: RNA Sequencing Platform Could Improve Pediatric Rare Disease Diagnosis

Drug Repurposing: Saving Rare Disease Patient Lives

The FDA Has Approved Ayvakit for the Treatment of Indolent Systemic Mastocytosis

Rare Community Profiles: The Cost of Preventive Care in Chronic Illness and Rare Disease—and Why We Need to Talk About It

RNA Sequencing: Hope for Improved Rare Disease Diagnosis

RDLA Webinar: Mental Health and Rare Diseases

Rare Community Profiles: Uplifting Athletes Harnesses the Power of Sport to Benefit the Rare Disease Community

Science Simplified: All About Genetic Sequencing

Rare Community Profiles: “The Boy in the Blue”: An MPS and Mental Health Awareness Project

ABBV CLS 7262 is Being Evaluated as a Potential Treatment for Vanishing White Matter Disease in the Brain

New Cell Therapy Approved by the FDA to Reduce Risk of Infection After Transplant

RECAP: NORD’s Living Rare, Living Stronger Patient & Family Forum

Compassion Corner: Compassion Should be Reciprocal: The Rising Suicide Rate of Physicians and Nurses

myTomorrows Launches Clinical Trial Tool TrialSearch AI

Gene Therapy Takes a Giant Leap Forward

Canada Will Provide $1.5 Billion to Provinces to Support Rare Disease Programs

Increasing Patient Engagement in Clinical Trials

Opinion: The Urgency to Address the Issue of Rare Diseases in India

CHOP Researchers Identify Novel Genetic Disorder Caused by MAP4K4 Gene Variants

Compassion Corner: An Honest Account by an Orthopedic Surgeon Who Found the Key to Compassion

LifeArc’s £40M Initiative Will Fund 4-5 Translational Rare Disease Centers

Living with Dystonia – A Story of Overcoming Adversity

Metastatic Breast Cancer: Navigating Grief

Rethinking What It Means to Live With Acromegaly

The Let’s Chat CAR T One-on-One Mentor Program: Speaking with Someone Who Understands What You Are Going Through

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