Rare disease Archives

News and Trends 20 Jun 2023

BIO International Convention 2023: The Highlights

BIO International Convention, one of the largest networking events hosted for the biotech industry, has been influential in helping biopharmas discover new opportunities and building and strengthening partnerships within the biotech and pharma community. This year, the event took place from June 5 to 8, in the bustling biotech hotspot of Boston, Massachusetts, and saw […]

June 20, 2023 - 14 minutesmins - By Dylan Kissane

In Depth 14 Jun 2023

How are biotechs addressing rare chromosome disorders?

Human beings typically have 23 pairs of chromosomes. But sometimes, in rare cases, an error during cell division can result in cells having extra or missing chromosomes, indicative of chromosomal disorders. Often, prenatal tests are carried out to detect chromosomal abnormalities. Amniocentesis is a diagnostic procedure where the amniotic fluid that protects a fetus during […]

June 14, 2023 - 7 minutesmins - By Roohi Mariam Peter

Osteopetrosis ADO2 radiopaedia case ID 8037

News and Trends 16 May 2023

SiSaf siRNA therapy gets FDA designations to treat autosomal dominant osteopetrosis

SiSaf Ltd, an RNA delivery and therapeutics company, has announced that SIS-101-ADO, its siRNA therapeutic for patients with autosomal dominant osteopetrosis Type 2 (ADO2), has been granted orphan drug designation by the U.S. FDA. Also, due to the serious manifestations of this rare skeletal disorder in children, SIS-101-ADO has been granted rare pediatric disease designation […]

May 16, 2023 - 3 minutesmins - By Jim Cornall

News and Trends 12 May 2023

Cell and gene therapy company NewBiologix exits stealth with $50M

NewBiologix SA has emerged from stealth as a technology innovation company developing a proprietary and breakthrough platform for the advanced engineering of cell lines used to manufacture gene and cell therapies. The company’s DNA-based platform is being developed to address key manufacturing challenges associated with the production of recombinant adeno-associated virus (rAAV) vectors used to […]

May 12, 2023 - 3 minutesmins - By Jim Cornall

Podcast 12 May 2023

Beyond Biotech podcast 45: International MPS Awareness Day

This week’s podcast is sponsored by Quantoom. International MPS Awareness Day May is the big month when it comes to awareness – there are almost 100 awareness months, weeks, and days being marked. Some of these are well known conditions. Others, however, are less prominent. International MPS (mucopolysaccharidosis) Awareness Day takes place on May 15. […]

May 12, 2023

News and Trends 28 Apr 2023

Mezzion Pharma raises $40M for treatment option for heart surgery patients

Mezzion Pharma, a rare disease focused pharmaceutical company, has secured nearly $40 million to fund FUEL-2, its confirmatory phase 3 clinical trial, along with future commercialization and regulatory submissions in other countries including Europe. Mezzion Pharma is looking to bring to market JURVIGO (udenafil), a highly selective, unique and potent phosphodiesterase type 5 (PDE-5) inhibitor, […]

April 28, 2023 - 2 minutesmins - By Jim Cornall

News and Trends 24 Apr 2023

LifeArc launches £40M funding call to create Translational Rare Disease Centres

LifeArc is inviting applications from academic institutions for its latest £40 million ($49.8 million) initiative to fund four or five new Translational Rare Disease Centres in the U.K., along with a separate co-ordinating hub. LifeArc, which is a self-funded, non-profit medical research charity, specializes in early-stage translation – the advancement of scientific discoveries towards patient […]

April 24, 2023 - 3 minutesmins - By Jim Cornall

News and Trends 21 Apr 2023

Orphalan announces U.S. launch of drug to treat Wilson disease

Orphalan SA, an international orphan drug development and commercialization company, has announced the commercial launch in the U.S. for Cuvrior. Cuvrior is a new trientine tetrahydrochloride (TETA-4HCl). It is now available for the treatment of adult patients with stable Wilson disease who are de-coppered and tolerant to D-penicillamine. Cuvrior was approved by the United States […]

April 21, 2023 - 3 minutesmins - By Jim Cornall

News and Trends 12 Apr 2023

New technique developed for safer gene editing

CRISPR-Cas9 is widely used to edit the genome by studying genes of interest and modifying disease-associated genes. However, this process can be associated with potential side effects, including unwanted mutations and toxicity. Researchers at Kyushu University and Nagoya University School of Medicine in Japan have developed an optimized genome-editing method that vastly reduces mutations, opening […]

April 12, 2023 - 4 minutesmins - By Jim Cornall

News and Trends 29 Mar 2023

Pharming immunodeficiency drug given FDA approval

Pharming Group N.V. has announced that the US Food and Drug Administration (FDA) has approved Joenja (leniolisib) for the treatment of activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS) in adult and pediatric patients 12 years of age and older. Pharming’s Joenja, an oral, selective PI3Kδ inhibitor, is the first and only treatment approved in the […]

March 29, 2023 - 4 minutesmins - By Jim Cornall

Interview 3 Mar 2023

Interview: how has the first gene therapy for hemophilia B transformed research?

Hemophilia B, a rare disease that affects more than 230,000 people worldwide is caused by the lack of or defective clotting protein factor IX often due to a spontaneous mutation in the F9 gene, leading to excessive bleeding. Until recently, routine prophylactic infusions of factor IX replacement therapy to maintain enough clotting factor to prevent […]

March 3, 2023 - 8 minutesmins - By Roohi Mariam Peter

News and Trends 28 Feb 2023

What’s happening on Rare Disease Day?

Rare Disease Day 2023 is on February 28. The day is dedicated to raising awareness for the approximately 300 million people around the world living with a rare disease. More than 6,000 rare diseases are characterized by a diversity of disorders and symptoms that vary not only from disease to disease, but also from patient […]

February 28, 2023 - 8 minutesmins - By Jim Cornall

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Rare disease

BIO International Convention 2023: The Highlights

How are biotechs addressing rare chromosome disorders?

SiSaf siRNA therapy gets FDA designations to treat autosomal dominant osteopetrosis

Cell and gene therapy company NewBiologix exits stealth with $50M

Beyond Biotech podcast 45: International MPS Awareness Day

Mezzion Pharma raises $40M for treatment option for heart surgery patients

LifeArc launches £40M funding call to create Translational Rare Disease Centres

Orphalan announces U.S. launch of drug to treat Wilson disease

New technique developed for safer gene editing

Pharming immunodeficiency drug given FDA approval

Interview: how has the first gene therapy for hemophilia B transformed research?

What’s happening on Rare Disease Day?

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10 oncology deals in 2025 spotlight where industry leaders are betting big

10 biotech companies leading the way in Denmark

Webinar: Advancements in antimalarial drug discovery and development

Six psychedelic drug companies aiming to revolutionize mental health treatment

Connect with decision-makers and researchers worldwide for collaborative opportunities

Subscribe to our newsletter

Advertise with us

10 oncology deals in 2025 spotlight where industry leaders are betting big

10 biotech companies leading the way in Denmark

Webinar: Advancements in antimalarial drug discovery and development

Six psychedelic drug companies aiming to revolutionize mental health treatment

Connect with decision-makers and researchers worldwide for collaborative opportunities

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Advertise with us

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