Rare Disease News and Research

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Collaborative effort to develop rare disease patient registries

The Orphan Disease Center in the Perelman School of Medicine at the University of Pennsylvania will collaborate with Pulse Infoframe Inc., a medical informatics company, to develop rare disease patient registries aimed at enabling international collaboration to better understand these diseases, as well as accelerate and improve clinical studies to develop new therapies.

31 May 2017

FDA grants approval for new magnetic device used to treat pediatric esophageal atresia

The U.S. Food and Drug Administration has granted authorization for a magnetic device used to treat pediatric esophageal atresia, a birth defect that causes abnormal formation of the esophagus.

25 May 2017

Protein that helps regulate childhood growth could become possible target for anticancer therapies

The path to understanding what goes wrong in cancer could benefit from a detour through studies of rare childhood diseases.

18 May 2017

FDA expands approval for cystic fibrosis drug to treat additional rare gene mutations

The U.S. Food and Drug Administration today expanded the approved use of Kalydeco (ivacaftor) for treating cystic fibrosis.

18 May 2017

Spanish scientists develop promising gene therapy method to treat Wilson's disease

Scientists at the Center for Applied Medical Research at the University of Navarra have designed a promising gene therapy method to treat Wilson's disease, a rare pathology caused by the lack of or malfunction of a gene.

16 May 2017

Boosting clinical trial research in London

Richmond Pharmacology have opened their fourth clinical trial facility and the new site has been used for this type of work for more than 30 years. It's in an ideal location embedded in the University and teaching hospital campus.

11 May 2017

Sangamo Therapeutics and Pfizer team up for development of Hemophilia A gene therapy

Sangamo Therapeutics, Inc. and Pfizer Inc. today announced an exclusive, global collaboration and license agreement for the development and commercialization of gene therapy programs for Hemophilia A, including SB-525, one of Sangamo's four lead product candidates, which Sangamo expects will enter the clinic this quarter.

11 May 2017

New findings pinpoint key feature of rare childhood disease that could help fast-track diagnosis

Australian scientists have shown, for the first time, that a family of untethered proteins builds up in the cells of children with a rare and serious genetic condition, known as mevalonate kinase deficiency (MKD).

10 May 2017

Study shows how influenza A hijacks human cellular machinery to replicate

Much is known about flu viruses, but little is understood about how they reproduce inside human host cells, spreading infection. Now, a research team headed by investigators from the Icahn School of Medicine at Mount Sinai is the first to identify a mechanism by which influenza A, a family of pathogens that includes the most deadly strains of flu worldwide, hijacks cellular machinery to replicate.

5 May 2017

FDA approves new treatment for people with ALS

The U.S. Food and Drug Administration today approved Radicava (edaravone) to treat patients with amyotrophic lateral sclerosis, commonly referred to as Lou Gehrig's disease.

5 May 2017

New conference aims to improve understanding of how advances in genomics influence society

From prenatal genetic screening to the genetic testing of women with family histories of breast cancer, genomics is rapidly becoming a fixture in our lives.

5 May 2017

International consensus addresses research bottlenecks to diagnose rare genetic diseases

A worldwide consensus co-authored by more than 40 scientists sets out ways to address research bottlenecks as the international community strives to diagnose most rare genetic diseases by 2020.

4 May 2017

$New mutation predisposes patients under osteoporosis treatment to atypical femur fractures, study finds$

New mutation predisposes patients under osteoporosis treatment to atypical femur fractures, study finds

A team of researchers of the University of Barcelona and the Hospital del Mar Medical Research Institute have discovered a new mutation that has an impact on the bone so that it is vulnerable to the bisphosphonate, a drug used to treat osteoporosis.

4 May 2017

Shire and Parion Sciences to collaborate on P-321 for ophthalmic indications

Shire plc and Parion Sciences, Inc. have announced they have entered into an agreement granting Shire exclusive worldwide rights to develop and commercialize P-321. Shire will lead development of P-321, an investigational epithelial sodium channel (ENaC) inhibitor for the potential treatment of dry eye disease in adults, with the opportunity for Parion to co-fund.

3 May 2017

New analysis shows high mortality and financial burden for pulmonary disease due to non-tuberculosis mycobacterium (NTM)

The first European study into the burden of non-tuberculosis mycobacterium pulmonary disease (NTM-PD), published today in the European Respiratory Journal, has revealed that both the 3-year all-cause mortality rate and financial burden for patients with the disease is almost four times higher than a matched control group.

2 May 2017

Stivarga receives expanded FDA approval for treatment of liver cancer

The U.S. Food and Drug Administration today expanded the approved use of Stivarga (regorafinib) to include treatment of patients with hepatocellular carcinoma (HCC or liver cancer) who have been previously treated with the drug sorafenib.

28 Apr 2017

FDA approves first drug for treating rare form of Batten disease

The U.S. Food and Drug Administration today approved Brineura (cerliponase alfa) as a treatment for a specific form of Batten disease. Brineura is the first FDA-approved treatment to slow loss of walking ability in symptomatic pediatric patients 3 years of age and older with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), also known as tripeptidyl peptidase-1 (TPP1) deficiency.

27 Apr 2017

Transgenic fruit flies can shed light on genetic mutations that underlie kidney disease in humans

An off-the-shelf dietary supplement available for pennies per dose demonstrated the ability to reverse cellular damage linked to specific genetic mutations in transgenic fruit flies, an experimental model of genetic mutation-induced renal cell injury that features striking similarities to humans, a Children's National Health System research team reports April 20 in Journal of the American Society of Nephrology.

21 Apr 2017

Rat study reveals new clues to devastating neurological disease

After a 29-year quest, Ian Duncan, a professor of veterinary medicine at the University of Wisconsin-Madison, has finally pinpointed the cause of a serious neurologic disease in a colony of rats.

20 Apr 2017

Targeted treatment slows progression of two degenerative brain diseases in mice

Scientists report a significant step toward combatting two degenerative brain diseases that chip away at an individual's ability to move, and think.

12 Apr 2017

Rare Disease News and Research

Collaborative effort to develop rare disease patient registries

FDA grants approval for new magnetic device used to treat pediatric esophageal atresia

Protein that helps regulate childhood growth could become possible target for anticancer therapies

FDA expands approval for cystic fibrosis drug to treat additional rare gene mutations

Spanish scientists develop promising gene therapy method to treat Wilson's disease

Boosting clinical trial research in London

Sangamo Therapeutics and Pfizer team up for development of Hemophilia A gene therapy

New findings pinpoint key feature of rare childhood disease that could help fast-track diagnosis

Study shows how influenza A hijacks human cellular machinery to replicate

FDA approves new treatment for people with ALS

New conference aims to improve understanding of how advances in genomics influence society

International consensus addresses research bottlenecks to diagnose rare genetic diseases

New mutation predisposes patients under osteoporosis treatment to atypical femur fractures, study finds

Shire and Parion Sciences to collaborate on P-321 for ophthalmic indications

New analysis shows high mortality and financial burden for pulmonary disease due to non-tuberculosis mycobacterium (NTM)

Stivarga receives expanded FDA approval for treatment of liver cancer

FDA approves first drug for treating rare form of Batten disease

Transgenic fruit flies can shed light on genetic mutations that underlie kidney disease in humans

Rat study reveals new clues to devastating neurological disease

Targeted treatment slows progression of two degenerative brain diseases in mice

Designing fluidic architecture for scalable diagnostic platforms

Evaluating new approaches for rare disease genomics

Expanding access to NMR with the Fourier 80 Duo

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