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Researchers demystify interdomain communication pathway in Hsp70 protein

Using a combination of computational and experimental techniques, a research team at the University of Massachusetts Amherst led by molecular biologist Lila Gierasch has demystified the pathway of interdomain communication in a family of proteins known as Hsp70s - a top target of dozens of research laboratories trying to develop new anti-cancer drugs, antibiotics and treatments for Alzheimer's and Parkinson's diseases.

30 Aug 2017

FDA grants accelerated approval to new treatment for children with Chagas disease

The U.S. Food and Drug Administration today granted accelerated approval to benznidazole for use in children ages 2 to 12 years old with Chagas disease. It is the first treatment approved in the United States for the treatment of Chagas disease.

29 Aug 2017

New antibodies may halt key pathological mechanisms across several neurological diseases

A new kind of antibody targets a feature shared by proteins thought to cause the most damage in Alzheimer's disease, Parkinson's disease, and related conditions, creating potential for a unified treatment approach.

29 Aug 2017

Pfizer announces launch two new digital innovations to help people living with hemophilia

Pfizer Inc. today announced the launch of Hemocraft, a modification of the popular video game Minecraft, and the HemMobile Striiv Wearable, a custom wristband, to help people living with hemophilia better approach hemophilia education and activity tracking in the US.

26 Aug 2017

Shire partners with MicroHealth to support secure care monitoring tool for hemophilia patients with inhibitors

Shire plc, the biotech leader in rare diseases, today announced a collaboration with MicroHealth to support a free and secure care monitoring tool for hemophilia A and B patients with inhibitors and their care teams.

26 Aug 2017

What happens if you’re forced to switch health plans when you’re sick?

Joanna Joshua, 39, panicked when she opened a letter from her family's insurer, Cigna, only to learn it was pulling out of California's individual market next year.

26 Aug 2017

Researchers uncover how mutations in single gene lead to rare kidney and liver disease

In a joint international study, researchers from Osaka University have partnered with research groups from the United States and Spain to uncover how mutations in a single gene called PKHD1 lead to symptoms associated with a rare kidney and liver disease, ARPKD (autosomal recessive polycystic kidney disease).

24 Aug 2017

Researchers develop quick and easy-to-use test for detecting rare immunodeficiency

Researchers at the University of Basel have developed a test to quickly and reliably diagnose a rare and severe immune defect, hepatic veno-occlusive disease with immunodeficiency. They reported on their findings in the Journal of Clinical Immunology.

22 Aug 2017

Bionic vision restoration: could future technologies restore sight?

The brain is very plastic, which means that the brain is able to adapt to new signals. In the case of bionic vision restoration, the photoreceptors have died, the brain is not receiving anything biologically, and you are going to then send something which is artificial, prosthetic, and has been created outside the body.

21 Aug 2017

FDA approves Besponsa – Pfizer’s new drug for rare form of acute lymphoblastic leukemia

The U.S. Food and Drug Administration (FDA) today approved Besponsa (inotuzumab ozogamicin) in the treatment of adults with relapsed or refractory B-cell precursor acute lymphoblastic leukemia (ALL) - a rare form of ALL.

17 Aug 2017

$FDA approval provides new, targeted treatment option for adults with relapsed or refractory B-cell ALL$

FDA approval provides new, targeted treatment option for adults with relapsed or refractory B-cell ALL

The U.S. Food and Drug Administration today approved Besponsa (inotuzumab ozogamicin) for the treatment of adults with relapsed or refractory B-cell precursor acute lymphoblastic leukemia (ALL).

17 Aug 2017

Insurers can bend out-of-network rules for patients who need specific doctors

The Affordable Care Act has so far survived Republican attempts to replace it, but many people still face insurance concerns. Below, I answer three questions from readers.

16 Aug 2017

Blood biopsy helps identify targetable genetic alterations in patients with cancer of unknown primary

Using fragments of circulating tumor DNA in blood, University of California San Diego School of Medicine researchers were able to identify theoretically targetable genetic alterations in 66 percent of patients with cancer of unknown primary (CUP), a rare disease with seven to 12 cases per 100,000 people each year.

16 Aug 2017

Understanding the rise in NTM infections

It is important to keep in mind that nontuberculous mycobacteria are environmental, and so unlike mycobacterial tuberculosis, generally this is not a person to person transmitted disease. The organisms are found universally in water and soil and so most people are exposed on a daily basis.

16 Aug 2017

Lab-grown miniature blood vessels mimic rare Hutchinson-Gilford Progeria Syndrome

Biomedical engineers have grown miniature human blood vessels that exhibit many of the symptoms and drug reactions associated with Hutchinson-Gilford Progeria Syndrome -- an extremely rare genetic disease that causes symptoms resembling accelerated aging in children.

16 Aug 2017

Climbing cost of decades-old drugs threatens to break Medicaid bank

Skyrocketing price tags for new drugs to treat rare diseases have stoked outrage nationwide. But hundreds of old, commonly used drugs cost the Medicaid program billions of extra dollars in 2016 vs. 2015, a Kaiser Health News data analysis shows.

14 Aug 2017

Researchers unravel genetic characteristics that increase risk of developing Tourette syndrome

An international research team including Vasiliy Ramensky, a member of the MIPT Life Sciences Center, has unraveled genetic characteristics that increase the risk of developing Tourette syndrome.

10 Aug 2017

Hospitals slashed use of two heart drugs after huge price hikes

Even before media reports and a congressional hearing vilified Valeant Pharmaceuticals International for raising prices on a pair of lifesaving heart drugs, Dr. Umesh Khot knew something was very wrong.

9 Aug 2017

Promising brain cancer vaccine developed at Roswell Park receives orphan drug status from FDA

The U.S. Food and Drug Administration has awarded orphan drug status to a promising immunotherapy vaccine developed at Roswell Park Cancer Institute.

8 Aug 2017

Newly discovered biomarker linked to rare metabolic disorders may facilitate better diagnosis

A newly discovered biomarker associated with a rare metabolic disorder may facilitate better diagnosis and identification of new drugs for clinical trials for the disease, according to researchers in the Perelman School of Medicine at the University of Pennsylvania.

7 Aug 2017

Rare Disease News and Research

Researchers demystify interdomain communication pathway in Hsp70 protein

FDA grants accelerated approval to new treatment for children with Chagas disease

New antibodies may halt key pathological mechanisms across several neurological diseases

Pfizer announces launch two new digital innovations to help people living with hemophilia

Shire partners with MicroHealth to support secure care monitoring tool for hemophilia patients with inhibitors

What happens if you’re forced to switch health plans when you’re sick?

Researchers uncover how mutations in single gene lead to rare kidney and liver disease

Researchers develop quick and easy-to-use test for detecting rare immunodeficiency

Bionic vision restoration: could future technologies restore sight?

FDA approves Besponsa – Pfizer’s new drug for rare form of acute lymphoblastic leukemia

FDA approval provides new, targeted treatment option for adults with relapsed or refractory B-cell ALL

Insurers can bend out-of-network rules for patients who need specific doctors

Blood biopsy helps identify targetable genetic alterations in patients with cancer of unknown primary

Understanding the rise in NTM infections

Lab-grown miniature blood vessels mimic rare Hutchinson-Gilford Progeria Syndrome

Climbing cost of decades-old drugs threatens to break Medicaid bank

Researchers unravel genetic characteristics that increase risk of developing Tourette syndrome

Hospitals slashed use of two heart drugs after huge price hikes

Promising brain cancer vaccine developed at Roswell Park receives orphan drug status from FDA

Newly discovered biomarker linked to rare metabolic disorders may facilitate better diagnosis

Industry Focus eBook - Cell biology (5th edition) eBook

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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