Stories about: Orphan diseases

Can rare disease genes be protective?

Carriers of the rare disease Niemann-Pick C1 may be protected against Ebola.
Carriers of the rare disease Niemann-Pick C1 may be protected against Ebola.
First of several posts to commemorate (Feb 28, 2015).

Evolution is a strange thing: sometimes it favors keeping a mutation in the gene pool, even when a double dose of it is harmful—even fatal. Why? Because a single copy of that mutation is protective in certain situations.

A classic example is the sickle-cell mutation: People carrying a single copy don’t develop sickle cell disease, but they make enough sickled red blood cells to keep the malaria parasite from getting a toe-hold. (Certain other genetic disorders affecting red blood cells have a similar effect.)

Or consider cystic fibrosis. Carriers of mutations in the CFTR gene—some 1 in 25 people of European ancestry—appear to be protected from typhoid fever, cholera and possibly tuberculosis.

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The Precision Medicine Initiative: A child-centered perspective

child aiming bow & arrow Shutterstock croppedPatrice Milos, PhD, is president and CEO of Claritas Genomics, a CLIA-certified genetic diagnostic testing company spun off from Boston Children’s Hospital in 2013.

A child is sick, showing symptoms her parents cannot identify. Something is seriously wrong, but what? The family turns to Boston Children’s Hospital for answers. Yet, even with today’s medical advances, a precise diagnosis often remains elusive.

The Human Genome Project has sparked innovation over the last 14 years, and as President Obama’s Precision Medicine Initiative asserts, today genome science offers patients new hope for answers.

Initially, cancer will be the major medical focus of this initiative, as cancer is a genetic disease—a genomic alternation of the patient’s normal tissue DNA.

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A link between cystic fibrosis and arsenic poisoning?

boys playing in arsenic-endemic area of Bangladesh

Since its causative gene was sequenced in the 1980s, cystic fibrosis (CF) has been the “textbook” genetic disease. Several thousand mutations have been identified in the CFTR protein, which regulates the flow of chloride in and out of cells. When CFTR is lost or abnormal, thick mucus builds up, impairing patients’ lungs, liver, pancreas, and digestive and reproductive systems, and making their lungs prone to opportunistic infections.

But new research could add a chapter to the textbook, pinpointing an unexpected environmental cause of CF-like illness. A study reported in the February 5 New England Journal of Medicine found that people with arsenic poisoning have high chloride levels in their sweat—the classic diagnostic sign of CF.

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Advancing clinical trials for Niemann-Pick type C: Sweet news for cyclodextrin

cyclodextrin Febreze Niemann-Pick type cOlaf Bodamer, MD, PhD, is associate chief of the Division of Genetics and Genomics at Boston Children’s Hospital and is launching a multidisciplinary clinic this spring for lysosomal storage diseases—including Niemann-Pick type C, sometimes referred to as “childhood Alzheimer’s.”

Niemann-Pick disease type C (NP-C) has come a long way since its first description as an entity in the 1960s. Part of a group of rare metabolic disorders known as lysosomal storage diseases, NP-C leaves children unable to break down cholesterol and other lipid molecules. These molecules accumulate in the liver, spleen and brain, causing progressive neurologic deterioration.

I still vividly remember when I diagnosed my first patient with this devastating disease, a 3-year-old boy who had global developmental delay, restricted eye movement, loss of motor coordination and loss of speech. I spent hours with the family, explaining what was known about NP-C. When faced with the question about treatability and outcome, I could barely find the right words, but had to acknowledge that the outcome was inevitably fatal and that there was no specific treatment other than supportive measures to treat his symptoms.

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CEO panel: Making health care work for children

Last in a series of videotaped sessions from Boston Children’s Hospital’s Global Pediatric Innovation Summit + Awards 2014. View Vector’s full coverage of the Summit.

Children’s hospitals face the challenges of a relatively small patient population, regulatory barriers and care outcomes that may not be measurable for decades. But challenges also bring opportunities. This fall 2014 panel, hosted by Children’s Hospital Association President and CEO Mark Wietecha, gathered CEOs from some of the world’s most respected pediatric hospitals:

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Rare disease: The path less chosen

Part of a continuing series of videotaped sessions at Boston Children’s Hospital’s recent Global Pediatric Innovation Summit + Awards 2014.

Rare diseases offer a lot of opportunity for gene discovery, but getting a drug to market presents many challenges, and costs per patient are high. This 50-minute session explored this complicated landscape from multiple angles. The panelists:

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Wise health care spending for children with medical complexity

Spending on children with medical complexityJay Berry, MD, MPH, is a pediatrician and hospitalist in the Complex Care Service at Boston Children’s Hospital.

Growing up, my parents repeatedly reminded me that “money doesn’t grow on trees.” They pleaded with me to spend it wisely. I’ve recently been thinking a lot about my parents and how their advice might apply to health care spending for my patients.

As a general pediatrician with the Complex Care Service at Boston Children’s Hospital, I care for “medically complex” children. These children—numbering an estimated 500,000 in the U.S.— have serious chronic health problems such as severe cerebral palsy and Pompe disease. Many of them rely on medical technology, like feeding and breathing tubes, to help maintain their health.

These children are expensive to take care of. They make frequent health care visits and tend be high utilizers of medications and equipment. Some use the emergency department and the hospital so often that they’ve been dubbed frequent flyers.

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Why we need more research into childhood cancer

WilliamsDavidDSC_0056PreviewlargeDavid A. Williams, MD, is chief of hematology/oncology at Boston Children’s Hospital and associate chairman of pediatric oncology at Dana-Farber Cancer Institute. This column was first published on Huffington Post.

The fact that childhood cancer is, thankfully, rare belies the fact that it is the leading cause of disease-related death in U.S. children age 1 to 19. The number of people with a direct stake in expanding research into pediatric cancer is quite large, well beyond the small number of children with cancer and their families. Not only are the life-long contributions of children cured of cancer enormous, but understanding cancers of young children could also hold the key to understanding a broad range of adult cancers. The time is ripe to allocate more resources, public and private, to research on pediatric cancer.

In an age of increased understanding of the genetic basis of diseases, one thing is striking about many childhood cancers. They are relatively “quiet” cancers, with very few mutations of the DNA. Young children haven’t lived long enough to acquire the large number of mutations that create the background “noise” associated with years of living. This makes it much easier to pinpoint the relevant genetic abnormalities in a young child’s cancer.

Add to this the growing realization that biology, including how various tumors use common “pathways,” is a major factor in how the cancer responds to treatment. Thus, a mechanism that’s relatively easier to observe in the cancers of young children could help scientists understand cancers in adults, in whom the same mechanism is hidden amid the clutter of mutations acquired over a longer life.

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Rare disease: A difficult therapeutic path

Rare disease panelWhen a rare disease affects you or your family, it doesn’t seem rare. Add them all up, and rare diseases aren’t all that uncommon. What’s rare is for patients to receive effective treatments.

“There are 7,000 rare diseases, and under 400 approved drugs,” says Peter Saltonstall, president and CEO of the National Organization for Rare Disorders (NORD), “so there’s a huge opportunity there to try to develop more drugs.”

Saltonstall spoke today with five other panelists at Boston Children’s Hospital’s Global Pediatric Innovation Summit + Awards in a session titled, “Rare diseases: Lessons from the path less chosen.” David Meeker, MD, president and CEO of Genzyme, moderated.

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Gene discovery: When you’re the only patient with the disease

Gene Discovery Core rare diseaseVector took a moment this morning at the Boston Children’s Hospital Global Pediatric Innovation Summit + Awards to catch up with the Gene Discovery Core at the Manton Center for Orphan Disease Research. Its exhibition table doesn’t have fancy mannequins or flashy screens, but this team is rocking genetics and genomics, one patient at a time.

The usual methods for finding disease-causing genes don’t work for many patients who walk in the doors of Boston Children’s, or who mail in samples from all over the world. They may be one of just a handful of patients in the world with their condition—which may not even have a name yet.

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