Posts tagged with "lead author"

When parents are gay, the kids are okay

November 29, 2018

A study conducted by researchers from the University of Amsterdam, UCLA School of Law in Los Angeles, and Columbia University in New York City has found that the children of same-sex parents are just as healthy emotionally and physically as the children of different-sex parents, CNN reports..

Dr. Nanette Gartrell of UCLA, one of the study’s authors, told CNN that the researchers intended to provide a real population-based, apples-to-apples comparison.

It is the only study to compare same-sex and different-sex parent households with stable, continuously coupled parents and their biological offspring,” Gartrell said, noting that she and her colleagues tried to compensate for the shortcomings of previous investigations—which recruited same-sex parent families and could thus establish a certain selection bias. “It’s been a goal of ours to do a nationally representative survey in which we could do this very carefully matched study,” she said

Using the 2011-2012 National Survey of Children’s Health, provided by the National Center for Health Statistics at the U.S. Centers for Disease Control and Prevention, the researchers matched 95 same-sex female parent households to 95 different-sex parent households based on the following characteristics:

  • Parents’ age,
  • Parents’ level of education,
  • Whether parents were born in the United States,
  • Whether the child was born in the United States or elsewhere
  • Family residence (urban or rural),
  • Child’s age,
  • Child’s race, and
  • Child’s gender.

The study found that there were no differences in the children when it came to their general health, their emotional difficulties, their coping behaviors, or their learning behaviors. What the study found to be more indicative predictors of these behaviors were the relationships between the parents, the parents and the child, and parenting stressors.

The study did note that lesbian parents seem to exhibit higher levels of parenting stress, which Gartell attributed to perceived homophobia. “Parents feel pressured to justify the quality of their parenting more than their heterosexual counterparts. We also suspect and feel that more study is warranted, but the cultural spotlight on same-sex parenting may be part of the stress,” she told the news outlet.

Those who oppose same-sex parenting have pointed to studies—such as one conducted at the Catholic University of America several years ago—that have found gay parents to have a negative impact on childhood outcomes, such as lower levels of income, and poorer mental and physical health

Gartell told CNN that such studies did not compensate for the fact that they were comparing children from same-sex couples who were not continuously coupled. Rather, those studies looked at children from same-sex families who experienced family upheaval such as divorce, adoption or foster care and compared them to children from stable households with different-sex parents.

The current study only looked at lesbian households, she said, because when households were finally matched and controlled for continuous relationships, there were too few male same-sex households.

Gartrell said this is by no means the final study to be done on same-sex parenting. “We still have so much to learn and find out about different types of families,” she commented.

Research contact: ngartrell@nlfs.org

What’s wrong with you? Network of doctors diagnoses 100 previously unsolved cases

October 25, 2018

Not every doctor is an adroit diagnostician—and even those who are will admit to being stumped occasionally by a patient’s symptoms. Now, there is help, even for the hardest cases, from the Undiagnosed Diseases Network—a program created by the National Institutes of Health in 2012.

The program, which first was conceived back in 2008, now depends on a network of collaborative healthcare institutions nationwide—and cross-disciplinary physicians at those institutions—including Baylor College of Medicine, Brigham and Women’s Hospital, Boston Children’s Hospital, Massachusetts General Hospital, Children’s Hospital at Philadelphia and University of Pennsylvania, Duke University and Columbia University, Harvard Medical School and University of Alabama at Birmingham, Mayo Clinic, Stanford Medicine, UCLA, University of Miami School of Medicine, University of Utah, University of Washington School of Medicine and Seattle Children’s Hospital, Vanderbilt University Medical Center, and Washington University in St. Louis.

Through the efforts of the network, more than 100 patients afflicted by mysterious illnesses have been diagnosed to date—and 31 new diseases have been identified.

“Our goal is to take on the hardest cases in medicine — to find patients and families with conditions that no one has been able to solve,” explained Euan Ashley, M.D., a professor of Medicine (Cardiology) at Stanford University, in a news release from the school. “We wanted to provide a place that these people could come, so the Undiagnosed Diseases Network came together to try to answer that need.”

The group, which comprises hundred of doctors, has so far sleuthed out 132 of 382 previously unknown ailments —or roughly 35%.

Some of these patients had been waiting decades to put a name to their illness. They tell us how much of a relief it is simply to know what they were up against,” Ashley said. But what’s most exciting, he said, was that for 80% of the network’s diagnoses, they distilled actionable information, such as changes to patient therapy, adjustments to future diagnostic testing and recommendations for family screening.

“Our findings underscore the impact that establishing a clear diagnosis can have on clinical decision-making for previously undiagnosed patients,” said Kimberly Splinter, associate director Research Operations for the network’s Coordinating Center and a genetic counselor at Harvard Medical School. “We hope that the results of this analysis will provide a compelling case for adopting some of the network’s diagnostic approaches more broadly in an attempt to clarify diagnoses and refine treatment for patients with rare conditions.”

Splinter is the lead author (and Ashley is the senior author) of a paper describing the study that was published online on October 11 in The New England Journal of Medicine.

Of the 1,519 applications from patients that the network received when it was formed, 601 were accepted based on the likelihood that the network would be able to help them, given their past medical records and available data. Now, Ashley and the team of physicians have seen more than half of those patients, combining traditional medicine with increasingly cutting-edge diagnostic tests. The network continues to accept applications.

 “We do this Sherlock Holmes-like detective work-up by carefully observing, gathering information and asking pointed questions, but we’re also pairing that with the most advanced genomic technologies to try to solve their case,” Ashley said.

Every patient had their genome sequenced, even those whose genomes had been previously sequenced. The field of genetic and genomic testing moves so quickly, Ashley explained, that even patients who’ve had their genome sequenced six months ago benefit from another look. In coordination with genome sequencing, the physicians looked at patients’ RNA profiles, analyzing precursor molecules to the proteins found in their bodies. They also broke down a collection of molecules called metabolites, which form as a product of metabolism and can hint at where metabolic processes go wrong.

“Some cases are solved simply because we know more today than we did a year ago,” Ashley said.

Among those diagnosed, most exhibited rare versions of known diseases, broadening the symptomatic information doctors can look for when evaluating patients for those particular diseases in the future. But in 31 patients, the network identified previously unknown syndromes.

A particularly interesting case study is provided by co-author Matthew Wheeler, M.D., assistant professor of Medicine at Stanford and executive director of the Stanford Center for Undiagnosed Diseases.  The case involved a patient whom the network followed for multiple years. The patient had mysterious and life-threatening episodes of something called lactic acidosis, a dangerous buildup of lactic acid in the body.

“It’s sort of like an extreme version of when you exercise intensely, and you feel that burn from the lactate buildup — only it’s your whole body that feels that way,” Wheeler said. “Lactic acidosis can also cause your acid-base balance to be out of whack, and when people have severe acid-base disturbances, they’re at high risk for arrhythmia or death.”

It wasn’t clear why the patient was experiencing these symptoms, which seemed to be prompted by a cold or flu. After giving the patient the full gamut of tests and analyzing sequencing information, a team of Stanford scientists found the culprit: a single mutation in the gene ATP5F1D, which is involved in the function of mitochondria, the cell’s powerhouse.

The genetic oddity and symptoms had never been classified together officially, but from connections within the network and in some instances word of mouth, the scientists found that other doctors around the world had patients plagued by this syndrome. In verifying that the mutation causes the syndrome—called mitochondrial complex V deficiency, nuclear type 5 — network collaborators on the study developed animal models to show causality.

“This is a new type of scientific odyssey,” Ashley said. “We’re learning about biology in a way that could help not just one family, but potentially dozens, even hundreds, of families who suffer that same rare condition. That’s the biggest benefit of this network effect — the impact of identifying one patient’s disease could end up being global.”

Even the patients who did not receive a diagnosis benefit from knowing that a team continues to investigate their conditions and that the future may hold an answer even if the present does not.

“We’ve had patients tell us that just knowing that there is a team looking into their condition, that there is someone in the world who has not given up on them, scientists continuing to keep an eye on the literature — that provides hope,” Ashley said.

Research contact: euan@stanford.edu