ACR annual meeting pediatric track highlights gene sequencing, brain disease

Will gene sequencing be one of the keys to unlocking previously mysterious inflammatory disorders in children?

Yes, according to new research to be presented at the annual meeting of the American College of Rheumatology in Washington. Gene and whole-exome sequencing will change the way these disorders are categorized, diagnosed, and managed, bringing new hope to the children who suffer from these rare, and devastating illnesses.

Program cochairs Anne M. Stevens, MD, and Anthony French, MD, PhD, agree: Gene sequencing is one of the most exciting and potentially practice-changing topics that ACR’s pediatric track will explore.

“We now actually have the ability to figure out what’s wrong with some of these patients, and that is a very powerful thing,” said Dr. French of Washington University in St. Louis. “We still scratch our heads on lots of cases. But gene sequencing is becoming much more accessible now. The underlying mechanisms of the diseases we deal with may not be entirely clear, but now we have a means to understand them better, and target our therapy.”

A session at 11:00 a.m. on Sunday, Nov. 13, is particularly intriguing, said Dr. Stevens of Seattle Children’s Hospital. “Early-Onset Monogenic Inflammatory Diseases” features two speakers.

Hal Hoffman, MD, chief of allergy, immunology and rheumatology in the department of pediatrics at the University of California, San Diego, will speak on inflammasome-associated disorders. He’ll present a case-based lecture, “so pediatric rheumatologists will be able to recognize these diseases, identify the genes underlying them, and make a clear genetic diagnosis,” Dr. Stevens said.

Bruce Jancin/Frontline Medical News

Scott Snapper, MD, PhD, director of inflammatory bowel research at Brigham and Women’s Hospital, Boston, will lecture on the monogenic immunodeficiencies of early-onset inflammatory bowel disease. He will discuss his work on the underpinnings of early-onset inflammatory bowel disease.

“These two speakers have been successful in identifying specific genes for these illnesses that have led to very specific treatments and, in some cases, complete resolution of symptoms,” Dr. Stevens noted.

“Advances in Clinical Care through Whole Exome Sequencing,” set for 11:00 a.m. on Tuesday, Nov. 15, will explore the practical impact of gene sequencing studies. Alexei A. Grom, MD, of Cincinnati Children’s Hospital, will discuss the practicalities of whole-exome sequencing: when to order it, how to interpret the findings, and how to use the results to help patients.

Jordan S. Orange, MD, PhD, of Baylor College of Medicine, Houston, will discuss his lab’s recent project: whole-exome sequencing of hundreds of pediatric rheumatology patients. “This study hasn’t focused on a specific disease or a specific gene but looked at the entire exome in an unbiased way,” Dr. Stevens said. “So far, they have identified genes associated with inflammatory disease in about 25% of this population.”

The session is meant to be practical as well as academic, Dr. French noted. “In the last few years, these tests have become much more accessible and easier to do in the clinic, not just in a research setting, and we’re going to focus on how to use them to individualize care.”

Dr. Stevens and Dr. French are also excited about the pediatric nephrology track, which kicks off with “What a Pediatric Rheumatologist May Want to Know About the Kidneys” at 8:30 a.m. on Monday, Nov. 14.

Mark M. Mitsnefes, MD, director of clinical and translational research at Cincinnati Children’s Hospital, will focus on treating hypertension in pediatric rheumatology patients. Bradley P. Dixon, MD, director of the nephrology clinical laboratory at Cincinnati Children’s, will review the thrombotic microangiopathies and discuss new treatment options. Stephen Marks, MD, a kidney transplant expert from London, will finish the session with a detailed discussion of lupus nephritis in children, focusing on early diagnosis.

Pediatric autoimmune brain disorders are on tap for a morning session on Tuesday, Nov. 14. Dr. Stevens is particularly looking forward to this session, which begins at 8:30 a.m.

“As pediatric rheumatologists, we are more and more often being asked to consult on new-onset seizures, psychoses, hallucinations, and stroke. It’s quite a challenge to figure out whether these are related to autoimmune disorders.”

The first lecture of the series focuses on the pathogenesis of autoimmune brain disease, and how to make the diagnosis. Russell Dale, MD, of the University of Sydney will talk about therapeutic decision making in these illnesses.

Josep Obrador Dalmau, MD, of the University of Pennsylvania, Philadelphia, will discuss anti–NMDA receptor encephalitis. Hermine I. Brunner, MD, director of rheumatology at Cincinnati Children’s, will close with a diagnostic and therapeutic update of neuropsychiatric systemic lupus erythematosus.

“This is a huge challenge for us,” Dr. Stevens said. “Children with lupus can have obvious central nervous system involvement, but also not-so-obvious involvement, including depression, anxiety, and cognitive difficulties.”

Will gene sequencing be one of the keys to unlocking previously mysterious inflammatory disorders in children?

Yes, according to new research to be presented at the annual meeting of the American College of Rheumatology in Washington. Gene and whole-exome sequencing will change the way these disorders are categorized, diagnosed, and managed, bringing new hope to the children who suffer from these rare, and devastating illnesses.

Program cochairs Anne M. Stevens, MD, and Anthony French, MD, PhD, agree: Gene sequencing is one of the most exciting and potentially practice-changing topics that ACR’s pediatric track will explore.

“We now actually have the ability to figure out what’s wrong with some of these patients, and that is a very powerful thing,” said Dr. French of Washington University in St. Louis. “We still scratch our heads on lots of cases. But gene sequencing is becoming much more accessible now. The underlying mechanisms of the diseases we deal with may not be entirely clear, but now we have a means to understand them better, and target our therapy.”

A session at 11:00 a.m. on Sunday, Nov. 13, is particularly intriguing, said Dr. Stevens of Seattle Children’s Hospital. “Early-Onset Monogenic Inflammatory Diseases” features two speakers.

Hal Hoffman, MD, chief of allergy, immunology and rheumatology in the department of pediatrics at the University of California, San Diego, will speak on inflammasome-associated disorders. He’ll present a case-based lecture, “so pediatric rheumatologists will be able to recognize these diseases, identify the genes underlying them, and make a clear genetic diagnosis,” Dr. Stevens said.

Bruce Jancin/Frontline Medical News

Scott Snapper, MD, PhD, director of inflammatory bowel research at Brigham and Women’s Hospital, Boston, will lecture on the monogenic immunodeficiencies of early-onset inflammatory bowel disease. He will discuss his work on the underpinnings of early-onset inflammatory bowel disease.

“These two speakers have been successful in identifying specific genes for these illnesses that have led to very specific treatments and, in some cases, complete resolution of symptoms,” Dr. Stevens noted.

“Advances in Clinical Care through Whole Exome Sequencing,” set for 11:00 a.m. on Tuesday, Nov. 15, will explore the practical impact of gene sequencing studies. Alexei A. Grom, MD, of Cincinnati Children’s Hospital, will discuss the practicalities of whole-exome sequencing: when to order it, how to interpret the findings, and how to use the results to help patients.

Jordan S. Orange, MD, PhD, of Baylor College of Medicine, Houston, will discuss his lab’s recent project: whole-exome sequencing of hundreds of pediatric rheumatology patients. “This study hasn’t focused on a specific disease or a specific gene but looked at the entire exome in an unbiased way,” Dr. Stevens said. “So far, they have identified genes associated with inflammatory disease in about 25% of this population.”

The session is meant to be practical as well as academic, Dr. French noted. “In the last few years, these tests have become much more accessible and easier to do in the clinic, not just in a research setting, and we’re going to focus on how to use them to individualize care.”

Dr. Stevens and Dr. French are also excited about the pediatric nephrology track, which kicks off with “What a Pediatric Rheumatologist May Want to Know About the Kidneys” at 8:30 a.m. on Monday, Nov. 14.

Mark M. Mitsnefes, MD, director of clinical and translational research at Cincinnati Children’s Hospital, will focus on treating hypertension in pediatric rheumatology patients. Bradley P. Dixon, MD, director of the nephrology clinical laboratory at Cincinnati Children’s, will review the thrombotic microangiopathies and discuss new treatment options. Stephen Marks, MD, a kidney transplant expert from London, will finish the session with a detailed discussion of lupus nephritis in children, focusing on early diagnosis.

Pediatric autoimmune brain disorders are on tap for a morning session on Tuesday, Nov. 14. Dr. Stevens is particularly looking forward to this session, which begins at 8:30 a.m.

“As pediatric rheumatologists, we are more and more often being asked to consult on new-onset seizures, psychoses, hallucinations, and stroke. It’s quite a challenge to figure out whether these are related to autoimmune disorders.”

The first lecture of the series focuses on the pathogenesis of autoimmune brain disease, and how to make the diagnosis. Russell Dale, MD, of the University of Sydney will talk about therapeutic decision making in these illnesses.

Josep Obrador Dalmau, MD, of the University of Pennsylvania, Philadelphia, will discuss anti–NMDA receptor encephalitis. Hermine I. Brunner, MD, director of rheumatology at Cincinnati Children’s, will close with a diagnostic and therapeutic update of neuropsychiatric systemic lupus erythematosus.

“This is a huge challenge for us,” Dr. Stevens said. “Children with lupus can have obvious central nervous system involvement, but also not-so-obvious involvement, including depression, anxiety, and cognitive difficulties.”

Will gene sequencing be one of the keys to unlocking previously mysterious inflammatory disorders in children?

Yes, according to new research to be presented at the annual meeting of the American College of Rheumatology in Washington. Gene and whole-exome sequencing will change the way these disorders are categorized, diagnosed, and managed, bringing new hope to the children who suffer from these rare, and devastating illnesses.

Program cochairs Anne M. Stevens, MD, and Anthony French, MD, PhD, agree: Gene sequencing is one of the most exciting and potentially practice-changing topics that ACR’s pediatric track will explore.

“We now actually have the ability to figure out what’s wrong with some of these patients, and that is a very powerful thing,” said Dr. French of Washington University in St. Louis. “We still scratch our heads on lots of cases. But gene sequencing is becoming much more accessible now. The underlying mechanisms of the diseases we deal with may not be entirely clear, but now we have a means to understand them better, and target our therapy.”

A session at 11:00 a.m. on Sunday, Nov. 13, is particularly intriguing, said Dr. Stevens of Seattle Children’s Hospital. “Early-Onset Monogenic Inflammatory Diseases” features two speakers.

Hal Hoffman, MD, chief of allergy, immunology and rheumatology in the department of pediatrics at the University of California, San Diego, will speak on inflammasome-associated disorders. He’ll present a case-based lecture, “so pediatric rheumatologists will be able to recognize these diseases, identify the genes underlying them, and make a clear genetic diagnosis,” Dr. Stevens said.

Bruce Jancin/Frontline Medical News

Scott Snapper, MD, PhD, director of inflammatory bowel research at Brigham and Women’s Hospital, Boston, will lecture on the monogenic immunodeficiencies of early-onset inflammatory bowel disease. He will discuss his work on the underpinnings of early-onset inflammatory bowel disease.

“These two speakers have been successful in identifying specific genes for these illnesses that have led to very specific treatments and, in some cases, complete resolution of symptoms,” Dr. Stevens noted.

“Advances in Clinical Care through Whole Exome Sequencing,” set for 11:00 a.m. on Tuesday, Nov. 15, will explore the practical impact of gene sequencing studies. Alexei A. Grom, MD, of Cincinnati Children’s Hospital, will discuss the practicalities of whole-exome sequencing: when to order it, how to interpret the findings, and how to use the results to help patients.

Jordan S. Orange, MD, PhD, of Baylor College of Medicine, Houston, will discuss his lab’s recent project: whole-exome sequencing of hundreds of pediatric rheumatology patients. “This study hasn’t focused on a specific disease or a specific gene but looked at the entire exome in an unbiased way,” Dr. Stevens said. “So far, they have identified genes associated with inflammatory disease in about 25% of this population.”

The session is meant to be practical as well as academic, Dr. French noted. “In the last few years, these tests have become much more accessible and easier to do in the clinic, not just in a research setting, and we’re going to focus on how to use them to individualize care.”

Dr. Stevens and Dr. French are also excited about the pediatric nephrology track, which kicks off with “What a Pediatric Rheumatologist May Want to Know About the Kidneys” at 8:30 a.m. on Monday, Nov. 14.

Mark M. Mitsnefes, MD, director of clinical and translational research at Cincinnati Children’s Hospital, will focus on treating hypertension in pediatric rheumatology patients. Bradley P. Dixon, MD, director of the nephrology clinical laboratory at Cincinnati Children’s, will review the thrombotic microangiopathies and discuss new treatment options. Stephen Marks, MD, a kidney transplant expert from London, will finish the session with a detailed discussion of lupus nephritis in children, focusing on early diagnosis.

Pediatric autoimmune brain disorders are on tap for a morning session on Tuesday, Nov. 14. Dr. Stevens is particularly looking forward to this session, which begins at 8:30 a.m.

“As pediatric rheumatologists, we are more and more often being asked to consult on new-onset seizures, psychoses, hallucinations, and stroke. It’s quite a challenge to figure out whether these are related to autoimmune disorders.”

The first lecture of the series focuses on the pathogenesis of autoimmune brain disease, and how to make the diagnosis. Russell Dale, MD, of the University of Sydney will talk about therapeutic decision making in these illnesses.

Josep Obrador Dalmau, MD, of the University of Pennsylvania, Philadelphia, will discuss anti–NMDA receptor encephalitis. Hermine I. Brunner, MD, director of rheumatology at Cincinnati Children’s, will close with a diagnostic and therapeutic update of neuropsychiatric systemic lupus erythematosus.

“This is a huge challenge for us,” Dr. Stevens said. “Children with lupus can have obvious central nervous system involvement, but also not-so-obvious involvement, including depression, anxiety, and cognitive difficulties.”