NF2 is a genetically determined disorder which affects one in 40,000 individuals worldwide. It is clinically distinct from NF1 and is ten times less common. Individuals with NF2 will not develop NF1, and those people born with NF1 will not progress to NF2.
One of the frustrating aspects of NF2 is its variation from individual to individual. In this regard, the medical problems and the time course of NF2 may be different, even in members of the same family..
In general, most individuals with NF2 experience their first symptoms during the late teenage years or in their early 20’s. A few people develop symptoms in childhood and some do not have problems until their 40’s or 50’s..
Affected individuals develop many nervous system tumors that may require treatment. Since the tumors grow slowly, they may be present for many years before causing symptoms. For that reason, NF2 should be evaluated at least annually for tumors, hearing and cataract formation. The optimal and recommended approach involves evaluation by a multidisciplinary team of specialists who can provide a diverse and expanded-level of expertise on this condition.

Hives Symptoms and Treatment

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hivesHives, called urticaria by physicians, is among the most common factors behind skin inflammation. Around 20% of the population are affected from urticaria at least one time in their lives.
Hives are itchy, red rashes that rise and disappear completely quickly up, to be replaced by others sometimes. A few people discover that the problem recurs or lasts a lot more than 6 weeks.
In this article you will find hives symptoms and treatment as well as causes of hives.
Causes of Hives
Hives appear as a new reaction to an exterior irritant that's ingested or touches the skin. In reaction to the irritant, the physical body releases chemicals such as for example histamine that cause itching and inflammation. Irritants can include food items, medications, cosmetic items, insect stings, chemicals, attacks, and medical problems, and contact with extreme heat or chilly even.
In a minority of individuals with hives, an obvious allergic link could be proven. They create rashes after eating food items, taking certain medicines, or becoming stung by an insect.
Coffee, alcohol, and tobacco are defined as triggers of acute assaults of hives rarely, but people who have problems with chronic hives report these substances make their symptoms worse often.
If you get yourself a rash from medicines or food, it may not function as primary ingredient that's evoking the problem. It may be a preservative or some other additive. For instance, if a number of different medications and foods appear to give you hives, you might be reacting to tartrazine, a colouring agent used in pills and meals frequently.
Cosmetics, soaps, perfumes, and lotions could cause reactions also. Often, this can only occur once you switch to a fresh type. This may ensure it is less difficult to identify the reason for your hives. Other typical irritants are nickel inside jewellery and inside gloves or condoms latex.
Allergic urticaria may be the true name directed at hives caused by allergies to food, insect bites, medications, or makeup. Other styles are due to physical discomfort, such as sunlight, chilly, or rubbing of your skin. While we don't contact these kinds allergic, the underlying process is a lot the same.
Hives due to sunlight (photosensitive urticaria) might not look like an allergic situation at first sight, however the evidence suggests it really is. People have become delicate to lighting after receiving the bloodstream item immunoglobulin from others with this particular rare condition.
The same will additionally apply to hives caused by winter. It appears likely that the bloodstream of people with one of these conditions carries irregular immune cells. These tissues attack when met with chemicals that are usually released in your skin by cold, sunlight, or various other external circumstance.
Dozens of infections could cause hives, including throat, belly, and genital or even urinary (genitourinary) tract attacks; fungal attacks; mononucleosis; and hepatitis. The normal cold causes hives in children. Hives aren't directly due to the infectious organism, as in chickenpox or cellulitis. Rather, they're due to "pleasant fire" from the human being body's own defences.
Other triggers frequently connected with hives include:
friction - about 5% of the population are inclined to developing pores and skin rashes after mild rubbing or scratching of your skin; this condition is named dermatographism. Repetitive scratching of the hives may worsen the problem
swimming, that may cause severe reactions fairly, probably more because of the chilly than to the drinking water
exercise, stress, and very hot showers, which cause a type of hives called cholinergic urticaria
stress from belts, straps, and elastic, causing pressure urticaria
pregnancy - hives frequently appear late in pregnancy
Chronic or recurring hives might mean you're being repeatedly subjected to a trigger, or it may be an indicator of underlying disease. Lupus, arthritis rheumatoid, and thyroid problems are diseases more likely to trigger hives to appear.
Complications and symptoms of Hives
Hives itchy are, red welts on your skin. They could join together to create one large rash or could be spread out to create several smaller types. They're often big and slightly raised. The advantage of the rash is frequently the most inflamed component, with the center being paler in color. There might be discomfort or burning of itching instead.
Acute hives usually final only 24 hours in confirmed location on your body; bouts of severe hives can last around 6 days. Chronic hives can final for a lot more than 6 days. Most cases however, last about a week.
Occasionally the rash is a lot more than skin deep. If histamine along with other inflammatory brokers are released in to the layers simply under your skin, the swelling will be more serious and itching may very well be replaced by discomfort. This problem is called angioedema.
Angioedema could cause alarming swelling inside the mucous membrane of the lips, mouth area, gut, genitals, or even throat. The swelling falls within a day usually, but very it inhibits breathing and requires crisis treatment rarely. In the event that you experience hives which are associated with dizziness, problems inhaling and exhaling, or throat swelling, obtain immediate medical attention.

Presenter - Dr. Brad Welling

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First of all, thank you so much for coming. We come from California, Texas, Utah, New York, Georgia. I am not going to name them all. It would take too long. Thank you for the sacrifices you made to be here, to be away from your families, the financial sacrifices. We appreciate all that. But it's a special time, and it's a special place that we are all here. You don't have to worry about, "I can't hear" or "I stumble." I fell almost twice this weekend myself. But before we start, I want to thank some people for coming. Number one, Dr. Welling. I am going to say a few personal things. He is a great man! He is dedicated to the NF2. He does drug research. He wants our lives to be better. He cares about the quality of our lives. He is a patient- oriented physician.

I will tell one story that will prove this point a million times over. I had brain surgery in January. About a month later, I developed spinal fluid. Steve called Dr. Welling. To make a long story short, Dr. Welling, he was in Phoenix at the time. They actually admitted me to the hospital. And that afternoon, Dr. Welling walks in my room. He got off the airplane, came straight to Ohio State Hospital to see me. He didn't even go home. I know some of you are patients of Dr. Welling. We all have our own stories to tell about what a great physician he is, and caring wonderful man. t's a privilege and honor that he takes care of us the way he does. Thank you so much.

Next is Andrea Crago. She is from PRI, Professional Reporters, Inc. She makes this possible for us. We all would be staring at each other, making funny faces. She brings the world of speech, so we can take advantage of the great things we will "hear" this morning.

Dr. Welling, he got back at 1 a.m. this morning from Europe. He is with us here this morning. We appreciate that. I want to thank the volunteers that helped out this weekend. It's a big event. I couldn't have done this without this person taking over and that person taking over. Thank you for all your help.

Rachelle Swafford's Memorial

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Gladys Bell:

Good morning, everyone. I have never used C.A.R.T., so I am a little nervous about that. But we are here this morning for a memorial for our crew member, Rachelle Swafford. Her love of the Crew is filling this room. As well as her understanding and her appreciation of the importance of what the Crew does. The fact that we reaped strength and Encouragement. Her love is in testimony by the presence of her family here today.

You know, we have many new Crew members here. It's marvelous to see this group! We become quickly attached in this group, for those of you who are new, because when you start any relationship, you start conversation by common ground. You find what you have in common and you begin conversation, and you become truthful with one another. That deepens your relationship.

We can never say to any member of this family, Deb, Ray, Danielle, or Bryan, that we understand how they feel. No one can ever understand how one individual feels in loss. But if there is one thing that everyone in this room has in common, we understand loss. All kinds of losses. Not just life, but abilities, socialization, possessions, friends. So we in this room have a lot in common.

There's a question that's asked many times: Is your glass half empty or half full?

Facial Nerve Damage

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Based on my knowledge and experience as someone with NF2 who has dealt with facial paralysis after the facial nerve issues during brain surgery, doesn't show any signs of healing or movement till about 4 to 6 months after the damage occurs, where everyone is different it could be longer or shorter then that but a good gauge on about what to expect and the majority of the healing that will occur will be in the first year. A few things can be a factor in how much heals.

  • Physical Therapy, Exercise
  • Acupuncture
  • Food, Suppliments and Medication
  • Facial Animation Surgery

The facial nerve feeds smaller nerves and muscles that go to different parts of the face. When the nerve is damaged those smaller veins are not sent enough blood for the circulation which is necessary for muscles to move.

A good amount of facial paralysis can heal between physical therapy and acupuncture. In physical therapy they show you face exercises to regain movement again, I suggest chewing gum a lot as part of that and starting acupuncture as circulation starts back up again. Acupuncture helps to encourage blood to flow back to the different nerves in the face to encourage movement. Starting both within a few months after a nerve is damaged and for that entire first year is important in determining how much it will be able to help.

Some amount of nerve damage can heal after the first year, but the majority of the healing will happen in the first year. I believe food and medication choices could play a part in the percentage of healing as well. Antioxidants help encourage blood flow by helping to send more oxygen to veins while some medications that are meant to slow down cell growth could also be a factor against healing. So in effect, some chemotherapy options, supplements or foods even that might slow down cell growth in my opinion should be held off for as long as possible after surgery to give yourself enough time to heal, but you need to do what's right for you.

Facial animation is typically not a consideration till sometime after the nerve is damaged based on how much your nerves heal on their own. Talk to your doctors.

- Lori Davila
October 14, 2010

UdiDuo System

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Product Review - 7-12-10

I recently had an opportunity to try out the UdiDuo System, made available by the interpreter services at NYU. I highly recommend anyone with hearing issues to try out one of these devices to determine how it might be useful to you.

- Lori Davila


This neat system is a great assistance aid for one on one communications for anyone with hearing issues including :

  • individuals who are new deaf and do not know any other form of communication.
  • a hearing person needs to communicate with someone who is deaf and does not know ASL (American Sign Language), or is too difficult to speech read.
  • individuals who are learning ASL. This would work well as a good instructional tool to type a word and then sign it and have added dialogue by typing as needed.
  • if you need to have a discussion with someone who does not know ASL or someone who cannot sign very well.
  • if you need to have a conversation with someone that includes to many technical words that would require the major part of the conversation too be mostly finger spelling if ASL were used.
  • doctor's visits where a hearing impaired person needs to understand exactly what a medical professional is saying, word for word.
  • a discussion with someone with speech problems.

UdiDuo Description

Two connected computers, each facing opposite directions. As the person you are communicating with types you can read it on the screen as well as see them and in turn type back a response that will show up on their display. No internet access needed. This device would not only be good for doctor's visits but in communicating with others with hearing problems or speech problems who you might need to talk to.

ASL or lip reading alone will not help in every situation and sometimes you might need more than either in cases like a doctor's visit, or even a work environment, where you need to understand exactly what someone is saying, which is where devices like this can help.

Link -

Neurofibromatosis Type 2 (NF2)

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Neurofibromatosis Type II (NF2), is also known by the name "MISME Syndrome" (Multiple Inherited Schwannomas, Meningiomas and Ependymomas), or Bilateral Acoustic NF (BAN), is a genetic Autosomal Dominant condition. It is an Autosomal Dominant, genetic condition that affects an individual throughout the course of their life. The missing gene that results in NF2, the tumor suppressor gene, should create a protein known as MERLIN (Moesin-Ezrin-Radixin-Like Protein), also referred to as Schwannomin or Bilateral Acoustic NF (BAN). When the Merlin Protein is missing, tumor development occurs.

NF2 results in slow growing typically benign (noncancerous) tumors, primarily in the Central Nerve System; these are nerves in the brain and alone the spinal cord. These tumors result in different forms of nerve damage depending on actual location of each tumor that grows. Despite development of earlier issues that might develop, signs of hearing loss are usually the typical point of NF2 diagnosis for many individuals. Additionally, while Central Nerve System tumors can damage the different nerves for vision, NF2 commonly also results in eye issues unrelated to tumor nerve damage.

NF2 - NYU Doctors and Resources

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NYU is the only hospital in the metropolitan area offering a complete team of doctors experienced with and focused on NF2. It is one of the very few such places in the country. For that reason, our group members tend to favor NYU doctors.

However, there are some excellent doctors unaffiliated with NYU who deal with various aspects of NF2.

Dr. Roland - 2010 Wholeness of Life Award

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Dr. Roland to Receive 2010 Wholeness of Life Award at Ceremony on October 28

J. Thomas Roland Jr., MD, is this year's recipient of the Wholeness of Life Award from HealthCare Chaplaincy, a nonprofit organization that specializes in multifaith, spiritually centered healthcare. Every year, HealthCare Chaplaincy, in coordination with the Department of Pastoral Care, honors a select number of healthcare professionals in metropolitan New York who embody the chaplaincy's commitment to care for the whole person, encompassing spirit, body, and mind. The honorees have all earned a reputation among their colleagues for caring holistically for patients and co-workers by showing respect for the dignity of people, demonstrating a commitment to excellence and caring, and exhibiting compassion and understanding of the spiritual needs of individuals regardless of cultural and religious differences.

Dr. Roland, who is the Mendik Foundation Associate Professor of Otolaryngology, chair of the Department of Otolaryngology, and associate professor of neurosurgery, is a pioneer and expert in cochlear implants. In addition to serving as the co-director of our Cochlear Implant Center, he has also brought his expertise and services to those in need in Uganda-performing surgery and training others to perform various types of ear surgeries.

He was nominated for this award by several colleagues, including Maria Corbo, the former director of international and corporate services, John Golfinos, MD, chair of the Department of Neurosurgery, and Susan Waltzman, PhD, professor of otolaryngology and co-director of the Cochlear Implant Center, with support from an international patient.

What Is NF2?

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Neurofibromatosis Type II (NF2) is a genetic neurological disorder that causes benign tumors to grow within the central nervous system and the peripheral nervous system. NF2 is characterized by bilateral vestibular schwannomas (acoustic neuromas). The majority of NF2 patients (approximately 90%) develop bilateral vestibular schwannomas.

Observation (Watch and Wait)

Patients who are asymptomatic may not need treatment immediately. Patients should undergo periodic MRI scans so that doctors can monitor the growth of the tumors. Doctors will determine how often a patient will need to undergo an MRI. Doctors will advise patients as to when treatment will be necessary as well as which types of treatment would be appropriate for a particular case.

Types of tumors which commonly develop in NF-2 patients:

  • Schwannomas
  • Meningiomas
  • Ependymomas

What causes NF2?

NF2 Medical Choices

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Surgery for Tumor Removal

Three common surgical approaches are used to remove acoustic neuromas: Middle fossa approach, Retrosigmoid approach and Translabyrinthine approach. Several factors determine which approach the surgeons will use for a particular patient.

Gamma Knife Surgery

Also known as Stereotactic Radiosurgery.

Hearing Implants

CI (Cochlear Implant): In some cases, a patients auditory nerve will still be intact after an acoustic neuroma is removed and the nerve may be functioning well enough for a patient to benefit from a CI.

ABI (Auditory Brainstem Implant): The majority of NF2 patients use an ABI. In many cases during surgery to remove acoustic neuromas, the auditory nerve is severed or not functioning well enough for a patient to benefit from a cochlear implant.

Medication to Stop or Shrink Tumors

A few medications are in trials that we have hope will stop this condition. Progress is being made. Speak to your doctor.

Antiangiogenic agents for nonmalignant brain tumors

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Research Highlight: During treatment (range 4 to 21 months, mean 9.1) with antiangiogenic agents, two patients with an atypical meningioma and radiation necrosis had dramatic partial response, the six NF2 patients had stable or slightly improved disease, and two meningioma patients had disease progression.

CDMRP Neurofibromatosis Research Program for Fiscal Year 2014 (FY14)

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The FY14 Defense Appropriations Act provides $15 million (M) to the Department of Defense Neurofibromatosis Research Program (NFRP) to support innovative, high-impact neurofibromatosis research. This program is administered by the US Army Medical Research and Materiel Command (USAMRMC) through the Office of Congressionally Directed Medical Research Programs (CDMRP).

Imbalanced hearing is more than a mild disability

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Researchers at Washington University School of Medicine in St. Louis have received a five-year, $3 million grant from the National Institutes of Health (NIH) to study the effects of asymmetric hearing loss in adults and children. New studies indicate that people with asymmetric hearing experience greater communication difficulties than previously assumed.

Surgeons perform first auditory brainstem implant operation in Northeast Ohio

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Surgeons at University Hospitals Case Medical Center have completed the first auditory brainstem implant (ABI) operation in Northeast Ohio on a woman who has lost most of her hearing due to benign tumors on her auditory nerves. The patient has a relatively rare genetic condition known as Neurofibromatosis Type 2 (NF2). The incidence is estimated to be one in 40,000.

On Data Sharing, Pharmaceutical Companies Finally Open Up

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Over the past few years, the pharmaceutical industry has been embroiled in controversy over access to clinical trial data. At issue is the ability for researchers to independently verify study results and, consequently, improve patient treatments that can lead to better health and lower costs. In response, a few drug makers have recently proposed differing plans for providing access, although the extent to which their efforts will assuage concerns remains to be seen.

Chemoprevention for NF2: just over the horizon?

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In the current issue of Neuro-Oncology, Dr Giovannini and colleagues report the effect of rapamycin on NF2-deficient schwannoma cell lines in vitro and in vivo. The data presented in the study provide further evidence that rapamycin can increase the time-to-progression of schwannomas in mouse models of NF2.

New Guidance System Could Improve Minimally Invasive Surgery

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Johns Hopkins researchers have devised a computerized process that could make minimally invasive surgery more accurate and streamlined using equipment already common in the operating room. In a report published recently in the journal Physics in Medicine and Biology, the researchers say initial testing of the algorithm shows that their image-based guidance system is potentially superior to conventional tracking systems that have been the mainstay of surgical navigation over the last decade.

Scientists regenerate immune organ in mice

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British scientists have for the first time used regenerative medicine to fully restore an organ in a living animal, a discovery they say may pave the way for similar techniques to be used in humans in future. The University of Edinburgh team rebuilt the thymus - an organ central to the immune system and found in front of the heart - of very old mice by reactivating a natural mechanism that gets shut down with age.

Quick, simple blood test for solid cancers looks feasible

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Researchers from Stanford University School of Medicine have devised an ultra-sensitive method for finding DNA from cancer tumors in the bloodstream. Previous research has already shown circulating tumor DNA holds promise as a biomarker for cancer, but existing methods for detecting it are not sufficiently sensitive and do not cover a diverse range of cancers.

(Abstract) Exon-Skipping Antisense Oligonucleotides to Correct Missplicing in Neurogenetic Diseases

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Around 85% of the germline NF2 mutations are point mutations, among which approximately 25% seem to affect splicing. In the recent work by Castellanos and colleagues, a patient with a deep intronic mutation was identified. This mutation leads to the inclusion of a nonsense pseudoexon of 167nt in the mature mRNA, between exon 13 and exon 14, thus resulting in a truncated Merlin protein. Castellanos and colleagues have been successful in devising a therapeutic strategy for the first time for an NFT 2 case, using a PMO targeting the deep intronic mutation.

Goggles help surgeons ‘see’ tumours

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Currently doctors treating cancer have two main approaches - bombard the tumour with drugs and radiotherapy or cut it out. The second option is very common but not always successful - because it is often also impossible to tell where the tumour ends and healthy tissue begins. But a new goggle technology being developed in the US lets surgeons "see" which cells are cancerous and which are healthy, increasing the chances that they will be able remove all cancer cells in one operation.

Children's Tumor Foundation and Advocure Collaborate to Fund Synodos for NF2

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The Children's Tumor Foundation and Advocure NF2 are proud to announce a collaboration to fund Synodos for NF2. Synodos is a highly integrated, multidisciplinary consortium of scientists from varying backgrounds – from basic science, to translational science, to clinicians – who are working together to develop treatments for NF2 in a highly informed and highly collaborative manner.

Wellston graduate who has NF2 publishes book

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A local author, Randy Pendleton is proud to announce the upcoming release of his first book entitled, “When You Leave This Way”. Despite bilateral deafness and paralysis in his face and right hand, he continues on the alchemy of building a career utilizing his writing skills, with the pursuit of recognition in his eye–for himself and for the entire disabled community.

Abstract: Long-term toxicity of bevacizumab therapy in neurofibromatosis 2 patients

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Research Highlight: Bevacizumab treatment is associated with tumor shrinkage and hearing improvement in about 50 % of neurofibromatosis 2 (NF2) patients with progressive vestibular schwannomas. Hypertension and proteinuria are common side effects of treatment. Here we reviewed the medical records of all NF2 patients treated with compassionate care bevacizumab at our institution.

Abstract: Primary auditory cortical responses to electrical stimulation of the thalamus

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Research Highlight - Cochlear implant electrical stimulation of the auditory system to rehabilitate deafness has been remarkably successful. Its deployment requires both an intact auditory nerve and a suitably patent cochlear lumen. When disease renders prerequisite conditions impassable, such as in neurofibromatosis type II and cochlear obliterans, alternative treatment targets are considered. In this study we explored another possible implant target: the auditory thalamus.

Between Worlds: An investigation of the complex effects of acquired hearing loss

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CYHU team member Fred Suter has completed his investigative dissertation for university where he looks at the effects of acquired hearing loss. For this he sent a Questionnaire to mostly NF2 affected individuals who have lost their hearing and asked them how this influenced them in terms of attitudes, linguistic challenges, psychological and identity issues and lastly how they cope.

Clinical Trial: Study of Axitinib in Patients With Neurofibromatosis Type 2 and Progressive Vestibular Schwannomas

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This research study will test whether Axitinib may shrink tumors commonly found in patients with NF2 or stop them from growing. This will help us to decide if Axitinib should be used to treat NF2 patients in the future. Axitinib is a drug that has been used to treat various forms of cancer. It has not been studied for the treatment of tumors in NF2 patients. We have selected Axitinib for this clinical trial in patients with NF2 and NF2-related tumors because a very similar drug, bevacizumab, can shrink VS in some NF2 patients.

Scientists slow brain tumor growth in mice

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Much like using dimmer switches to brighten or darken rooms, biochemists have identified a protein that can be used to slow down or speed up the growth of brain tumors in mice. The results of the preclinical study led by Eric J. Wagner, Ph.D., and Ann-Bin Shyu, Ph.D., of The University of Texas Health Science Center at Houston (UTHealth) and Wei Li, Ph.D., of Baylor College of Medicine appear in the Advance Online Publication of the journal Nature.

Possible new plan of attack for opening and closing the blood-brain barrier

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The blood-brain barrier helps maintain the delicate environment that allows the human brain to thrive. There's just one problem: The barrier is so discerning, it won't let medicines pass through. Researchers haven't been able to coax it to open up because they don't know enough about how the barrier forms or functions. Now, a team from Harvard Medical School has identified a gene in mice, Mfsd2a, that may beresponsible for limiting the barrier's permeability—and the molecule it produces, Mfsd2a, works in a way few researchers expected.