Broadwater Farm charity gospel concert raises money for sickle cell

October 16, 2010


BLACK History Month celebrations will hit the right note for charity with the annual Broadwater Farm Family Gospel Festival this Saturday.

Organised by unstoppable community campaigner May Richards MBE, the festival is marking its ten-year anniversary in its campaign to raise money for children diagnosed with sickle cell and thalassaemia.

The 79-year-old has dedicated her life to fundraising to improve the quality of lives of children with the genetic disorders and is on a shortlist for the 2010 Housing Heroes Awards from Inside Housing magazine and the Chartered Institute of Housing (CIH).

Solo artists, choirs and dancers will unite for an evening of spirited and uplifting gospel music — themed Peace, Unity and Love — at the Broadwater Farm Community Centre, in Adam Road, in front of special guests including the high commissioner for Jamaica, the deputy high commissioner for Ghana and Haringey mayor Eddie Griffith.

It is being backed by Homes for Haringey, who manages the borough’s housing stock, Haringey Council and the Broadwater Farm Ecumenical Group.

Paul Dennehy, head of tenancy management (south) for Homes for Haringey, said: “May has a strong love for children and an even stronger desire to help people, young and old.

“She has raised thousands of pounds for the Haringey Sickle Cell and Thalassemia Project over the years. Visitors travel from far afield to enjoy this festival of uplifting entertainment and performances.”

Genetics project launched to cut infant deaths

October 12, 2010


A three-year genetics project has been launched in Birmingham to help tackle the city’s high infant mortality rate by raising awareness of inherited genetic disorders. The project has three strands: educational, clinical and primary care.

The primary care strand of the project, which was launched this week, aims to raise the profile of inherited genetic disorders through the public’s engagement with GPs. Three GP practices in the Heart of Birmingham Teaching Primary Care Trust are offering a screening programme for inherited blood disorders, such as sickle cell anaemia and thalassemia. They are raising awareness of other genetic disorders and are identifying families appropriate for specialist referral. The clinical strand of the project includes developing 30 new molecular tests for genetic diseases over the next three years. ‘We wanted to launch in primary care to raise the profile of this area among GPs and Primary Care’, said project manager Yasar Eltaf, from the Birmingham Women’s hospital.

The project’s focus is on genetic risk generally, but first-cousin marriage is a risk factor for inherited genetic disorders. Birmingham’s infant death rates were linked to first-cousin marriage by a Channel 4 Dispatches programme aired in August this year. A community educator from the Enhanced Genetic Services Project, Zahira Maqsood, emphasised: ‘This project is not about chastising families and community groups for their marriage and cultural choices. It is about enabling people to be aware of potential health risks and choices available to them’.

Infant death rates in Birmingham are 8.2 per 1000 population, almost double the national average of 4.8 per 1000 population. About 139 infants die each year in the city.


Exploring Sickle cell disease

September 7, 2010


Did you know that millions of people world-wide suffer from sickle cell disease—an incurable inherited blood disorder that affects red blood cells? Did you know that millions more carry the sickle cell trait (an inherited condition in which both haemoglobin A and S are produced in the red blood cells) but that many are unaware of it? Did you know that when both parents have the trait there is a 25 per cent chance that they will have a baby with sickle cell disease with each pregnancy? Or that if one parent has sickle cell anaemia and the other has the sickle cell trait, there is a 50 per cent chance of having a baby with either sickle cell disease or the sickle cell trait?

Did you also know that if one parent has sickle cell disease and the other doesn’t, all of the children will have sickle cell traits?
These alarming statistics underscore the need for more education and public awareness about this serious health issue. What you don’t know can kill you!

Mark, (not real name) was born with sickle cell disease. His three siblings were not. Coping with the illness, especially during childhood, has been no easy task. Noting that he would often become bedridden and crippled with severe joint pains, he says, “There were things as a child that I couldn’t do. I couldn’t be active for long periods because I got shortness of breath.” Although the joint pains have lessened, Mark, 42, now struggles with swollen ankles and skin ulcers because of poor circulation. His advice to others? Get tested for the sickle cell trait!

“People are ignorant and think that it can’t run in their family. People hooking up with people who have the trait and having kids, and these kids coming out with the disease.” Noting that the disease has deterred him from starting a family of his own, he says, “I know what I went through and I don’t want to put any child through that.”

Get tested
Local medical doctor, Imran Aziz, says sickle cell disease usually does not appear in an individual until three to six months of age.
Due to improved treatment and care, he says affected persons are now living into their 40’s, or 50’s, or longer. “Long ago it was difficult to find patients living past 25, but now it’s a common trend to see people living longer with the disease.” Aziz says while the Ministry of Health is doing its part to educate the public about the disease, individuals should be more proactive in educating themselves and getting tested for the trait. “It’s extremely important to know,” he stresses.

Daley Hope
Meanwhile, Tyrish Ali, who believes that the majority of the population remains “ignorant” about the disease, has taken up the mantle of spreading the word. Twenty-two-year-old Ali hopes to soon establish Daley Hope—a non-profit organisation dedicated to her late mother, Dale Minguel, who died last year of complications related to sickle cell disease. She was 47. “Recently I found out that two young people died of the disease and it brought back painful memories of my own mother’s death,” she says. “I encourage people to get tested for sickle cell trait and I encourage everyone with sickle cell anaemia to seek and continue getting treatment.”

More info:
People with sickle cell disease have red blood cells that contain mostly haemoglobin S– an abnormal type of haemoglobin. (Normal red blood cells contain haemoglobin A. Haemoglobin S and haemoglobin C are abnormal types of haemoglobin.) Sometimes these red blood cells become sickle-shaped (crescent shaped) and have difficulty passing through small blood vessels. When sickle-shaped cells block small blood vessels, less blood reaches that part of the body, resulting in damaged tissue. Sickle cells are destroyed rapidly in the body, causing anaemia, jaundice, the formation of gallstones, damage to the spleen, kidneys and liver.

The most common types of sickle cell disease are: Sickle Cell Anaemia (SS), Sickle-Haemoglobin C Disease (SC), Sickle Beta-Plus Thalassemia and Sickle Beta-Zero Thalassemia. There’s currently no universal cure for sickle cell disease, which is most common among people whose ancestors come from Africa; Mediterranean countries ; the Arabian Peninsula; India; Spanish-speaking regions in South America, Central America, and parts of the Caribbean. Persons born with only one sickle cell gene carry sickle cell trait. People with the trait are generally healthy.

Work on genetic diseases centre to begin next month

August 22, 2010
Courtesy by:
Work on a new genetic diseases centre is to begin next month, health officials announced yesterday.
Once completed, the centre will treat patients suffering from sickle cell anaemia and thalassemia, as well as other genetic diseases.

During a meeting yesterday, chaired by Undersecretary at the Ministry of Health Dr. Abdulhai Al Awadhi, officials discussed the medial services currently provided to sickle cell anaemia patients and the requirements for the new centre.

Al Awadhi noted that a special room in the SMC’s Accident and Emergency Unit as well as two full wards within the hospital, have been allocated solely to treating sickle cell anaemia patients.

He added that the hospital is completely transparent in its operations and allows members of the Bahrain Society for Sickle Cell Disease Patients Care to visit these wards.

During the meeting, the heads of several SMC departments warned of a lack of medical staff and increasing pressure on nurses and doctors as a result of larger numbers of  patients seeking treatment at the SMC.

Al Awadhi revealed that around 1,000 patients seek treatment at the SMC’s Accident and Emergency Unit every day and this has led to a waiting list for patients as the unit is not equipped to handle such a large number of patients.

The Health Ministry has launched several initiatives to help curb the incidence of genetic diseases amongst Bahraini citizens. One such initiative has been the introduction of mandatory pre-marital screening for all Bahraini couples planning to get married.

Jackson researchers find single-gene culprit for blood diseases

August 15, 2010


Bar Harbor, Maine — Jackson Laboratory Professor Luanne Peters, Ph.D., and colleagues discovered that the mouse mutant Nan, a model for severe inherited anemia, carries a single-gene mutation, but one that selectively interferes with a cascade of events critical to normal red blood cell formation.

The discovery could point the way to future treatments for beta thalassemia, sickle cell disease or other blood disorders, and appears to represent a previously unknown mechanism of inherited disease.

Peters explains that the anemic Nan is one of dozens of mouse models of blood disease that she and her laboratory have studied over the past two decades. Mary Lyon of MHC Harwell in England had published a description of the mutation in the old Mouse Newsletter in 1983, and Peters asked Lyon to send her the mouse for analysis in 1994.

Years ago the Peters lab mapped the Nan mutation and found a single amino-acid change in one of the so-called zinc fingers of EKLF, erythroid Krüppel-like factor, which orchestrates genes that control development of blood cells. Zinc fingers are protein components that turn genes on and off. Like hands reading Braille, they search out specific DNA sequences, then bind to the DNA and insert the correct “on-off” control proteins into the target site.

“It was a pretty conservative change,” Peters says. “Glutamic acid to aspartic acid, E to D, not something by itself that you’d get wildly excited about.” Even her collaborator Dr. James Bieker of New York’s Mount Sinai School of Medicine, one of the world’s leading experts in EKLF, was “underwhelmed” with this information, she notes. “So frankly, for a while we didn’t believe it was EKLF and we kept looking for a different gene.” Adding to the mystery: Knockout mouse models lacking EKLF have a different phenotype than the Nan mouse.

The breakthrough came when Peters and her Mount Sinai collaborators conducted a simple gel-shift experiment, which showed that the Nan version of EKLF failed to bind DNA normally. Notably, this failure was selective, depending on the DNA binding site.

EKLF has three zinc fingers, each of which binds to a specific base triplet in its DNA binding site. The Nanmutation is in zinc finger 2. If the DNA binding site contains a C base, the mutant Nan EKLF binds the DNA and transactivates the gene normally. If on the other hand that triplet contains a T, “it won’t work, and all is not well,” Peters says. “A subset of erythroid genes is not expressed properly.” It was the first demonstration of a sequence-selective transcription factor defect like this, and it distinguished the Nanallele of EKLF from the null allele in the knockout models.

“It was one of those voila moments,” Peters says.

In the Nan mice, embryonic globins, which are normally down-regulated, or suppressed, after birth, are highly expressed. EKLF is a major regulator of the switch to adult globin expression. “This suggests the possibility of a drug intervention that tinkers with EKLF in order to reactivate embryonic globins in patients with beta thalassemia or sickle cell disease.”

The research findings are published in the Proceedings of the National Academy of Sciences.

The Jackson Laboratory is an independent, nonprofit biomedical research institution based in Bar Harbor, Maine, with a facility in Sacramento, Calif. Its mission is to discover the genetic basis for preventing, treating and curing human diseases, and to enable research and education for the global biomedical community.

UAE Genetic Diseases Association carries on initiative for UAE free from thalassemia by 2012

July 30, 2010


UAE Genetic Diseases Association (UAEGDA), the sole non-profit genetic organization in the UAE, recently announced that they are on track to achieve their “UAE Free from Thalassemia 2012” initiative, saying that the target looks quite achievable to eliminate births of children born with the genetic blood disease within the next two years.

Offering free and confidential testing and in association with National Bonds Corporation PJSC, the organisation held a blood screening drive earlier this week for its employees to screen them for the most commonly inherited blood genetic disorders—including as Beta Thalassemia, sickle cell anaemia, G6PD deficiency and Diabetes Mellitus—in support of UAEGDA’s national health campaign.

Regularly organized screening drives help to increase an individual’s awareness on the health risks posed by genetic blood disorders, which can be passed from one generation to the other. The process begins by registering online at the UAEGDA website. Bar-coded labels are then printed and placed on the individuals testing tubes after which the sample of blood is processed in the UAEGDA laboratory. The results are then sent directly to the individual’s email with all the details being handled solely between the client and the organization.

Dr. Maryam Matar, Founder & Chairman of UAEGDA, says that genetic blood diseases like thalassemia are highly prevalent in the UAE but can be addressed with a simple and inexpensive blood test as a primary solution in helping to reduce the presence of hereditary diseases in the country.

“We are confident that with the rapid increase in the activities of our organization and with all the awareness events organized by UAEGDA across the country, we can make the UAE free of thalassemia by 2012,” adds Dr. Matar.

As one of UAEGDA’s leading partners, National Bonds Corporation PJSC takes responsibility towards its employees seriously and is working in association with UAEGDA to support the government’s campaign to eradicate thalassemia in the country by 2012.

“We are committed to stepping up the fight against thalassemia and working towards the health of the nation, both in terms of physical and financial wellbeing,” comments Mr. Mohammed Qasim Al Ali, CEO of National Bonds Corporation PJSC.

“By offering our employees UAEGDA’s free and confidential voluntary tests, we can ensure their own wellbeing as well as that of future generations.”

The UAE Genetic Diseases Association has been able to considerably reduce the impact of common genetic disorders prevalent in the country through its community outreach programs, health education, counseling and free screening tests. They also have a free genetic clinic equipped with a state-of-the-art screening facility supervised by internationally renowned experts.

HemaQuest Pharmaceuticals Raises Additional $4M to Bring Total to $16M in Series B Financing

July 30, 2010


HemaQuest Pharmaceuticals, a clinical stage biotechnology company developing small molecule therapeutics for sickle cell disease, beta thalassemia and EBV-related cancers, announced today the closing of an additional $4M to its Series B financing by new investor, Latterell Venture Partners. This investment brings the total Series B financing to $16M. The financing is intended to help advance HemaQuest’s two lead products, HQK-1001 and HQK-1004, through Phase 2b clinical trials. Latterell Venture Partners joins the HemaQuest investor syndicate which includes Aberdare Ventures, De Novo Ventures, Forward Ventures and Lilly Ventures. In conjunction with the financing, James Woody, MD, PhD, General Partner at Latterell Venture Partners, has joined HemaQuest’s Board of Directors.

“HemaQuest is focusing on much needed clinical therapies for serious and life threatening orphan diseases. As a clinician who has cared for such patients, it is clear the unmet need is large and there is a significant need for novel new medications,” said Dr. Woody. “The company, with excellent leadership and considerable skill in the hematology and oncology space, has made great progress with the two lead compounds, with promising results in early clinical trials. We look forward to working closely with our colleagues at HemaQuest to advance these important drugs into registration trials, and eventually to patients.”

Fred Dotzler, Managing Director of De Novo Ventures and HemaQuest’s Chairman of the Board, said, “The investment by Latterell Venture Partners provides further validation to the Company’s technologies and progress in developing programs for its two lead products. We are delighted to have the very talented Jim Woody join the Board of Directors.”

HemaQuest Pharmaceuticals ( is a Seattle-based biopharmaceutical company focused on developing small molecule therapeutics based on its proprietary short chain fatty acid technologies to treat orphan hematologic diseases. HQK-1001 is an orally administered small molecule therapeutic being developed to treat the two most common hemoglobin disorders, sickle cell disease and beta thalassemia. The drug candidate has advanced through Phase 1 clinical trials and is completing testing in proof of concept clinical studies in patients with sickle cell disease and beta thalassemia. HQK-1004 is a unique therapy designed to treat malignancies associated with Epstein-Barr virus. A Phase 2 clinical trial is being initiated with this drug candidate.

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